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Archive for the ‘Genetic Testing’ Category

Genetic Testing at Dana-Farber Cancer Institute – Dana …

Genetic Testing Q&AQ: What are genes?

A: Genes are individual units of inheritance made of DNA. We all have two copies of each gene; we inherit one copy from each of our parents and pass one copy on to each child. The exact DNA sequence of a gene is a code with instructions to make a functioning protein (like a recipe). Changes to the DNA code can cause the gene not to work and stop its protein from being made.

A: Genetic testing is a process that looks for alterations in a person's genes. Alterations in certain genes may lead to an increased risk of cancer. Therefore, genetic testing results may be helpful in tailoring cancer screening recommendations.

Genetic testing involves sending a blood sample to a specialized lab for analysis. Results are returned to the ordering physician and genetic counselor, who then discloses them to the patient and arranges appropriate follow-up care.

A: Genetic counselors are trained licensed professionals who have earned a Master's degree in genetic counseling from an accredited program. Cancer genetic counselors specifically counsel patients about inherited cancer syndromes, the chance they might carry a gene in a form that confers increased risk of specific inherited cancer syndromes, the mechanics of genetic testing, the patient's chance of having an inherited susceptibility to cancer, and the implications of being found to carry or not carry a genetic risk for cancer.

The role of a genetic counselor is to assist individuals and families in understanding genetic disorders. Genetic counselors:

Genetic counselors often help to interpret confusing or uncertain test results, and also educate patients and providers on new testing options. For this reason, genetic counselors may maintain contact with patients over time.

A: During the visit, your genetic counselor will take a detailed family history in order to evaluate the likelihood that you could have an inherited predisposition to cancer. Features of a family history that suggest a hereditary susceptibility include:

The genetic counselor may then discuss the option of testing and will explain the relevant gene(s) and associated syndrome in terms of cancer risks and medical management issues. Common concerns of genetic testing, including issues of insurance discrimination and confidentiality, will be discussed. Possible results of genetic testing, as well as the cost and logistics of testing, insurance coverage, or options if insurance does not cover, will also be reviewed. Your genetic counselor will help to guide you in making the best decisions regarding genetic testing for yourself, as a decision to undergo genetic testing or not is truly a personal decision.

A: Information regarding personal and family cancer history including the specific cancer(s), age(s) at diagnosis or information about pre-cancerous conditions such as colon polyps and copies of personal or family genetic test results are requested for your visit. Other medical records such as pathology reports, surgical reports, or summary notes) are often useful. Also helpful are prior pathology reports.

A: We recommend general guidelines for a healthy lifestyle as endorsed by the American Cancer Society and the National Cancer Institute, as these may also help reduce your risk for developing cancer.

In the videos below, Dana-Farber cancer genetics specialists provide answers to a variety of questions about specific genetic tests, interpreting test results, and genetic risk for cancer.

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So Much Genetic Testing. So Few People to Explain It to You

When Dan Riconda graduated with a masters degree in genetic counseling from Sarah Lawrence College in 1988, the Human Genome Project was in its very first year, DNA evidence was just beginning to enter the courts, and genetic health tests werent yet on the market. He found one of the few jobs doing fetal diagnostics for rare diseases, which often meant helping young families through the worst time in their lives.

What a difference 30 years makes. Today, with precision medicine going mainstream and an explosion of apps piping genetic insights to your phone from just a few teaspoons of spit, millions of Americans are having their DNA decoded every year. That deluge of data means that genetic counselorsthe specialized medical professionals trained to help patients interpret genetic test resultsare in higher demand than ever. With two to three job openings for every new genetic counseling graduate, the profession is facing a national workforce shortage.

Thats where folks like Riconda come in. He was recruited by Baylor College of Medicine to lead the schools first class of genetic counseling students. Baylor runs one of 11 new accredited programs in North America (10 in the US and one in Canada) that have launched in the last three years, increasing the total number of training programs on the continent by a third. There are at least a dozen more in various stages of development.

Theres been a surge in the number of new programs in a relatively short period of time, says Riconda. This year, there were 406 slots available for new applicants to genetic counseling programs, up from 378 the year before. It reflects the greater opportunities available today that didnt exist when I first entered the field.

In the clinic, genetic testing has expanded from its origins in prenatal and reproductive health to cardiac and cancer care. Dozens of treatments now work by targeting specific tumor mutations. But the opportunities outside the clinic are growing even faster.

Pharmaceutical and lab testing firms are routinely hiring genetic counselors to make sure new screening technologies for these targeted drugs are developed in an ethical way. According to a 2018 survey conducted by the National Society for Genetic Counselors, a quarter of the workforce now works in one of these non-patient-facing jobs. A smaller study, published in August, found that one-third of genetic counselors had changed jobs in the past two years, nearly all of them from a hospital setting to a laboratory one.

One place that isnt welcoming new counselors is consumer testing companies like 23andMe. I would love students to have more opportunities in the consumer-driven space," says Ashley Mills, the program director at the Keck Graduate Institute in Claremont, California, which welcomed its first genetic counseling class earlier this fall. The unfortunate thing is you really dont have any genetic counselors working there for students to shadow. Earlier this year, 23andMes CEO, Anne Wojcicki, penned an opinion piece in Stat titled Consumers Dont Need Experts to Interpret 23andMe Genetic Risk Reports. A free-the-data evangelist, Wojcicki argued that people should be empowered to make their own decisions with their DNA, without a trained intermediary.

The federal government seems to agree. In 2017 the US Food and Drug Administration allowed 23andMe to release disease risk reports to customers for 10 health conditions. In March of this year the company got the green light to add breast cancer to its list. More approvals for 23andMe and its competitors are likely to follow soon.

Genetic counselors are already feeling the strain. In southern California there are a number of genetic counselors with private practices who are mostly seeing patients bringing them 23andMe results, says Mills. Since 2007, more than five million people have had their DNA tested with 23andMe; in the last year the spit kits have become a bestseller on Amazon. To teach students about working with this kind of data, Mills has invited those private practice counselors to host workshops on the topic. Helping worried customers navigate their results is, after all, very different from the way genetic counseling has worked for decades, with doctors referring patients to counselors before testing, to guide the process.

But with the shortfall in genetic counselors, there also arent enough professionals to train the up-and-comers. Most programs can only accept 8 to 12 new students per year, because accrediting standards require each student to handle a certain number of clinical cases. Yet there are only so many supervisors to go around, says Amanda Bergner, president of the Accreditation Council for Genetic Counseling.

Counselors have also left the clinic for higher-paying jobs in other branches of the healthcare industry. Genetic counselors make less than other medical professionals with similar trainingaveraging $77,500 per year, according to the Bureau of Labor Statistics. That shrinking pool of clinic-based workers ends up limiting the number of new counselors who can be trained to take their place.

Which is one reason why Sheila ONeal, the executive director for the American Board of Genetic Counseling, isnt sure all the new programs will be enough to provide adequate patient care in the coming decade. The other is the sheer speed with which new genetic tests are reaching the market, about 10 every day by one recent analysis in Health Affairs. Weve outstripped the estimates on the supply side, says ONeal. Whether or not we actually meet demand is hard to say; its a moving target. There might be more ways to decode your DNA than ever before, but interpretation is still a scarce commodity.

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So Much Genetic Testing. So Few People to Explain It to You

Genetic testing company FamilyTreeDNA is sharing customers …

A prominent consumer DNA-testing company has decided to share data with federal law enforcement, giving investigators access to genetic information linked to hundreds of millions of people.

FamilyTreeDNA, an early pioneer of the rapidly growing market for consumer genetic testing, confirmed late Thursday that it has granted the Federal Bureau of Investigation access to its vast trove of nearly 2 million genetic profiles. The arrangement was first reported by BuzzFeed News.

Concerns about unfettered access to genetic information gathered by testing companies have swelled since April, when police used a genealogy website to ensnare a suspect in the decades-old case of the Golden State Killer. But that site, GEDmatch, was open-source, meaning police were able to upload crime-scene DNA data to the site without permission. The latest arrangement marks the first time a commercial testing company has voluntarily given law enforcement access to user data.

The move is of concern to more than just privacy-minded FamilyTreeDNA customers. One person sharing genetic information also exposes those to whom they are closely related. That's how police caught the alleged Golden State Killer. A study last year estimated that only 2 percent of the population needs to have done a DNA test for virtually everyone's genetic information to be represented in that data.

FamilyTreeDNA's cooperation with the FBI more than doubles the amount of genetic data law enforcement already had access to through GEDmatch. On a case-by-case basis, the company has agreed to test DNA samples for the FBI and upload profiles to its database, allowing law enforcement to see familial matches to crime-scene samples. FamilyTreeDNA said law enforcement may not freely browse genetic data but rather has access only to the same information any user might.

The genealogy community expressed dismay. Last summer, FamilyTree DNA was among a list of consumer genetic testing companies that agreed to a suite of voluntary privacy guidelines, but as of Friday morning, it had been crossed off the list.

"The deal between FamilyTreeDNA and the FBI is deeply flawed," said John Verdi, vice president of policy at the Future of Privacy Forum, which maintains the list. "It's out of line with industry best practices, it's out of line with what leaders in the space do and it's out of line with consumer expectations."

Some in the field have begun arguing that a universal, government-controlled database may be better for privacy than allowing law enforcement to gain access to consumer information.

FamilyTree DNA said its lab has received "less than 10 samples" from the FBI. It also said it has worked with state and city police agencies in addition to the FBI to resolve cold cases.

"The genealogy community, their privacy and confidentiality has always been our top priority," the company said in an email response to questions.

Consumer DNA testing has become big business. Ancestry.com and 23andMe Inc. alone have sold more than 15 million DNA kits. Concerns about an industry commitment to privacy could hamper the industry's rapid growth.

Since the arrest of the suspected Golden State Killer, more than a dozen other suspects have been apprehended using GEDmatch. By doubling the amount of data law enforcement have access to, those numbers are sure to surge.

"The real risk is not exposure of info but that an innocent person could be swept up in a criminal investigation because his or her cousin has taken a DNA test,'' said Debbie Kennett, a British genealogist and author. "On the other hand, the more people in the databases and the closer the matches, the less chance there is that people will make mistakes.''

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DNA testing kit company has been handing over genetic data to …

At-home DNA testing kits were once little more than a fun distraction that might reveal something about your family history that had been long forgotten. These days, however, the battle over who has access to your genetic testing results is hotter than ever, and a new report alleges that one of the largest private DNA testing companies has been aiding the FBI for months.

First reported by BuzzFeed News, Family Tree DNA admitted that its been working investigators to test DNA samples and potentially match them with suspects or their relatives. Needless to say, this isnt sitting well with privacy advocates.

Its no secret that authorities are actively using publicly available DNA databases to solve crimes, some of which have long gone cold. However, in past cases the genetic information was obtained from publicly available archives where individuals uploaded their data knowingly.

In this case, Family Tree DNA presents itself as a private genealogy database where customers can have their DNA results compared to countless others in the search for lost relatives and to help fill out their family tree. Their work with the FBI had not been disclosed to any of their customers, and over a million DNA records are already accessible via the family matching feature.

Despite the very obvious privacy concerns this raises, the company seemed comfortable and perhaps even boastful regarding its relationship with law enforcement, releasing an official statement claiming that their agreement to work with the FBI would help law enforcement agencies solve violent crimes faster than ever.

That bold stance is doing little to calm the growing dissent among its customer base, which is just now learning that DNA results from months or even years ago have been available for matching with FBI-provided samples since last fall.

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Tribal Enrollment and Genetic Testing | Genetics

By Jessica Bardill (Cherokee), PhD

When the NCAI Policy Research Center began developing this resource guide, tribal leaders asked many questions such as, What is genetic testing? What are good sources of information about genetic testing? What kinds of DNA testing can we use for tribal enrollment? How do we respond to individuals claiming tribal membership based on DNA tests? This paper was developed to provide tribal leaders with more information on genetic testing related to tribal enrollment. Tribes are sovereign nations and so will decide their own views on genetic testing. This paper provides information to assist in those decisions.

Genetic information (i.e., DNA) collected from individuals, families, and communities can be used in many different ways and it is becoming more of a discussion topic in tribal communities. While research is one possible use of genetic information, this information can also be used to examine how people are related to one another by comparing the similarity of their DNA sequences. Genetic information can also provide clues to ancestral relations. DNA is obtained by collecting biological samples (e. g., blood, hair, cells from a cheek swab, or even from spitting in a cup). Genetic testing has been advertised to tribes as a tool for determining their enrollment (TallBear 2003). Historically, tribal nations have used a variety of ways to determine their own membership. More background information on tribal determination of enrollment is available in the section entitled Tribal Sovereignty and Enrollment Determinations. This section discusses the use of genetic information in determinations of tribal enrollment. For a quick overview of relevant issues, please see this summary handout.

Types of DNA Testing and Considerations about their Use

What do people mean by DNA testing?

DNA testing has become an umbrella term that refers to many different kinds of genetic testing that provides information about an individuals genes. Genetic information, or DNA, is found in nearly every cell in the human body. DNA testing technology is constantly changing, and so are the efforts to engage tribes in testing on an individual and group basis. One type of DNA testing called DNA fingerprinting can be used to help document close biological relationships, such as those between parents and children, as well as among other close family members. Other kinds of testing for genetic ancestry use markers to see how similar an individual is to a broader population or group, based on probabilities drawn from databases of research on populations and group genetic characteristics. However, no DNA testing can prove an individual is American Indian and/or Alaska Native, or has ancestry from a specific tribe. Genetic testing can provide evidence for the biological relationship between two individuals (e.g., paternity testing), but there are no unique genes for individual tribes or American Indian/Alaska Native (AI/AN) ancestry in general. While research scientists have found that some genetic markers are found mostly only in AI/ANs, these markers are neither unique to AI/ANs nor predictive of AI/AN identity. This section will discuss various types of DNA testing as well as considerations for tribal leaders and members when engaging with testing companies.

Probability

In almost all genetic testing, information is expressed in terms of probability or a chance of something. For example, genetic testing can estimate the chance of two individuals being related, or sometimes the probability of developing a certain disease[1]. Commonly this probability or chance is expressed as a percentage of how likely something is (99.5% for example). For parentage of a child, genetic testing can provide a very accurate probability estimate. In trying to determine whether a child is related to others (grandparents, siblings, cousins, aunts and uncles), the probability estimate will be less accurate due to a smaller amount of shared genetic material among distant relatives. However, with genetic testing of distant relatives, probability estimates can become more accurate with a greater number of tested individuals. Generally, genetic testing of possible relationships with previous generations (e.g., parents, grandparents) is more reliable than genetic testing with extended relatives in a persons own generation or later generations (e.g., cousins).

Types of Genetic Testing

Paternity and Maternity Testing These tests compare a childs genes to those of a probable parent to confirm or deny their relation. The results are expressed as a probability, a mathematical likelihood of the relation between the possible parent and child. Much of this testing is done through DNA fingerprinting or DNA profiling, which compares specific genetic markers between the two reference samples, known as Variable Number Tandem Repeats (VNTRs), because these markers remain extremely similar from parent to child. This kind of comparative analysis is also used in forensics for building a case against a certain suspect, based on genetic evidence (blood, hair, etc.) left at the scene of the crime. DNA fingerprinting could also be a test for determining likelihood of other extended or immediate familial relations, which might prove useful for those tribes utilizing lineal descent rules for membership and wanting to substantiate them through DNA.

This example from PBS demonstrates how to see similarities in DNA fingerprinting results between family members. Importantly, the PBS example points out that this type of test for paternity can definitively determine who is not the father, and can identify with a slightly less than 100% confidence who is the father. Tribal enrollment officials might find these tests useful to help determine relationships between probable parents and children that are applying for enrollment. If a parent is not available for testing, a grandparent could be tested; however, the certainty of this kind of test is less than that of parental testing because of generational distance. The more distant a familial relationship is, the less certain the DNA fingerprinting results will be.

Genetic Ancestry Testing This kind of testing looks at many genes from an individual and compares their sample to a larger database of research information. This test is based on probabilities and can provide information about how different or similar an individuals DNA is to that of most people within a larger group of people (population). However, these results are limited by the information in current databases, many of which do not contain a lot of information for particular groups (AI/ANs among them). This limitation in the data can produce problems for tribes and individuals seeking information as results may not be accurate or even possible to generate given limited availability of comparative data.

There are many ways to test for genetic ancestry, such as mitochondrial DNA testing (mtDNA), Y-chromosome testing, and analysis of single nucleotide polymorphisms (SNPs). The discussion below explains why these methods are of limited use in tribal enrollment issues.

Mitochondrial DNA (mtDNA):Inside each cell are two structures that contain DNA: the nucleus and hundreds of mitochondria. The mitochondria only come from the mother, as the egg contains the mitochondria that will produce all other mitochondria in the childs cells. The DNA of the mitochondria is identical or extremely similar for the whole of the maternal line. Thus, a genetic test that analyzes mtDNA could provide information about an individual and his/her biological mother as well as other maternal, female relatives in direct lineage, but since this test cannot account for any of the other ancestry of an individual, enrollment officials will only find it of limited use.

Y-Chromosome DNA:Males have a Y-chromosome that comes from their father. The DNA of this chromosome contains sections that remain identical or extremely similar for the whole of the paternal line. A genetic test that analyzes a males Y-chromosomeDNA could thus provide information about that males biological father and direct paternal, male relatives. However, this test is of limited utility for enrollment officials because it is only applicable for males and it does not account for any of the other ancestry of an individual.

Single Nucleotide Polymorphisms (SNPs):DNA is made up of nucleotides, and these building blocks vary between people and groups. Variations in the building blocks are called single nucleotide polymorphisms (SNPs). Specific variations, or SNPs, can be common in a group, but they are also seen in individual genomes. These small changes help to provide an overall profile of an individuals genotype, which is their whole genetic makeup. This kind of genetic test uses statistical probability to estimate how likely it is that an individual comes from a certain region of the world. However, this kind of test cannot conclusively prove that an individual is from a certain tribe. In fact, there are no genetic tests that are specific to a tribe or even American Indian/Alaska Native heritage. Therefore, while individuals may approach tribal enrollment officials with genetic ancestry test results, other records would be of more value and provide more certainty in determining eligibility for enrollment.

One type of genetic testing called Ancestry Informative Markers (AIMs)uses SNPs to examine a persons genetic ancestry. AIMs convey important information about an individuals likely ancestry and differences between populations from different geographic areas. Research in recent years has attempted to link genes with specific ancestry related to geographical locations. For example, Mark Shriver and his lab group have identified genetic variations that are most common in particular populations, and he suggests these can be used to help determine the geographic ancestry of modern people, small groups, and individual persons. Shriver and colleagues write, Ancestry informative markers (AIMs) are genetic loci showing alleles with large frequency differences between populations. AIMs can be used to estimate biogeographical ancestry at the level of the population, subgroup (e.g. cases and controls) and individual (Mark Shriver et al 2003).

As research generates more information, some genetic markers, such as SNPs, appear more commonly in some populations than others. However, these genetic markers do not reflect all of the genetic information in a persons ancestry. With genetic ancestry testing, there are limits to the information available for AI/AN individuals because there are few samples from the AI/AN population in the current databases being used for these tests. Further, these tests do not provide information about all of a persons ancestors. Kim TallBear describes this limitation well in her articles, including an explanation of how a person with AI/AN ancestry may not show up on a genetic test as AI/AN, or may be told they are of East Asian or other descent (TallBear 2003, TallBear and Bolnick 2004). Brett Shelton and Jonathan Marks have also described the limits of DNA testing with respect to Native identity. There is also some concern, highlighted by Marks and Shelton, that both false positives and false negatives occur in these tests. In other words, genetic ancestry testing using AIMs is not totally accurate or precise. With this testing, an individual can be misidentified as AI/AN even if they do not have the genetic markers that are more common among AI/AN peoples. On the other hand, an individual could be misidentified as non-AI/AN even if they do have the genetic markers found more often in AI/AN groups. For this reason, genetic ancestry testing can be viewed as just one piece of a larger puzzle about an individuals ancestry. Other tools should be used to fill in the information throughout the puzzle, or the enrollment application. Kenneth Weiss and Jeffrey Long highlight that not many documented single nucleotide polymorphisms (SNPs) are useful [ancestry informative markers].For example, an AIM intended to reveal Native American ancestry may also be common in East Asians, and not private after all. These authors conclude that Although DNA data have the aura of providing definitive answers to population and individual ancestry questions, they require careful interpretation in terms of both the laws of inheritance and the evolutionary process. Untrained individuals, and even some professionals, will have a difficult time reconciling the nuances of interpretation with the bottom-line aura that DNA carries (Weiss and Long 2009). Thus, scholars have argued that genetic ancestry tests should be interpreted with caution, especially because there is currently not enough data from AI/AN populations to make specific claims to ancestry based on genetic testing.

Considerations Regarding DNA Testing Companies

Tribes that have decided to use DNA testing will face decisions about how to get this testing completed in an ethical and respectful way. Tribes might choose to use genetic testing to provide information about tribal members family relationships or ancestry. This type of genetic testing is usually done by private, commercial genetic testing laboratories. The section below discusses considerations for tribes in working with these private labs. Other sections of this resource guide discuss the collection of genetic information for research, which is different from fee-for-service genetic testing done by private companies. However, because the information encoded in genetic samples and the information attached to those samples (such as family and tribal identities) has potential commercial value, tribes should make certain that samples and identifying information of individuals, their families, and tribes is handled according to tribal preferences. To ensure that tribal preferences in these areas are honored, there should be protective language contained in contracts with DNA testing companies allowed to work with tribal members, as well as clearly defined consequences for failure to observe those contract requirements. Some terms tribes may wish to include in contracts are protections of confidentiality with the samples and predetermined services or monies owed to the tribe if the contract is breached.

Working with Private Labs for Testing In using genetic tests, most tribes will work with private labs for their testing. As with all data collected from tribal citizens, it is important to ensure the protection of the citizens, applicants, and samples submitted to the labs. Written contracts and proper informed consent should be in place to document how specimens and test results will be used. Tribes may wish to work directly with genetic testing labs so that they can ensure the quality of test results provided to individuals who are applying for tribal enrollment, and the security of the information. Moreinformation about lab quality assurance is available on the Genetics Home Resource, particularly under the section How can consumers be sure a genetic test is valid and useful? This resource includes information about certification of labs according to Clinical Laboratory Improvement Amendments. Testing centers may also provide information on their own websites about choosing a lab. For additional considerations in choosing a lab, please see this summary handout.

Direct to Consumer (DTC) Testing Many companies will perform testing of a persons DNA profile or genetic ancestry for a fee. The information that these companies provide has a limit to accuracy (in how much of ones ancestry it can reflect). It also needs to be interpreted by professionals, such as doctors for health information, or scientists who can understand the implications and limitations of information about genetic ancestry. Claims by genetic testing companies should be evaluated by the consumer for accuracy. Tribal officials, tribal members, and potential members would benefit from carefully examining any companys claims before getting testing or using that testing for enrollment. For example, the American Society for Human Genetics issued a statement about ancestry testing companies in 2008. Knowing which company provides what information, and what that information can and cannot do for a consumer (whether tribe or individual), is important.

Issues and Considerations in Using DNA Testing for Tribal Enrollment

Recent advances in DNA testing have brought with them possibilities for using DNA testing as criteria for tribal enrollment. Many people have found the prospect that these DNA tests can provide a concrete yes or no answer about biological relationships (parentage and descent) to be an attractive and positive aspect of using these tests. However, using DNA testing may limit the understanding of tribal identity to only a biological understanding if it is not supplemented with other tools or methods of determining tribal identity (or enrollment eligibility). Further, there are concerns that DNA testing within families and communities could reveal information about parents and lineage that contradicts other claims or family stories. More specifically each kind of testing offers particular positive aspects and some challenges above and beyond these basics.

Parental Testing This kind of testing determines the parentage of a given child.Positive Aspects: Can prove biological parentage. Confirms or denies the biological connection between two sampled individuals.Challenges:Restricts definition of family to biological relationships, versus a more expansive understanding of kinship.

DNA Fingerprinting This kind of testing looks at larger relationships in a family or community, not only direct parental lineage.Positive Aspects: Can prove larger family connections, including parentage and some other types of relatedness.Confirms or denies the biological connection between two sampled individuals.Challenges: Could reveal information about familial connections previously unknown or contradict family histories.Ignores and potentially contradicts some tribal concepts of family that are not biologically based.

Genetic Ancestry Testing This kind of testing looks at more historical connections; however, it cannot reflect the whole of a persons ancestry but instead traces ancestry through specific variations in genes.Positive Aspects: Mitochondrial DNA testing proves maternal connections, and can prove clan as traced through the mother. Y-chromosome testing proves paternal connection, and can prove clan as traced through the father for a son.AIMs can be very specific to a geographical area, and their use may enable tribes to organize in new ways.Confirms or denies biological connection to a population or historical sample.Challenges: Mitochondrial DNA testing restricts information to maternity of a particular child, and to the female line of descent.Y-chromosome testing restricts information to the father-son relationship, and to the male line of descent.Biologically determined but not definitely culturally specific. Only as accurate as the comparison samples and research in a database (for AIM testing). Could produce evidence that undermines homeland or historical descent claims.Ignores and potentially contradicts other tribal conceptualization of relationships.Can be used to undermine tribal ancestral stories.

The use of DNA testing for tribal enrollment raises many issues. Tribal enrollment criteria each represent a different value or set of values that the community holds. Over time, as the community changes so too might the membership criteria or the value that they represent. For example, lineal descendancy demonstrates a value of proven biological relation to a particular historical census record of tribal members. DNA testing may provide another tool to uphold such a value, but it has limits and is not the only tool that may be useful. When considering tribal membership requirements and whether DNA testing should become one, tribal leaders and community members might consider the values of the current criteria, the added (or not) value of DNA testing, the potential challenges associated with using a particular kind of DNA test, and particularly how it compares to other DNA testing. While genetic tests cannot determine whether an individual is AI/AN or not, they can determine whether people are likely related to one another. This limitation means that genetic testing will not be helpful in many enrollment cases, but it can be helpful for some areas with less documentation of family relationships or the need to confirm direct biological relationships.

Case Studies: How Tribes Are Currently Using DNA Testing

Case Study A: Using DNA testing to inform new tribal enrollment decisions

The Mashpee Wampanoag and the Eastern Band of Cherokee Indians have used DNA testing to prove or disprove both maternity and paternity claims by potential tribal enrollees. While the Mashpee have been using the testing for a decade as one piece of information obtained in their application for enrollment, the EBCI turned to this method of corroborating birth records and supporting applications for tribal enrollment after an audit of the rolls by the Falmouth Institute indicated that many documents, such as birth certificates, were missing from files of enrolled citizens.

The audit report from the Falmouth Institute is provided for information about the status of the EBCIs enrollment records immediately prior to the change in criteria. Also, links to newspaper articles about how community members reacted to the use of DNA are included below for additional information.

Morris and Giles Cherokee Enrollment Quandary leads to talk of DNA testing

Morris and Giles, Tribe moves to implement DNA for new applicants to Cherokee rolls

These two tribal enrollment ordinances and the newspaper reporting on one of them may help in considering the following questions:

Case Study B: DNA Testing for Disenrollment: DNA testing has been used not only as a criterion for tribal enrollment, but also for disenrollment. When DNA testing is used on the current citizenry, the testing may contradict family relationships described in original enrollment applications. However, this discrepancy may not even be known by the citizen in question because they may have been raised to believe certain information about their parentage and family. For example, in an article published in Indian Country Today, Kevin Taylor presents the stories of individuals disenrolled from tribal citizenship as a result of DNA testing. He also discusses how other individuals are using DNA testing to make a case for their enrollment applications to tribal nations. The article demonstrates that there are still many complications within a choice to use DNA testing for any aspect of tribal enrollment, and not all groups will agree on how or if they want to use this technology. Taylors article may help in considering the following questions:

Case Study C: Federal Recognition of Tribes: In 2000, legislation was introduced in the Vermont legislature in an attempt to secure federal recognition for the Western Mohegan tribe after they paid for DNA testing[2] to prove their genetic similarity to a federally recognized tribe in Wisconsin. The Western Mohegan tribe used these genetic test results to argue for the historical existence of their tribe as part of their application for federal recognition. These efforts indicate a hope for DNA to do what has previously been unsuccessful by certain tribal groups: to prove their community identity. However, the wording of the legislation would have caused other Vermont tribes to require DNA testing, and the legislator who introduced the bill spoke of American Indians as a biologically and racially determined group instead of sovereign nations. Kim TallBears article (2003, pg. 85-86) describes these events in more detail. TallBears article helps in considering the following questions:

In sum, identity is a sensitive issue for many American Indian peoples and nations. The ability to determine the political and legal identity of citizens/members remains within the realm of tribal sovereignty. How enrollment is determined through certain criteria is specific to each and every tribal nation. These differences mean that while DNA testing may be useful for some tribes, it may not be useful to others. Further, what works now may not be the same as what is needed or wanted in future generations, just as past generations adapted enrollment practices over time with different technologies, methods, and documents. The sections above have reviewed the use of DNA testing as a potential tribal enrollment criterion. The questions offered are intended to help tribal leaders and community members consider how DNA testing might be used in their own community contexts, should they decide to do so.

[1]In some cases, a genetic test can conclusively say that if an individual has a specific gene(s) , they will develop a disease (e.g., Huntingtons Disease). Other genetic tests can indicate if an individual is more likely to develop a chronic disease (e.g., diabetes or heart disease).

[2] Specifically, this tribe used a form of DNA testing not previously discussed that looks at genes of the immune system and compares these between individuals. This type of testing is most commonly used for organ transplantation. The tests discussed in this paper, and more often available and marketed to tribes, are more comprehensive types of DNA testing.

Photo Credit:NativeStock PicturesUsed with permission. All rights reserved.

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Tribal Enrollment and Genetic Testing | Genetics

Best DNA Testing Kits 2019 – Genetic Testing for Ancestry …

How Much Do DNA Testing Kits Cost?Most ancestry DNA kits cost about $100. AncestryDNA, 23andMes Ancestry test and National Geographics Geno 2.0 test all fall nicely into that price point. If youre looking for a bargain, we recommend waiting to buy until your preferred test is on sale, as theyre often available well below their usual price. To get the most for your money, buy an Ancestry or 23andMe kit on sale then upload your Raw data to MyHeritage DNAs database, which is free.

How Accurate Are DNA Ancestry Tests?Our testers took multiple DNA ancestry tests, and the services returned slightly different results for each person. This doesnt necessarily mean that any one company is more accurate than another. Every DNA testing service uses its own algorithm and data set different reference populations drawn from different databases. Nacho Esteban of 24Genetics told us, Ancestry is not an exact science. The top five companies in the world would show very similar results when talking about continents; the similarity is smaller when talking about countries. In regional ancestry, some border regions are difficult to identify and sometimes there may be discrepancies. So we cannot take the information as something 100% sure. But at the end, it gives a great picture of where our ancestors were from.

In our tests, we did find consistency across our results on the continental level. For example, my ancestry is exclusively East Asian, but 23andMe breaks it down into 80 percent Korean, 10.5 percent Japanese and 0.8 percent Chinese, with the remaining 8.7 percent in broader categories. However, Ancestry reports my DNA as 98 percent Korean and Northern Chinese, with only 2 percent Japanese. National Geographic places 85 percent of my ancestry from Northeastern Asia and 14 percent from the South China Sea region, with my DNA most closely matching the Korean and Japanese reference populations.

Database Size & Reference PopulationsWhen asked about how database size affects ancestry results, David Nicholson, co-founder of Living DNA, told us, The tests absolutely rely on the reference database. If you have Polish ancestry but there are no people in the database who are Polish, then what the test will do is show what the next closest group is next to Polish, like German or Eastern European ancestry. Each ancestry DNA service has its own sample database and reference panel made of the DNA samples collected from their users and information collected from sources like the 1000 Genomes Project. The database consists of all this information collectively. A reference panel is made of certain curated samples with known family history and roots in a specific place. The services use insights gleaned from the reference panel to give you geographical ancestry results. In theory, a larger database leads to more information available to create a good reference panel, which then leads to better results for customers.

In testing, we found that many tests have much more specific and detailed results for European ancestry than anywhere else. This is due more to the diversity of the database than size. For example, AncestryDNA has the largest database with over 10 million samples yet results for Asian ancestry are markedly less specific than results from several companies with much smaller databases, including 23andMe and Living DNA. Instead of pulling reference samples directly from the existing database, however, many companies seek out high quality data with special research projects. 23andMe, for example, offers its Global Genetics project, which sends free kits to people with all four grandparents born in certain countries that are underrepresented in the database.

Should I Buy a DNA Test?

Direct-to-consumer DNA tests are still relatively new. The first ancestral DNA test launched in 2001 by FamilyTreeDNA, but companies didnt start genotyping autosomal DNA until 2007. Still, tests and results have come a long way since then, with much lower prices and streamlined sample collection, registration and results. If youre still on the fence about whether or not to buy a DNA ancestry test for yourself or as a gift, here are a few things to consider.

Why You Should Test Your DNA

DNA tests offer a wealth of insights into your connections to family, history and geographical locations. They both entertain and encourage you to dig into what you know about yourself. The tests make great gifts to bring you closer to your family and involve you and your family in the development of a cutting-edge science at the same time. Beyond that, the information is extremely useful for adoptees, people looking for lost relatives, genealogists and for medical science.

Many DNA databases, including Ancestry, 23andMe and MyHeritage DNA, have family search features, which match your DNA with that of potential relatives. These features help users searching for family, including adoptees and children conceived through sperm donations. Almost every DNA testing service we interviewed for this article had a story ready about how its service facilitated a heartwarming family reunion. Like these from Ancestry, this one from MyHeritage andthis one from 23andMe. Because many DNA services also have resources like family tree builders, the tests work in tandem with genealogical research.

For better ancestry and medical insights, you should encourage family members, especially parents and grandparents, to take a DNA test as well. If your family is from a specific geographical location for generations, your samples could potentially improve the service's reference panel, in turn improving results for everyone. If youre female and take a test from 23andMe or LivingDNA, you can view paternal haplogroup information, and you get more information when one of your male family members takes a test as well.

Why You Shouldnt Test Your DNA

There are several examples of people finding out a little more than they wanted because of results from a direct-to-consumer DNA test. There are Facebook communities full of people who found out they have different parents. Theres little you can do to prepare for that shock, though most services with family matching features do include warnings about unexpected discoveries in their terms of service. You can also opt to not receive family matches if youre simply looking for medical or geographical ancestry information.

Another reason you may want to avoid taking a DNA test is if youve committed a crime or you know someone closely related to you has committed a crime. Law enforcement has recently taken to testing DNA evidence from crime scenes through open DNA databases like GEDmatch after successfully solving several cold cases after the arrest of the Golden State Killer in April 2018. There are several open DNA databases floating around the internet, where people upload their raw DNA data after taking another test like 23andMe or Ancestry. Most companies do not release database information to law enforcement, however, a recent study estimates that up to 60% of Americans with European heritage can be identified via third-cousin-or-closer DNA using publicly available data.

DNA Traits

In addition to showing geographic ancestry percentages, some direct-to-consumer DNA tests also include insights about physical traits like hair and eye color. With 23andMe, this trait information is mostly available in the upgraded Ancestry + Health kit, but some interesting tidbits can be found in the Your DNA Family report, which is available if you opt to participate in the DNA Relatives service. This report tells you interesting information, such as that your DNA relatives are 32 percent more likely to own a cat or 11 percent less likely to have lived near a farm when they were young. DNA Passport by Humancode offers information about more than 20 physical traits, from appearance to grip strength. Ancestry DNA recently added its AncestryDNA Traits upgrade for $10, and it lets customers who have already taken one of its tests unlock information about 18 genetically influenced traits, including bitter taste perception, freckles and cilantro aversion.

Most of this trait data tells you things you already know, like your hair and eye color, but it is fun to see them compared to your genetic relatives and the world at large. We also found it fascinating to learn more about how these physical traits are genetically determined. For example, finger length ratio is determined by hormonal exposure in the womb, with higher testosterone exposure resulting in a better chance of having a longer ring finger. 23andMes Health report for finger length ratio looks at 15 gene markers to estimate your likelihood of having longer ring fingers or index fingers.

Types of DNA

Of the 23 pairs of chromosomes in the human genome, 22 are autosomes. Most direct-to-consumer DNA tests look primarily at your autosomal DNA to determine your geographic ancestry percentages. This DNA is a mix of inherited DNA segmentshalf from each parent. Because everyone inherits at least one X chromosome from their mother, DNA tests often include the X chromosome in autosomal testing, though the X chromosome is not an autosome.

The 23rd pair of chromosomes is comprised of sex chromosomes X and Y chromosomes that determine whether youre male (XY) or female (XX). Traits like red-green color blindness, male pattern baldness and hemophilia are specifically linked to X or Y chromosomes and are called sex-linked characteristics. All of those examples, and most other sex-linked traits, are X-linked and more common in males, who only have one X chromosome. Many DNA tests isolate Y DNA in males to show consumers their paternal haplogroup. Since the Y chromosome is directly inherited from father to son, it is possible to trace direct paternal lineage for many generations.

Similarly, mitochondrial DNA, or mtDNA, is used by direct-to-consumer DNA tests to trace your direct maternal lineage and determine maternal haplogroups. While most DNA lives in your cells' nuclei, mtDNA lives in the mitochondria. Mitochondria are the cells' powerhouses their 37 genes are necessary for cellular energy production and respiration. Previous research suggested that mtDNA is inherited directly from your mother, but a recent study found that biparental mtDNA may be more common. This discovery may affect maternal haplogroup testing in DNA tests in the future, but for now, its safe to assume your results are correct.

Genotyping vs. Sequencing

Most of the services we tested use genotyping to read your DNA. Genotyping looks for specific markers in your genetic code. For something like ancestry testing, genotyping is effective because it identifies known variants in your DNA. Scientifically speaking, genotypings weakness is that it can only recognize previously identified markers. This is one reason DNA tests accuracy relies so heavily on the DNA database size; there must be enough information available and identified genetic variants in the database to recognize new customers markers.

A few of the DNA tests we tested, including the National Geographic Geno 2.0, use genetic sequencing instead of genotyping. Sequencing is newer in the mainstream direct-to-consumer DNA testing market, as it used to cost more and take much longer to sequence a persons DNA. Sequencing identifies the exact makeup of a certain piece of DNA be it a short segment or the whole genome. The Helix tests sequence the Exome, which are the parts of the genome responsible for protein production, plus several other regions of interest. DNA sequencing gives more information overall and has more uses in medical testing than genotyping. In the future, more DNA kits may move from genotyping to DNA sequencing as the technology gets cheaper and faster, but for now both are effective ways to look into your geographic ancestry.

DNA Testing Your Pet

Beyond ancestry tests, there are at-home DNA kits available for everything from vitamin regimens to dating sites. There are even DNA test kits for your furry friends. Companies like Embark, Wisdom Panel and many others offer genetic health risk screenings, trait analyses and breed percentage information for dogs. These canine ancestry tests allow you to confidently state that your mutt is part Irish wolf hound and give you key information about your pets heritage for insights into potential health issues. For example, if you found out one of your rescue dogs parents was likely a purebred boxer, you could speak with your vet about breed-specific needs. Or if you find out your cute new puppy of indeterminate origin is mostly Bernese mountain dog, you can expect it to grow very large.

Like direct-to-consumer DNA tests for humans, these dog kits require a DNA sample, usually a cheek swab. They also fall in a similar price range, from $60 up to $200 for services with health information in addition to breed identification. Because there are so many canine DNA tests to choose from, we recommend shopping based on the companys sample database and the number of breeds the company tests for.

If youre looking for genetic information about your feline friend, there are fewer options, though Basepaws DNA CatKit promises information about your cats breed and traits with just a hair sample. It also offers swab kits for hairless cats. The company is fairly new and claims that results take up to four months, though most are delivered within eight to 12 weeks. The kit costs $95 and also tells you how closely related your kitty is to wild cats like lions, tigers and (bears, oh my!) ocelots.

DNA Testing for Children

Since genome sequencing is still a relatively young science, we don't recommend submitting your childs DNA to direct-to-consumer companies. We do encourage consulting with your doctor about genetic testing for your child. Due to some concerns with the DNA testing industry, the choice to have ones genes sequenced by a private company should be made with informed consent. Those concerns are magnified when applied to children, who cannot make their own decisions regarding the unlikely potential risks or privacy concerns.

Once your genetic information is out there, its difficult to undo. Also, once you know something about yourself, its impossible to un-know. Revelations such as having different parents than you expected or finding unknown half-siblings are difficult to process at any age, but its particularly troubling for kids. However, you can always simply opt out of family matching features.

Similarly, on the health side, finding out your child has a gene connected to cancer or another disease can induce unnecessary anxiety, especially since a genetic predisposition to a certain disease does not always guarantee a diagnosis.

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Best DNA Testing Kits 2019 - Genetic Testing for Ancestry ...

Invitae Genetics is rolling out personal genetic testing …

If the future of healthcare is in your DNA, there's a war brewing over how to harness the information it contains without causing harm to patients.

Today, there are two main ways to take a peak at your genes: either by getting a costly but complete genetic workup through a doctor, or by opting for a more affordable at-home test like those sold by 23andMe.

Clinicians and advocates criticize the at-home approach, which they say prioritizes convenience over privacy and long-term health. But entrepreneurs counter that the at-home approach lets more people access information.

A true hybrid approach something that combines the benefits of comprehensive testing with the convenience of at-home tests while still keeping your data safe and private has yet to have a sizeable impact.

Read more: Genetic testing is the future of healthcare, but many experts say companies like 23andMe are doing more harm than good

That's where San Francisco-based genetic information company Invitae hopes to make a splash.

The company will soon let patients order a personal genetic test online through a genetic counselor or physician, Invitae CEO Sean George said last week at the J.P. Morgan Healthcare Conference. The company's tests are currently only available from a clinician who orders the test on a patient's behalf.

"We now in 2019 will focus on removing the barriers of access to [genetic] information and providing support for that individual every step of the way," George said during a presentation last week.

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Invitae has sequenced the genes of roughly half a million patients. Hollis Johnson/Business Insider Since its first test launched five years ago, Invitae has sequenced the genes of more than half a million patients. The company focused on diagnostic genetic testing for patients with conditions like cancer, heart disease, and rare disorders, as well as infertility and pregnancy. It catered to physicians and genetic counselors who would order the tests on behalf of their patients.

But as genetic information becomes increasingly important in healthcare, the Invitae team has begun to work on making its tests more accessible to more people.

Patients will be able to order genetic tests online through a clinician by this summer, George said. Nearly any test on Invitae's clinical menu will be available this way, making Invitae one of the first companies to offer wider access to clinical testing for an array of conditions and inherited health risks.

Unlike at-home genetic tests, Invitae's tests are clinical grade and will not require patients to follow-up their results with confirmation testing, a company spokesperson told Business Insider.

23andMe, perhaps the most widely-recognized name in genetic testing, sells its $199 'Health and Ancestry' kits in pharmacies or online without any input from a clinician. Because they're offered without a clinician's input, however, 23andMe's tests are not considered clinical grade. As a result, both the company and federal regulators instruct customers to confirm any health findings with a separate clinical-grade test.

Importantly, Invitae requires a physician or genetic counselor to be involved in all of its testing. Their role is to help translate complex genetic results into useful health guidance, Invitae CEO Sean George said.

Say you received a result that said you were at a high risk of an arrhythmia, or an irregular heartbeat. The genetic variants for this condition can be very difficult to interpret alone. While one variant could suggest to an expert that you're in immediate need of a pacemaker, another variant might simply require monthly check-ins with a physician. But only an expert can reliably tell you which variant you have and what to do next.

"It's important to us that they have somebody that can walk them through the results and immediately get them in touch with a specialist," George told Business Insider in November.

Several experts recently echoed George's sentiment, telling Business Insider last week that failing to include a physician or genetic counselor with a genetic test is confusing at best and harmful at worst. That's something George has been thinking about for a long time.

"One of the questions we ask ourselves at Invitae is how we get this information to patients responsibly," George said.

In addition to Invitae, several other companies are also beginning to experiment with new hybrid models for genetic testing. Color Genomics, for example, lets you order a genetic test through an independent physician who can help translate the findings remotely.

And Nebula Genomics says you can get your entire genome sequenced, own the data set, and earn digital money by sharing it.

Another approach is being pioneered by LunaDNA, which is offering to pay people for their genetic information in the form of shares of LunaDNA.

George said that while he hopes Invitae's new initiative will help more people get access to their genetic information earlier, he wants to also ensure that people are able to act on the guidance they receive.

"Our mission is to get it in more people's hands, but we aren't interested in unleashing a whole bunch of information on folks and providing no way to do anything tangible with it," he said.

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Invitae Genetics is rolling out personal genetic testing ...

Genetic Testing Market Share Analysis – Global Industry …

Published Date:May 2018|160Pages|Report ID:GMI2490 | Report Format: PDF

Industry Trends

Genetic Testing Market size was valued at USD 10.6 billion in 2017 and is expected to witness more than 11.6% CAGR from 2018 to 2024.

U.S. Genetic Testing Market, By Test Type, 2013 2024

Increasing demand from patients for personalized medicines will fuel the demand for genetic testing during the forthcoming years. Personalized medicine offers tailored medical treatment to patients based on their molecular basis. Various developed economies such as Europe undergo genetic testing for detection of various genetic and rare diseases. Detection of diseases at an early stage facilitates early treatment and helps reduce severity of diseases. Growing adoption of personalized medicines coupled with increasing awareness regarding early diagnosis of disease will boost the industry growth over the forecast period.

Technological advancement in genetic testing is expected to drive the genetic testing market during the coming years. The demand for genetic testing is increasing across the globe owing to the availability of new tests as well as advancement in the genetic testing techniques. Innovations in tests that offer safer and efficient techniques of disease detection, surpassing the risk of miscarriage during early stages of pregnancy will serve to be a high impact rendering factor that will drive the genetic testing market growth during the forthcoming years.

Dearth of experienced professionals and advanced infrastructure in developing as well as under developed economies is should hamper the market growth over the forecast period. Accessibility to quality healthcare in low resource areas is difficult to maintain owing to lack of infrastructure. Moreover, risk of false interpretations associated with unavailability of experienced professionals will restrain industry growth noticeably.

Genetic Testing Market, By Test Type

Diagnostic testing segment accounted for the highest market share with a revenue share of USD 5690.6 million and is expected to grow at a significant rate over the forecast timeframe owing to its wide applications in various diseases. Detection of diseases at early stage allow patients to undergo therapeutic treatment at an early stage and minimizes the severity of diseases leading to reduced mortality rate. Increasing prevalence of chronic diseases worldwide will augment the segment growth over the forecast period.

Prenatal and newborn testing segment is estimated to witness lucrative growth with a CAGR of 11.6% during the forecast period. Increasing prevalence of chromosomal abnormalities and genetic disorders in the newborns worldwide is one of the leading cause of infant morbidity and mortality. According to Centers for Disease Control and Prevention (CDC), around 3% of all babies born in the U.S. are affected by birth defects leading to infant death. Aforementioned factors will fuel the demand for prenatal and new-born genetic testing during the coming years.

Genetic Testing Market, By Application

Cardiovascular disease diagnosis segment of genetic testing market will grow at the fastest CAGR of nearly12.8% owing to rising prevalence of cardiac diseases across the globe. Genetic testing allows testing for a wide range of cardiovascular diseases (CVDs) encompassing congenital heart malformations. Timely diagnosis of heart disorders helps save lives and reduce the number of CVD deaths. Healthcare systems efforts towards reducing CVD incidences should fuel business growth over the forecast period.

Cancer diagnosis segment dominated the genetic testing market with a revenue of USD 5562.8 million in 2017. According to, The Institute for Health Metrics and Evaluation (IHME), around 8.9 million cancer deaths were recorded in 2016, of which around 5%-10% were caused by inheriting genetic mutation. Rising prevalence of various types of cancer such as prostate cancer, breast cancer and lung cancer coupled with increasing awareness pertaining to early detection of cancer will stimulate the market growth throughout the forecast period.

Genetic Testing Market, By Region

North America dominated the genetic testing market with a revenue of USD 6382.1 million in 2017 and is projected to grow at a significant rate over the forecast period. This is attributable to increasing incidences genetic diseases such as cancer, Turner syndrome, neurofibromatosis, and spinal muscular atrophy. Availability of new tests owing to technological advancements will fuel the demand for genetic testing. Advanced infrastructure coupled with high healthcare expenditure and regulatory support for direct-to-consumer genetic testing will further augment the market growth in the coming years.

Latin America Genetic Testing Market is projected to grow at a robust CAGR of around 13.3% during the forecast period owing to increasing prevalence of various types of cancer such as prostate cancer, breast cancer and lung cancer. Breast cancer is the most common cancer among women in Latin America. According to the Pan American Health Organization (PAHO), around 4,08,200 women were diagnosed with breast cancer and the number is estimated to grow by 46% by 2030. Hence, adoption of genetic testing for early detection and prevention of cancer and other genetic diseases will accelerate the regional growth over the forecast period.

Competitive Market Share

Some of the eminent industry players operating in global genetic testing market are 23andMe, Abbott Molecular, Bayer Diagnostics, Biocartis, BioHelix, BioMerieux, BGI, Celera Genomics, Cepheid, Counsyl, deCODEme, Genentech, Genomictree, Genomic Health, HTG Molecular Diagnostics, IntegraGen, LabCorp Diagnostics, Luminex, MolecularMD, Myriad, Natera, PacBio, Pathway Genomics, Qiagen, Roche Diagnostics, Sequenom and Siemens. Industry players are focusing on strategic expansion through acquisitions, mergers and collaborations help the players to strengthen and enhance the product portfolio. For instance, in December 2017, Roche acquired Ariosa Diagnostics, a molecular diagnostic testing services provider, to enter the non-invasive prenatal test (NIPT) and cell-free DNA testing services market.

Genetic Testing Industry Background

Rising prevalence of diseases such as cancer, cystic fibrosis, Alzheimers and other genetic diseases will drive global genetic testing industry. Increasing adoption of genetic testing for early detection of diseases and identification of genetic mutation prior to its manifestation will further augment industry growth over the forecast period. The industry is expected to witness rapid growth in the future owing to rising physician adoption of genetic testing into clinical care. Availability of regulatory support for direct to consumer (DTC) testing and ongoing advancements in technology enable industry players to maintain their market position.

What Information does this report contain?

Historical data coverage: 2013 to 2017; Growth Projections: 2018 to 2024.

Expert analysis: industry, governing, innovation and technological trends; factors impacting development; drawbacks, SWOT.

6-7 year performance forecasts: major segments covering applications, top products and geographies.

Competitive landscape reporting: market leaders and important players, competencies and capacities of these companies in terms of production as well as sustainability and prospects.

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Genetic Testing Market Share Analysis - Global Industry ...

Consumer Genetic Testing Is Booming: But What are the …

Initially a Niche Market for Very Few with Small Population Impact

The first genetic tests directly available to consumers for health were offered in 1996. The concept, then, was both audacious and bold: the idea that individuals could explore their own human genome without the aid of a health care provider to order the test or interpret the results. Some consumer

The world has changed. In the last two years, personal genomics usage has exploded

advocates praised the development as empowering, while many medical and public health experts advised caution, given the lack of evidence that results were clinically useful and that the risk for potential harms was unknown. Meanwhile, the direct-to-consumer (DTC) genetic health test industry grew relatively slowly during the first two decades of its existence. During that time, personal genomics for any purpose was often perceived as a mere curiosity purchased by only a few wealthy individuals.

The world has changed. As reported in the May 22, 2018 Science News special report, personal genomics usage has exploded from what might have once been considered an unlikely source: mushrooming consumer interest in genealogy. Genealogy has grown dramatically to become the second most popular hobby in the United States and the second-most popular internet surfing topic. In recent years, costs for genetic ancestry tests have dropped dramatically and demand has responded in kind. Generally, the tests focus on identifying genetic variants important to ones cultural and geographic heritage and are not thought to involve health issues though it is conceivable they could raise important questions. For example, if one discovered previously unknown Ashkenazi Jewish ancestry, additional risk for certain genetic conditions might be discussed with ones physician.

Recent sales for DTC genetic health tests increased dramatically when several DTC test providers began bundling their popular DNA genealogy package with their health package. We find DTC tests for health concerningconducted as they often are without the involvement of a healthcare provider and without an understanding of clinical validity and utilityas we have detailed in our blogs: Think Before You Spit, Think (Again) Before You Spit, and Think After You Spit. Despite these valid concerns, bundled ancestry and health packages have been selling like hotcakes. While specific sales data for health related DTC tests are not publicly available, we can easily guess their significance. In late 2017, a bundled genealogy and health DNA test was one of Amazons top five Black Friday sellers. Meanwhile, overall, genetic tests for ancestry have continued to skyrocket. The total number of people who have taken direct to consumer genealogy tests was reported to have increased two fold in 2017 with the total number of people who have participated at greater than 12 million and rising.

Many questions come to mind that require better population level data to answer.

As the number of people who have participated in DTC genetic tests rises into the millions, these questions are becoming increasingly important to answer as a public health priority. What data we do have about consumer knowledge on genetic tests provides further reason for concern. A recent study based on an online survey of 1,001 adults representative of the population, found that public awareness of genomics and personalized medicine was not increasing in line with advancements in the industry. Seventy-three percent of the survey respondents had not heard of genetic counseling which is conducted by certified health professionals to advise consumers/patients on how to interpret genetic test results.

We need to know a lot more. We could better understand these issues by including questions about DTC genetic test awareness, usage, and impact in population-based surveysan approach used successfully in the past. (Examples include those reported by Jacobellis in 2004, Goddard in 2009, Kolor in 2012, and Agurs-Collins in 2015.)

With current and expanded data on use and impact of DTC genetic health tests, we can take steps to empower consumers to make more informed choices about their health behaviors and health resource expenditures. These measures could include providing:

One thing has become clear: DTC genetic tests, including those for health purposes, are now mainstream. Both before and after deciding to purchase, it is essential that the general public understands the potential harms and benefits of applications marketed or interpreted for health relevance. An important role for public health is to provide unbiased evidenced-based information. The CDC Office of Public Health Genomics will continue to provide regularly updated and searchable data on DTC tests in our Public Health Genomics Knowledge Base (PHGKB). Additional information on this topic can be found on our website and our Genomics and Health Weekly Update. In future blog posts, we will further explore the implications of consumer genetic testing on the health of individuals and populations.

As always, we welcome your comments and questions.

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Consumer Genetic Testing Is Booming: But What are the ...

Preimplantation Genetic Diagnosis, PGS Testing, PGD Testing

Genetic Testing

If you or your partner have experience with genetic disorders in your family or simply need the security that comes from utilizing the best resources available, it is important to consider the use of genetic testing during your treatment. Not only does this state-of-the-art technology make IVF safer, as we are reducing the risk of pregnancy loss, but it also reduces the chance (and cost) of multiple cycles since we may ensure transfer of only the healthiest embryos. Genetic tests are performed on embryos to ensure the health of the chromosomes. Normally, there are 24 chromosomes (22 autosomes and an X and a Y chromosome).

The availability of genetic testing also allows our center to highlight the benefits of our less is more philosophy, which focuses on single embryo transfers to reduce the chance of multiple pregnancies. Transferring multiple embryos and resulting multiple pregnancies/births are stressful on the uterine environment, significantly decreasing the chance of a healthy pregnancy and increasing the chance of premature births.

It is common for patients to ask about the difference between PGD and PGS. The difference is significant and yet subtle. The purpose of PGD is to diagnose abnormal embryos to ensure that they are not transferred back into your uterus and improve your chances of having a healthy baby. PGD can only be run if you know that you or your partner are carriers of a genetic disorder. A special probe will be created to test for the specific disorder(s) that a couple is known to have. PGS on the other hand will screen for and identify unknown chromosomal abnormalities. This is better for patients who have a history of miscarriages or failed IVF cycles due to unknown circumstances. Most of our patients undergo PGS or Preimplantation Genetic Screening, but be sure to ask which one is right for you.

Genetic testing is very safe for both you and your embryos. We are not making designer babies, so there are no ethical issues to worry about. Some couples are concerned that the procedure will affect their chances of pregnancy, or more importantly, the health of their embryo. Because the procedure is done so early in the developmental process, at a time when cells from the embryo can potentially be removed, our genetic testing does not cause any harm to the developing embryo. Genetic testing is a vital resource for many couples, especially those with known family histories of genetic defects.

PGD/PGS/NGS can offer genetic screeningfor numerous diseases and disorders classified as either chromosomal disorders, single gene defects, or sex-linked disorders. Specific chromosomes are tested for specific disorders, including (but not limited to):

*PLEASE ASK OUR STAFF WHICH TESTS ARE RECOMMENDED FOR YOU*

New Hope Fertility embryologists can also test for X-linked diseases, which only affect males, (e.g. Hemophilia A, Adrenoleukodystrophy, Hunters disease) by identifying the sex of embryos and transferring only female embryos. We also offer PGD for single gene defects such as Cystic Fibrosis (CF), the common deletion (^F508), Spinal Muscular Atrophy (SMA), and Myotonic Dystrophy (DM).

NHFC also performs aneuploidy screening and chromosome translocations to detect abnormalities that may cause spontaneous abortions in early pregnancy. We can perform PGD for all single gene defects where the specific mutation is identified and as long as we can develop a special genetic probe for the disease.

New Hope Fertility Center of New York City is among the top NYC fertility clinics brings together a team of world-class, best fertility specialists that are committed to bring you the best of tomorrows IVF treatment, today. Our NYC fertility center named the Top Clinic of 2017 and is on top of the Forbes list of fertility centers in US. Dr. Zhang has been named among New Yorks Top Doctors

(Click the links below for more infertility information)

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Preimplantation Genetic Diagnosis, PGS Testing, PGD Testing

Free Review of Ancestry Dna Tests | Genetics Digest

Dear Reader,

This article is about information that most DNA test companies arent expecting you to readDid you know that the market for DNA tests has become fiercely competitive in the last year?In fact, the market has more than doubled in size. More people took a DNA test in 2017 than in ALL previous years combined! 2018 is expected to be another record-shattering year.

Its no surprise that DNA tests are in high demand. The things you learn from them are irresistible:

Ancestry Everything weve ever known about our heritage has come from our parents and grandparents. A DNA test can tell you so much more about who you are and where youre from. Most companies offer this basic service, but some are far better than others.

Family History This kind of goes hand-in-hand with Ancestry. If youre trying to sort out family mysteries, a DNA test can help you solve them. If your parents also have their DNA tested, you can sometimes sort out which genes you received from each side of the family.

Community Finding out your genetic heritage gets you a deeper connection to the places that youre from. On top of this, some of the best DNA test companies will connect you with people who share pieces of DNA with you. Many people use this feature to discover long-lost relatives.

Health Risks Some DNA tests can reveal unique traits embedded in your genetic code that may put you at risk for certain health conditions. This can help you alter your lifestyle to try and prevent them.

Family Planning A DNA test can help you find out what genes you may pass onto your children, for better or worse.

With so many people clamoring to get their hands on the benefits listed above, more and more DNA test companies have been rising to meet them. Unfortunately, theyre not all created equal.

Now its harder than ever to find a good DNA test

Luckily, youre in the right place. Our team of scientists, researchers, and writers at Genetics Digest know the field better than most. Weve examined nearly every DNA test in the booming market. Well help you sort out the great ones from the cheap knockoffs.

With that said, lets get started on Common Mistakes People Make When Shopping for a DNA Test

Mistake #1: Dont buy a brand by how popular it appears to be.

Some brands have a great marketing team with a massive advertising budget. You might see/hear their ads everywhere. Thats because theyre spending millions to make sure youve heard of them.

Despite the great marketing, some of those companies have subpar services at best. Theyre more worried about making a sale than they are with actually delivering a quality product.

To be clear, a popular company with great marketing does NOT necessarily mean that they have a bad service. A couple of them have really great services! But you shouldnt assume that they have a great service just because they appear to be popular, and you also shouldnt write off lesser-known companiessome of these are new up-and-coming services who will eventually rise to the top of the market. They give you a unique opportunity to be along for the ride.

Mistake #2: Dont buy the cheapest OR the most expensive genetic test you can find.

The old mantra You get what you pay for applies here. However, price is a tricky quality to navigate.

On the one hand, you dont want something too cheap. A cheap Ancestry DNA test is most likely not the best dna test and will likely give you very little information. These tests will tell you things you already know about yourself, like which continent your genes came from. Sometimes cheap tests are simply trying to undercut the marketThey may be selling at a loss up front with the hopes that customers will buy more from them later.

On the other hand, you dont want to get ripped off by an over-priced DNA test. Expensive DNA tests may have a great product, but you can often find a product of similar (or even better) quality at a cheaper price.

You have to strike a comfortable middle ground. In our experience, roughly $100 is a fair price for a quality DNA test (give or take a few dollars). Aiming for a test around this amount will help ensure that you get a good product without over-paying.

Mistake #3: Dont confuse Accuracy with Precision.

Almost every DNA test company on the market claims to be the most accurate. Theyre not lying. DNA tests are typically 99.9% accurate. However, theyre often not precise.

Whats the difference between Accuracy and Precision?

For something to be accurate, it just needs to be true. If you have European heritage and your Ancestry DNA test comes back with results that simply say European, then its an accurate test. Its giving you results that are true, even if theyre not detailed.

For something to be precise, it has to be an exact expression of details. The most precise DNA tests currently on the market have at least 20 unique regions they use in their Ancestry reports. The best companies will have multiple regions on each continent in their reports (rather than having most of their tested regions all on the same continent).

However, you have to be wary of companies overselling how precise their tests are. Some companies claim to have hundreds of regions in their reports. In our experience, this is bending the truth a bit. Most of them really test for 20-30 regions, but then list the names of countries that are contained within those regions without actually testing DNA for them.

For example, if a DNA test determines that someone has Iberian Ancestry, one of these companies might list Spain and Portugal underneath and count those as 2 regions for marketing purposes even though they dont give a percentage breakdown for how much Iberian Ancestry is Spanish or Portugese.

In other words, some companies can be a little misleading with their marketing.

Our Top 3 Recommended DNA Tests

Now that weve shown you what to look out for, we want to share with you some of the best Ancestry DNA tests weve seen for discovering your heritage. .

We ranked the services by these 10 factors: 1) Company Reputation 2) Services Offered 3) Testing Method 4) Software Grade 5) Research & Scientific Evidence 6) CLIA Compliance 7) Customer Reviews 8) Price 9) Customer Service 10) Return Policy

Our Top Choice

CRI Genetics stands out as the best DNA Test for Ancestry for a few specific reasons. First, theyre headed by renowned genetic scientist with a reputation for leading exceptional studies in genetic science. While most genetic testing services rely on other peoples past research to produce their ancestry reports, CRI Genetics relies on someone who is currently doing Genome research.

Company Reputation:

CRI Genetics is led by Alexei Fedorov, Ph.D., who was mentored by Nobel Prize winning scientists at Harvard University and has gone on to spearhead many genetic studies of his own. As a company, CRI Genetics has established themselves as one of the top players in quality of service. They are the only DNA testing company we have come across that has any sort of money-back guarantee.

Details/Accuracy of Reports:

CRI Genetics currently offers 5 unique ancestry reports that are generated using a patented DNA analysis algorithm created by Alexei Fedorov. From a basic geographical breakdown of your Ancestry to a detailed history of your maternal or paternal line to an interactive Ancestry Timeline that pinpoints the year that certain heritages entered your family, the overall level of detail across all CRI Genetics reports is unmatched.See Full Report Here

#2 Choice

Company Reputation:Family Tree DNA was founded in the year 2000 by Bennett Greenspan, a businessman who was trying to solve mysteries within his own family history. The first tests offered to customers were very simple compared to todays DNA tests, but were considered advanced at the time.

Details/Accuracy of Reports:Today, Family Tree DNA offers a small range of reports with an above average level of detail. Their biggest strength is a very large database of customers, which helps with accuracy. View Full Report

#3 Choice

Company Reputation:Living DNA is a fairly young company, but have quickly risen in the ranks of DNA Testing companies with a vast network of connections with DNA experts. One thing is clear to us here at Genetics Digest: Living DNA is loved by their customers.

Details/Accuracy of Reports:Living DNAs Ancestry Reports have details for 80+ regions worldwide, but 21 of those regions are in Ireland and the United Kingdom. If you have a lot of British or Irish DNA, then this is definitely an interesting service for you to try. However, if your Ancestry is anything else, Living DNA is on par with most other services. View Full Report

Link:
Free Review of Ancestry Dna Tests | Genetics Digest

OHCA – Genetic Testing

Molecular pathology services, including genetic testing, are rapidly becoming the standard of care in diagnostic medicine and other related areas. OHCA is committed to ongoing evaluation of the clinical evidence supporting the use of these services to ensure that medically necessary tests and technologies are available to our members.

On the OHCA proposed rule changes page, there is a sign up button for Web Alerts. These Web Alerts will send an email notification when there is a new posting for a proposed rule change. With each posting on this page, there is an opportunity to complete an electronic feedback form.

The OHCA seeks advice and consultation from medical professionals, professional and tribal organizations, and the general public in developing new or amended policies and rules. The proposed rule changes page is designed to give all constituents an opportunity to review and make comments regarding upcoming rule changes.

Disclaimer: The OHCA rules found on this Web site are unofficial. The official rules are published by the Oklahoma Secretary of State Office of Administrative Rules as Title 317 of the Oklahoma Administrative Code. To order an official copy of these rules, contact the Office of Administrative Rules at (405) 521-4911.

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OHCA - Genetic Testing

12 Pros and Cons of Genetic Testing | Biology Explorer

Pros and Cons of Genetic Testing: The human body is composed of millions of cells, which are considered as the basic units of life. Inside each cell lies the genetic material or the DNA (Deoxyribonucleic Acid).

Short sections of DNA are called together as the gene. The gene is also dubbed as the basic unit of heredity as it contains the information and instructions that dictate how the body should develop and function. Also, the gene is also important in the expression of inheritable characters and traits.

Previously weve seen disadvantages of genetically modified foods and genetic engineering pros & cons. In this article, well explore the pros and cons of genetic testing.

Genetic testing is a type of health program that involves the identification of any changes in genes, chromosomes, and proteins.

Do you have a family history of acquiring a specific disease? Or are you planning to have a child but afraid that he/she might inherit a trait you wouldnt want to? Genetic testing is the solution to all of these questions. The results of a genetic test confirm and eliminate the possibility of any suspected genetic disorder. Such results will be highly advantageous for the early treatment and prevention of diseases.

There are a lot of types of genetic testing depending on what you want to test. Genetic testing can range from biochemical tests, molecular approach, or simply family history questionnaires. To perform a genetic test, a tissue from any organ that usually develops during pregnancy can be obtained. Examples of such are the placenta, amniotic fluid (pregnant womans water), bone marrow, or blood.

Now we will explore the pros and cons of genetic testing. First, lets focus on pros.

There are a lot of potential advantages which can arise as a result of genetic testing. The following are some of them.

As with any disease, early diagnosis of the disease will greatly help in faster treatment. The results of genetic testing can also help your healthcare provider in predicting the likelihood and deciding about the management of the disorder. In addition, the results of the test can also help one to learn more about the genetic disease and how it may possibly affect them and their relatives as well.

For some people, finding out that they do not have the gene for a certain disease can become a blessing. They may feel a lot more peace because of the fact that they have not passed any gene abnormality to their children. In addition, because they no longer require the same type of medical treatment as with people who have the gene, the resources can be allotted to those who have the risk of having the disease.

Genetic tests can be helpful in establishing evidence for the parenthood of a person for a case like child custody and support. The results of genetic test can also be used as a support for placing a parents name on the birth certificate of a child. Depending upon the country/state where you live in, DNA testing can be ordered by the judge for settling disputes in child custody laws.

For instance, if there is a low probability of passing a certain unwanted genetic condition, couples can have be assured that they can have children free of the disorder. On the other hand, a positive result may give the couple an idea of deciding not to have children because doing so may result to a high risk of their child developing the condition.

Like how it can determine parenthood, being genetically tested can be helpful is determining and interpreting developmental delays in children. Reasons for significant lags in physical, mental, and emotional growth can be determined.

Also if a woman has two or more miscarriages or pregnancy over age 34, genetic testing will be helpful for early diagnosis which can help identify the appropriate treatment options.

While the process has great advantages indeed, there are several disadvantages that a person who wishes to undergo testing should be aware of. The following are some of them.

The physical risks associated with most genetic tests are indeed very small as some tests only require mere blood or tissue samples. However, some tests can be really destructive. As an example, the methods for prenatal testing involves the acquisition of amniotic fluid around the fetus. Such practice can be really dangerous because the mother may suffer from miscarriage.

As alluded to earlier, the results of genetic testing can provide freedom from any uncertainty. However, in some cases, the results of genetic testing may create an emotional trauma for the person who finds out that he/she has a certain disease. It can lead to an increased anxiety to the individual as he might blame himself for possessing a gene that causes the disorder and potentially passing it onto their children.

About this, the results of these tests may also create tension among family members when information about a family member is revealed. Having a negative test can cause emotional distress to the person because it gives him/her the feeling of survivor guilt from being unaffected by the disease while his/her sibling is at risk.

Genetic discrimination is the condition wherein a person feels and gets discriminated due to the fact that he/she possesses a genetic abnormality that increases the chances of him/her developing a certain genetic disorder. And because the results of genetic tests are included in a persons medical history, the fact that he/she has this abnormality becomes known to employers and other people in the workplace. As a result, people may treat him/her differently.

While it is true that some tests can be very specific about the genetic disorder, these test often cannot tell the severity of the manifestation of the disease. Also, a negative result may not be conclusive because it is not possible for a single test to identify all the genetic changes and abnormalities in a certain disorder. Because of this, additional tests may be necessary. Another thing is that while most genetic disorders can be easily diagnosed using these tests, there are still potentially millions of genetic mutations which are still not understood. Furthermore, treatment strategies are still lacking.

For instance, one disadvantage of using biochemical test as a genetic test is that proteins from the tissue samples are more unstable that the gene itself. Easy deterioration of samples means a higher chances of inaccuracy in the results. Therefore, they should be properly stored and analyzed immediately after obtaining.

Basically, the price of having genetic test will depend on various factors including the type of test and the clinic you visit. According to the National Human Genome Research Institute, the average cost of genetic testing in the US can range from less than $100 to $2,000! And as mentioned above, a single test may not be able to determine all genetic abnormalities so additional tests may be advised. The expensive price of genetic testing is only suitable for a small groups of patients because only those who can afford it can be tested.

It is important to note that not all tests have the same predictability. The accuracy of any result would be of course depend on whether the disorder is caused by an abnormality of the gene and chromosome or just a mere result of acquisition from the environment.

According to a study by the Harvard School of Public Health, a large majority of Americans are not into adopting this kind of genetic technology. In fact, only 6 percent of adults said that they had undergone genetic testing. While genetic testing is not compulsory, just like any medical intervention, this technique aims to do good than to harm.

However, some consequences of the process are inevitable. Therefore, to avoid such complications, it is vital to have counseling before and after genetic testing. In this way, individuals are free to choose whether they want to or dont want to undergo testing. And if needed, they could have extra support.

So if youre planning to be genetically tested, you might want to ponder about this question: Is having genetic testing a mere trend that offers unproven hope, or does it represent the first sign of treatment for affected patients? What do you think?

12 Pros and Cons of Genetic Testing

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12 Pros and Cons of Genetic Testing | Biology Explorer

Genetic Testing | MD Anderson Cancer Center

Between five and 10% of all cancers are hereditary, which means that changes (or mutations) in specific genes are passed from one blood relative to another. People who inherit one of these gene changes will have a higher risk of developing cancer at some point in their life. Genetic counseling can help people understand this risk.

Genetic counseling is not for everyone. In most cases, people who need genetic counseling fit into one of two groups.

Group one includes people who are cancer-free but, due to other medical conditions or family history, may have an increased risk for developing the disease. This includes people with:

Group two includes people who have a cancer diagnosis and want to learn if it is genetic. Not everyone with cancer needs genetic counseling, though. Instead, it is usually recommended for patients who have:

If you fit into one of these categories, it's a good idea to meet with a genetic counselor.

The first step to understanding your genetic cancer risk is a genetic counseling session. There are several steps to these sessions.

The genetic counselor will take your medical history, as well as a cancer-focused family tree going back generations. Based on this information, the counselor will discuss how your familys cancer history may be hereditary and what that means for you.

Genetic testsuse a patients blood sample to look for genetic mutations that may lead to an increased risk for some cancers. After the medical and family history review, the counselor will discuss whether genetic testing is right for you. You will also cover the ethical and legal issues of genetic testing. If the counselor recommends genetic testing, you will be given information about the appropriate test or tests.

Based on your family history and/or genetic test results, you will discuss ways to reduce your cancer risk. This discussion may cover cancer screening strategies, chemoprevention or even preventative surgery. You also may be referred to a high-risk screening clinic for further discussion and long-term cancer screening and monitoring.

Patients are often given the chance to join clinical research trials and registries. These can improve cancer care in many ways. For example, they can help doctors understand cancer risk factors and learn what screening and prevention methods work best.

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Genetic Testing | MD Anderson Cancer Center

Genetic Counseling | DNA Testing | Aurora Health Care

Aurora Hereditary Cancer Prevention and Management Center (HCPMC)

Have genetic counseling and DNA testing determined that you or your family members have a hereditary cancer syndrome? Families with hereditary cancer syndromes are at high risk for multiple types of cancer. Even families whose genetic testing results are normal may be at increased risk for multiple cancers if they have complex cancer histories.

If your family history of cancer has been determined to be hereditary, or if your complex family history cant be explained by genetic testing, you deserve comprehensive care from a multidisciplinary team of experts in a single, convenient location.

The Aurora Hereditary Cancer Prevention and Management Center (HCPMC) specializes in testing and monitoring individuals and families with complex or difficult hereditary cancer conditions.

Through the HCPMC, you can:

If youre at risk for multiple types of cancer, ask your doctor for a referral to the Aurora Hereditary Cancer Prevention and Management Center in Milwaukee or Green Bay.

The HCPMC in Milwaukee is located within the Vince Lombardi Cancer Clinic at St. Lukes Medical Center. The HCPMC in Green Bay is located within the Vince Lombardi Cancer Clinic at Aurora BayCare Medical Center.

Call 877-647-2502 for more information.

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Genetic Counseling | DNA Testing | Aurora Health Care

What is genetic testing? – Genetics Home Reference – NIH

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a persons chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed.

Several methods can be used for genetic testing:

Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.

Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the decision about whether to be tested is a personal and complex one. A geneticist or genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.

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What is genetic testing? - Genetics Home Reference - NIH

Genetic Testing | ASCO

Genetic testing can have implications for management of the cancer patients, including: surgical treatment, chemotherapy choices, prognosis and risk for additional cancers. It is therefore important to assess the risk of a hereditary syndrome at diagnosis, at decision points along the cancer treatment trajectory and again when entering survivorship or surveillance. An exhaustive list of implications of all cancer predisposition syndromes or germline alterations is beyond the scope of this toolkit; however we will provide some of the more common implications of identification of germline mutations in patients with cancer.

Genetic testing of a cancer assesses somatic genetic changes that may guide therapeutic choices (e.g., EGFR mutations for treatment of lung cancer). Some tumor (somatic) genetic testting will include mutations potentially inherited (germline) as well as those acquired in the tumor (somatic). Other genetic tests of the tumor will "subtract out" germline mutations by comparing mutations in the tumor to those found in sample of normal tissue or blood. It is important to understand which approach the genetic test you are reviewing has used. This toolkit does not address tumor somatic mutations. Germline genetic testing, usually performed on a blood sample, evaluates inherited genetic changes that increase the risk of certain cancers in an individual.

Benefits of Germline Genetic TestingGenetic testing can help identify cancers for which an individual is at increased risk. This increased risk can often be managed by increased surveillance, consideration of preventive medication or prophylactic surgery. In addition, identification of a familial germline mutation in a cancer susceptibility gene can alert family members who would also undergo genetic testing to clarify their own risk of cancer. Finally, identifying certain germline mutations may guide local and systemic treatment of a cancer (e.g., colectomy for a patient with colorectal cancer and Lynch syndrome; PARP inhibitor for a patient withovarian cancerwith aBRCA1/2mutation; avoidance of therapeutic radiation in a patient with breast cancerwith inheritedTP53mutation).

Germline mutations and second cancer risk: Second primary cancers occur in approximately 16% of all patients with cancer. Those individuals with strong family histories and/or pathogenic germline mutations in cancer-causing genes are at highest risk of second primary cancers. Genetic testing during survivorship or surveillance can identify those at greatest risk and action (more intense screening or preventive surgery) can be taken.

The guidelines below represent a selection of publicly available resources on genetic testing for specified cancer syndromes; this list is not exhaustive due to restrictions of member-only content. **Inclusion of third-party guidelines and recommendations should not be interpreted as formal endorsement by ASCO.**

Breast and Ovarian Cancer

Colorectal Cancer

Other Topics

Counseling

Heredity Diffuse Gastric Cancer

Medullary Thyroid Cancer

von Hippel-Lindau Syndrome

Comments or Questions?Please contact us atPrevention@asco.org

The ideas and opinions expressed here do not necessarily reflect the opinions of the American Society of Clinical Oncology (ASCO). The mention of any product, service, or therapy herein should not be construed as an endorsement of the products mentioned. The information herein should not be relied on as being complete or accurate, nor should it be considered as inclusive of all proper treatments or methods of care or as a statement of the standard of care. The information is not continually updated and may not reflect the most recent evidence. The information addresses only the topics specifically identified therein and is not applicable to other interventions, diseases, or stages of diseases. This information does not mandate any particular course of medical care. Furthermore, the information is not intended to substitute for the independent professional judgment of the treating provider, because the information does not account for individual variation among patients. Use of the information is voluntary. ASCO provides this information on an as-is basis and makes no warranty, express or implied, regarding the information. ASCO specifically disclaims any warranties of merchantability or fitness for a particular use or purpose. Links to third party websites are provided for your convenience, and ASCO does not endorse and is not responsible for any content, advertising or other material available from such sites. ASCO assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of this information or for any errors or omissions.

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Genetic Testing | ASCO

Pre-implantation Genetic Testing | IVF Australia

What is pre-implantation genetic testing (PGT)?

Pre-implantation Genetic Testing (PGT) is a sophisticated scientific technique which can be used to test embryos for either a specific known genetic condition or chromosome abnormality.

This enables only chromosomally normal embryos or those unaffected by a specific disorder to be selected for transfer during an IVF cycle, maximising the chance of a healthy baby.

Up to 70% of embryos created, either via natural conception or IVF dont survive the first 3 months of pregnancy and many dont achieve implantation because of those two reasons.

IVFAustralia offers an internationally recognised pre-implantation genetics program, managed by Australias leading pre-implantation genetics laboratory Virtus Diagnostics.

You may wish to consider pre-implantation genetic testing if you are concerned about any of the following issues:

In pre-implantation genetic testing, the woman goes through a standard IVF cycle. While the embryos are developing in the IVF laboratory, a few cells are removed from each embryo and tested in one of two ways.

The technique of Next Generation Sequencing tests all 24 chromosomes in an embryo to enable the selection and transfer of only chromosomally healthy embryos.

Read more about PGT with Next Generation Sequencing >

Karyomapping is used if you or your partner are known to be carriers of a serious single gene disorder.

Karyomapping can identify which embryos are NOT affected by the disorder preventing the condition from being passed on to the next generation.

Read more about PGT with Karyomapping >

Our genetic material, or DNA, is tightly coiled into structures called chromosomes. Every cell in an embryo should have 46 chromosomes, arranged in 23 pairs.An extra or missing chromosome means the embryo is abnormal. This is called aneuploidy and includes conditions such as Down syndrome, where there is an extra chromosome number 21.

These chromosome abnormalities or aneuploidies can affect up to 70% of early human embryos, and most cause the embryo to stopping developing resulting in failure to become pregnant or miscarriage.

We are able to test for a wide range of single gene disorders, including:

A chromosomal translocation is a condition where a piece, or pieces, of one chromosome are attached to a different chromosome.

Up to 2% of people with reproductive problems are found to have a balanced translocation.

A balanced translocation is where there is a chromosomal rearrangement but overall there is the correct amount of genetic material present so that the person himself or herself is completely healthy.

However, in this situation, some of their eggs or sperm will end up with the wrong amount of genetic material, leading to the embryo having an unbalanced translocation. i.e the embryo has the wrong amount of genetic material.

Embryos with an unbalanced translocation, usually miscarry, or are born with severe abnormalities.

If either partner carries a balanced translocation, we can use PGT with Next Generation Sequencing to test each embryo for the presence of an unbalanced translocation.

This enables the selection and transfer of only chromosomally normal embryos, maximising the chance of a successful pregnancy and a healthy baby.

Some genetic conditions affect one gender, for example haemophilia and muscular dystrophy. When it is not possible to detect the exact genetic error that causes the disease, PGT can be used to determine the gender of embryos, so only embryos of the required gender and with the correct number of chromosomes will be transferred.

Gender selection is prohibited for family balancing and can only be used for medical reasons.

Not as far as we know. Current research shows that the likelihood of a biopsied embryo implanting is exactly the same as a non-biopsied embryo. Despite the removal of a few cells from the embryo, there have been no reports of any health problems as a result of embryo biopsy in children conceived after PGT.

An IVF cycle with PGT has three components of cost:

PGT with Karyomapping for single gene disorders costs $1,640 for the preliminary evaluation plus $700 per embryo biopsied with a maximum cost of $2460 for 6 or more embryos from a single IVF cycle.

PGT with Next Generation Sequencingcosts $700 per embryo biopsied with a maximum cost of $3995 for up to 10 embryos.

There is no Medicare rebate associated with PGT. However your final costs may vary depending on your individual circumstances.

If you have any questions about the cost of pre-implantation genetic testing with IVF Australia please phone 18000 111 483 or email us.

Read more about the cost of IVF >

Pre-implantation genetic testing (previously referred amongst the community as PGD or pre-implantation genetic diagnosis) has helped many couples conceive healthy babies, many after long periods of infertility or with serious genetic diseases in the family.

We have a genetic team dedicated to helping patients who are at risk of inherited conditions and can provide you with information about these risks, and support you with any decisions you make.

If you know or suspect you have a genetic or chromosomal abnormality please come to a free fertility seminar or book an appointment with a fertility specialist.

Appointments are available within the next couple of weeks and will cost approximately $150 for a couple after the Medicare rebate.

Find out more about the costs of Pre-implantation Genetic Testing...Learn about Next Generation Sequencing...Find out more about Karyomapping...Find out more about Non-Invasive Prenatal Testing...Contact us for more information on PGT...

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Pre-implantation Genetic Testing | IVF Australia

Genetic Testing: BRCA1, BRCA2, and PALB2 Mutations

Three of the most well-known genes that can mutate and raise the risk of breast and/or ovarian cancer are BRCA1, BRCA2, and PALB2. Women who inherit a mutation, or abnormal change, in any of these genes from their mothers or their fathers have a much higher-than-average risk of developing breast cancer and/or ovarian cancer. (Abnormal PALB2 genes are suspected to raise the risk of ovarian cancer, but larger studies need to confirm that risk.) Men with these mutations have an increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of prostate cancer. Many inherited cases of breast cancer have been associated with mutations in these three genes.

The function of the BRCA and PALB2 genes is to keep breast cells growing normally and prevent any cancer cell growth. But when these genes contain the mutations that are passed from generation to generation, they do not function normally and breast cancer risk increases. Abnormal BRCA1, BRCA2, and PALB2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Most people who develop breast cancer have no family history of the disease. However, when a strong family history of breast and/or ovarian cancer is present, there may be reason to believe that a person has inherited an abnormal gene linked to higher breast cancer risk. Some people choose to undergo genetic testing to find out. A genetic test involves giving a blood or saliva sample that can be analyzed to pick up any abnormalities in these genes.

In this section, you can read more about the following topics related to genetic testing:

If you want to learn more about family-related risk and genetics, you can visit the Lower Your Risk section of this site.

Researchers have discovered, and are continuing to discover, other abnormal genes that are less common than BRCA1, BRCA2, and PALB2 but also can raise breast cancer risk. Testing for these abnormalities is not done routinely, but it may be considered on the basis of your family history and personal situation. You can work with your doctor to decide whether testing for gene abnormalities besides BRCA1, BRCA2, and PALB2 is warranted.

The medical experts for Genetic Testing are:

These experts are members of the Breastcancer.org Professional Advisory Board, which includes more than 70 medical experts in breast cancer-related fields.

"Simply having a proven gene abnormality does not necessarily mean that a woman will develop breast cancer, or that her cancer will be any worse than cancer that does not stem from an inherited genetic flaw."

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Genetic Testing: BRCA1, BRCA2, and PALB2 Mutations

Direct-to-Consumer Genetic Tests | Consumer Information

Could a simple medical test tell you if you are likely to get a particular disease? Could it evaluate your health risks and even suggest a specific treatment? Could you take this test in the privacy of your home, without a doctors prescription or guidance?

Some companies say genetic testing can do all this and more. They claim that direct-to-consumer (DTC) genetic testing can screen for diseases and provide a basis for choosing a particular diet, dietary supplement, lifestyle change, or medication. These companies primarily sell their tests online and through multi-level marketing networks.

The Federal Trade Commission (FTC) wants you to know the facts about the DTC marketing of genetic tests.

According to the Food and Drug Administration (FDA), which regulates the manufacturers of genetic tests, and the Centers for Disease Control and Prevention (CDC), which promotes health and quality of life, some of these tests lack scientific validity, and others provide results that are meaningful only in the context of a full medical evaluation. The FDA and CDC say that due to the complexities of both the testing and the interpretation of the results, genetic tests should be conducted in registered laboratories that are certified to handle specimens, and the results may need to be interpreted by a doctor or trained counselor who understands the value of genetic testing for a particular situation.

Inside the cells of your body, chromosomes carry your genetic blueprint. Your chromosomes are passed to you by your parents; they contain genes made of DNA (deoxyribonucleic acid). Your genes determine characteristics like eye color or height, and contribute to your chances of getting certain diseases.

Genetic tests examine genes and DNA to see if they indicate the presence of, or risk for developing, particular diseases or disorders. Several different types of tests are available. Some look at the number and shape of chromosomes to find obvious abnormalities. Others look for small unusual portions of individual proteins or variations in DNA. Genetic tests might look at one or a few variations in DNA or a million or more variations at one time. Typically, these tests require a blood sample, a swab from inside your cheek, or saliva. In DTC genetic tests, you collect the sample at home and then send to a laboratory for analysis. No physicians prescription is required. Prices of DTC genetic tests can range from less than $100 to a few thousand dollars. Sometimes, they are offered for free as long as the consumer agrees to buy other products from the seller, like nutritional supplements.

The results of genetic tests are not always yes or no for the presence or the risk for developing disease, which make interpretations and explanations difficult. In most cases, diseases occur as a result of interaction among multiple genes and the environment for example, a persons lifestyle, the foods they eat, and the substances to which theyre exposed, like sunlight, chemicals, and tobacco. The interactions of these factors in contributing to health and disease can be very complex. Even health care experts are just beginning to understand the relationships among these factors. Thats why it is important to gather and analyze this information with a qualified health care provider so you can be sure genetic data is accurate and correctly used.

Many genetic tests look at only a small number of the more than 20,000 genes in the human body. A positive result means that the testing laboratory found unusual characteristics or changes in the genes it tested. Depending on the purpose of the test, a positive result may confirm a diagnosis, identify an increased risk of developing a disease, or indicate that a person is a carrier for a particular disease. It does not necessarily mean that a disease will develop, or if it does, that the disease will be progressive or severe.

A negative result means that the laboratory found no unusual characteristics or changes in the genes it tested. This could mean that a person doesnt have a particular disease, doesnt have an increased risk of developing the disease, or isnt a carrier of the disease. Or it could mean that the test didnt examine or has missed the specific genetic changes associated with a particular disease.

In short, the FDA and CDC say that genetic testing provides only one piece of information about a persons susceptibility to disease. Other factors, including family background, medical history, and environment, also contribute to the likelihood of getting a particular disease. In most cases, genetic testing makes the most sense when it is part of a medical exam that includes a persons family background and medical history.

Some companies claim that DTC genetic tests can measure the risk of developing a particular disease, like heart disease, diabetes, cancer, or Alzheimers. But the FDA and CDC say that risks of such diseases come from many sources, not just genetic changes, and that valid studies are necessary to prove these tests give accurate results. Having a particular gene variation doesnt necessarily mean that a disease will develop; likewise, not having a particular gene variation doesnt necessarily mean that the disease will not occur.

Some companies also may claim that a person can protect against serious disease by choosing special foods and nutritional supplements. Consequently, the results of their DTC genetic tests often include dietary advice and sales offers for customized dietary supplements and cosmetics. The FDA and CDC say they dont know of any valid scientific studies showing that genetic tests can be used safely or effectively to recommend nutritional choices or to genetically customize dietary supplements or cosmetics.

As for claims that the tests can assess a persons ability to withstand certain environmental exposures, like particular toxins or cigarette smoke: Be skeptical. The FDA and CDC arent aware of any valid scientific studies that show that genetic tests can be used to predict whether a person can withstand environmental exposures.

Some companies have claimed that DTC genetic tests can give information about how a persons body will respond to a certain treatment, and how well people will respond to a particular drug. This claim is based on current medical research that shows differences in drug effectiveness based on genetic make-up. But, say federal experts, while these tests may provide some information your doctor needs or uses to make treatment decisions for a specific condition, they are not a substitute for a physicians judgment and clinical experience.

According to the FDA and CDC, DTC genetic tests arent a suitable substitute for a traditional health care evaluation. Medical exams that include conventional laboratory tests like blood chemistry and lipid profiles are a more appropriate starting point for diagnosing diseases and assessing preventive measures. Nevertheless, if you are considering using a DTC genetic test:

The Federal Trade Commission works for the consumer to prevent fraudulent, deceptive, and unfair business practices in the marketplace and to provide information to help consumers spot, stop, and avoid them. To file a complaint or to get free information on consumer issues, visit ftc.gov or call toll-free, 1-877-FTC-HELP (1-877-382-4357); TTY: 1-866-653-4261.

The Food and Drug Administration is responsible for protecting the public health by assuring the safety, efficacy, and security of human and veterinary drugs, biological products, medical devices, our nations food supply, cosmetics, and products that emit radiation. The FDA also is responsible for advancing the public health by helping to speed innovations that make medicines and foods more effective, safer, and more affordable; and helping the public get the accurate, science-based information they need to use medicines and foods to improve their health. For more information from the FDA, call toll-free 1-800-INFO-FDA. Copies of press releases and consumer alerts are available from the FDAs website atwww.fda.gov.

The Centers for Disease Control and Prevention is one of the 13 major operating components of the Department of Health and Human Services, which is the principal agency in the United States government for protecting the health and safety of all Americans and for providing essential human services, especially for those people who are least able to help themselves. For further information about CDC,visit http://www.cdc.gov, call toll-free 1-800-CDC-INFO, or e-mailcdcinfo@cdc.gov.

Produced in cooperation with the Food and Drug Administration (FDA) and the Centers for Disease Control and Prevention (CDC).

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Direct-to-Consumer Genetic Tests | Consumer Information

Direct-to-consumer genetic testing kits – Harvard Health

Published: September, 2010

You send in a sample and get your results online. But is it worth the price?

All disease is, to some degree, genetic. From cancer to the common cold, almost every human malady known to humankind has something to do with genes the stretches of DNA containing instructions for making the proteins that govern how our bodies are built and how they function. Your genes influence your risk for degenerative disorders the innumerable conditions from osteoporosis to Alzheimer's disease in which structure, function, or both deteriorate. They also influence allergic reactions, your ability to fend off infection, how you process nutrients and drugs, and even your susceptibility to accidents.

Trading on that knowledge and aided by technological advances that have improved the rate and accuracy of gene identification, a growing number of companies are marketing genetic testing kits directly to consumers. Their promotional materials promise to guide you to a healthier life by predicting your unique risk for developing scores of diseases and telling you how to prevent them.

The promise is enticing. Most of what we know about prevention and treatment is based on studies involving large numbers of people. Yet even the most successful regimens or therapies don't work for everyone. Genetic testing suggests the possibility of an approach to health care in which risk reduction and treatment are individually tailored. But buyer beware: while most scientists agree that the age of personalized medicine is on the horizon, many doubt that it's as close as the test-kit promotions would have you believe.

The Human Genome Project, completed in 2003, revealed just how much individual variation there is. Researchers worked out the order (or sequence) of the three billion DNA bases (chemical building blocks) that constitute the human genome (the complete set of human DNA). Although it's about 99% the same in all people, it still varies at more than 10 million DNA bases. That variation explains, in part, our varying degrees of risk for certain diseases.

In medical settings, genetic tests have been used to identify variations that cause serious health conditions. These tests are usually reserved for people known to be at risk for a specific disease because it runs in families. For example, couples planning a pregnancy may be tested to determine whether they carry the gene for Tay-Sachs disease. Women with close relatives who developed breast cancer early in life may want to know if they carry one of the high-risk BRCA genes. Because the results of such tests can alter lives, they are best administered only after individuals have been counseled on the risks, benefits, and limits of testing and have given informed consent. The results are confidential, and their implications should be explained to patients by genetic counselors.

Clinicians can also use genetic testing to help them select more effective drug treatments. For example, postmenopausal women with breast cancer for whom tamoxifen may be an option are sometimes tested to see if they have a gene variant that renders tamoxifen less effective; if they do, they can be prescribed a drug that works differently. Another genetic test may help determine whether patients at risk for blood clotting will benefit more from clopidogrel (Plavix) or from another drug such as prasugrel (Effient).

Direct-to-consumer genetic testing kits are marketed to people who aren't necessarily ill or at high risk for a disease, but who may be just curious or concerned about their risk for different disorders. Some of these tests require a physician's prescription, but many are sold directly to consumers on the Internet. The commercial tests examine a small number of the more than 20,000 genes in the human body and, in theory, predict your risk for conditions such as heart disease, colon cancer, and Alzheimer's disease; determine disease carrier status for pregnancy planning; and identify genetic variants that increase or decrease your ability to metabolize alcohol and certain drugs. Many also offer ancestry tracking identifying clusters of gene variations that are often inherited by a group of people with a common origin.

If you want to take a test, you will need an e-mail account and Internet access. After registering (and paying with a credit card) through the company's Web site, you'll be mailed a kit with instructions for collecting cells through saliva or a cheek swab. You mail the sample to a lab where it is analyzed and you receive a report within a specified time. Material accompanying your report may recommend strategies for reducing your risk of developing the condition your genes predict. You may also get telephone or e-mail access to a genetic counselor.

Commercial genetic tests are under scrutiny by the federal government. When Pathway Genomics announced in May 2010 that it would market its test kits through Walgreens drugstores, a Congressional committee launched an investigation. Meanwhile, the FDA has notified several consumer genetic-testing companies that they must apply for approval of the tests as medical devices (or explain why they think approval is unnecessary). The concern is that the companies are making scientifically unsupportable claims for the value of the tests in making health decisions. Walgreens has postponed plans to sell Pathway's kits in stores, and the investigations may force some changes in the way these tests are marketed.

If you're considering ordering a test kit, keep the following in mind:

They're expensive. The cost can run to several hundred dollars or more (see the chart, below), and it's not covered by insurance.

Your report will be based on incomplete knowledge. Your risk for conditions like heart disease, diabetes, and cancer depends on complex interactions between genes and lifestyle factors. Even diseases caused by a single gene, such as cystic fibrosis, are influenced by other genes that can affect, for example, the condition's severity. Researchers haven't identified all the genes responsible for these conditions or determined how factors such as diet or exercise influence the expression of those genes. Moreover, in many cases, the gene variations identified by the tests are only slightly associated with risk, or there is little good evidence to support any association.

The effects of a gene variation usually depend on other hereditary factors. It's important to get as much information as you can about members of your family and interpret the test results in that context. For example, if your father had a heart attack, did it occur at age 40 or age 80? The online test kits can't take that information into account.

Most of the tests have not been clinically validated. It will take large studies to determine whether the gene variations used in these tests accurately predict disease.

The test may not tell you anything you don't already know. By middle age, medical exams and screenings have probably given you a good idea of your risk for heart disease, diabetes, or osteoporosis. If you're uncertain, you can consult one of the well-established cost-free risk calculators, which include the Framingham Risk Assessment Tool for heart disease (www.health.harvard.edu/heartrisk), the Diabetes Risk Test (www.diabetes.org), and the FRAX tool, which estimates the 10-year likelihood of a hip or other major fracture (www.shef.ac.uk/FRAX).

Knowing the results won't always be useful. Identifying a genetic risk may inspire you to adopt a more healthful lifestyle, but it could also prompt you to seek diagnostic tests you don't need. It could even make you fatalistic and discouraged. Correspondingly, the absence of a genetic risk could create a false sense of security.

The follow-up report offers mostly generic advice. You may find that the payoff your personal guide to better health is a letdown. The recommendations are likely to be very similar to guidelines set by the Centers for Disease Control and Prevention or the National Institutes of Health, which are based on large-group or population-wide studies.

Company (Web site)

Sample

Conditions

Price

deCODE genetics(www.decodeme.com)

Cheek swab

Carrier status for disorders, disease risk, drug metabolism, ancestry

$2000 for complete panel; $500 each, cancer or heart panel. Genetic counseling included in price.

23andMe, Inc.(www.23andme.com)

Saliva

Carrier status for disorders, disease risk, drug metabolism, ancestry

$429 for health panel (carrier status, disease risk, drug metabolism); $399 for ancestry; $499 for both. Genetic counseling available for additional fee.

Pathway Genomics*(www.pathway.com)

Saliva

Carrier status for pregnancy planning, disease risk, drug metabolism, ancestry

$399 for disease risk panel; $249 each for ancestry, pregnancy planning, drug metabolism. Genetic counseling included in price.

Interleukin Genetics(www.ilgenetics.com)

Cheek swab

Obesity, heart attack, B vitamin metabolism, bone loss

$149 each; discounted prices for two or more. Genetic counseling and consultation included in price.

*Disclosure: Harvard Health Publishing, publishers of Harvard Women's Health Watch, has a licensing agreement with Pathway Genomics unrelated to this article.

If you're still interested in ordering a genetic test kit, start by exploring the company Web site for answers to these questions:

How accurate are the results? This depends on the quality of the sample and the reliability of the laboratory performing the analysis. You'll want to know what the company will do if your sample is unusable. Some will refund your payment; others will let you submit another sample. You will also want to make sure that the lab is accredited. In the United States, most clinical labs are certified by the Center for Medicare and Medicaid Services.

How will I know what my results mean? Most Web sites provide sample reports that allow you to judge the quality of the explanation and advice you'll get. The Web site should also tell you whether you can get help interpreting the results from a medical geneticist or a genetics counselor.

Will my results and any risk-reduction strategies be useful? Most reports will indicate which genetic variations you have and offer a general idea of what they mean. The risks of developing specific disorders will usually be given as a percentage above or below average or characterized as "high," "low" or "average." You should ask yourself whether you really want to know if you're even at slightly elevated risk for a serious disease you can do nothing to prevent, such as amyotrophic lateral sclerosis, or ALS, better known as Lou Gehrig's disease.

Is my information confidential? Under the Genetic Information Nondiscrimination Act, you cannot be denied a job or health insurance on the basis of your genetic information except in companies with fewer than 15 employees. The law does not apply to life, disability, or long-term care insurance. Be sure to find out about how your sample will be stored. If you're using an online test, your results should be presented on a secure server, anonymously stored, and password protected.

Someday everyone's genome may be sequenced as a matter of course, and the information used to guide our health decisions and medical care through life. But at present there is no direct evidence that these tests offer any practical benefits; that's why they aren't covered by health insurance. Genetically individualized medicine will have its day only when the predictive power of the tests improves and the cost of sequencing an individual's complete genome falls from its current level of $10,000 to $15,000 to a level where it's practical for large-scale use.

Right now, almost everything these tests offer is also available through medical professionals. If you think your genes put you at higher-than-average risk for certain diseases, talk to your clinician or a genetic counselor. A face-to-face counseling session will be far more informative and personal than an online testing kit, and it may even be covered by your health insurance.

If you're interested in acquiring your personal genome, consider applying to the Personal Genome Project at http://www.personalgenomes.org. It's an open-ended study aimed at matching gene variations with diseases in 100,000 people. And don't overlook the low-tech approach to genetics. Compile a medical history of your family in as much detail and for as many generations as possible. Then, if your genome becomes available, you'll have a context to place it in.

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Direct-to-consumer genetic testing kits - Harvard Health

Genetic Testing – KidsHealth

Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.

Genetic testing has developed enough so that doctors can often pinpoint missing or defective genes. The type of genetic test needed to make a specific diagnosis depends on the particular illness that a doctor suspects.

Many different types of body fluids and tissues can be used in genetic testing. For deoxyribonucleic acid (DNA) screening, only a very tiny bit of blood, skin, bone, or other tissue is needed.

For genetic testing before birth, pregnant women may decide toundergo amniocentesis or chorionic villus sampling. There is also a blood test available to women to screen for some disorders. If this screening test finds a possible problem, amniocentesis or chorionic villus sampling may be recommended.

Amniocentesis is a test usually performed between weeks 15 and 20of a woman's pregnancy. The doctor inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around the developing fetus. This fluid can be tested to check for genetic problems and to determine the sex of the child. When there's risk of premature birth, amniocentesis may be done to see how far the baby's lungs have matured. Amniocentesis carries a slight risk of inducing a miscarriage.

Chorionic villus sampling (CVS) is usually performed between the 10th and 12th weeks of pregnancy. The doctor removes a small piece of the placenta to check for genetic problems in the fetus. Because chorionic villus sampling is an invasive test, there's a small risk that it can induce a miscarriage.

A doctor may recommend genetic counseling or testing for any of the following reasons:

Although advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses, there are still some limits. Genetic tests can identify a particular problem gene, but can't always predict how severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on chromosome number 7 can't necessarily predict whether a child will have serious lung problems or milder respiratory symptoms.

Also, simply having problem genes is only half the story because many illnesses develop from a mix of high-risk genes and environmental factors. Knowing that you carry high-risk genes may actually be an advantage if it gives you the chance to modify your lifestyle to avoid becoming sick.

As research continues, genes are being identified that put people at risk for illnesses like cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is that someday it will be possible to develop specific types of gene therapy to totally prevent some diseases and illnesses.

Gene therapy is already being studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. However, severe complications have occurred in some patients receiving gene therapy, so current research with gene therapy is very carefully controlled.

Although genetic treatments for some conditions may be a long way off, there is still great hope that many more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but it's a very hopeful beginning.

Date reviewed: April 2014

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Genetic Testing - KidsHealth

The Universe of Genetic Testing | Lab Tests Online

Clinical genetic testing refers to the laboratory analysis ofDNAorRNAto aid in the diagnosis of disease. It is very important to understand that clinical genetic testing is quite different than other types of laboratory tests. Genetic testing is unique in that it can provide definitive diagnosis as well as help predict the likelihood of developing a particular disease before symptoms even appear; it can tell if a person is carrying a specific gene that could be passed on to his or her children; it can inform as to whether some treatments will work before a patient starts therapy. These are definite advantages. However, there are also some qualities of genetic testing that should be carefully thought out and perhaps discussed with agenetic counselorbefore undergoing any test. These aspects are reviewed in the section titledPros and Cons of Genetic Testing. In an era of patient responsibility, it is important that you be educated in these matters to fully appreciate the value as well as the drawbacks of genetic testing.

Testing Genetic Material

Testing of genetic material is performed on a variety of specimens including blood, urine, saliva, stool, body tissues, bone, or hair. Cells in these samples are isolated and the nucleic acids (DNA or sometimes RNA) within them is extracted and examined for possiblemutationsor alterations. Looking at small portions of the DNA within agenerequires specialized and specific laboratory testing. This is done to pinpoint the exact location of genetic errors. This section will focus on the examination of a person's genes to look for the one(s) responsible for a particular disease.

There are four basic reasons that genetic material is tested for clinical reasons. Presymptomatic testing identifies the presence of variant genes that cause disease even if the physical abnormalities associated with the disease are not yet present in an individual. Diagnostic genetic testing is performed on a symptomatic individual with symptoms sufficiently suggestive of a genetic disorder. This assists the individuals physician in making a clear diagnosis.

Testing of genetic material can also be performed as a prenatal screening tool to assess whether two individuals who wish to become parents have an autosomal orX-linked recessivegene that, when combined in a child, will produce a serious disorder in that child. This type of genetic testing is referred to ascarrierscreening. Fetuses developing in the uterus can also have their genetic material tested to assess their health status if it is thought to be in jeopardy.

To test DNA for medical reasons, some type of cellular material is required. This material can come from blood, urine, saliva, body tissues, bone marrow, hair, etc. The material can be submitted in a tube, on a swab, in a container, or frozen. If the test requires RNA, the same materials can be used. Once received in the laboratory, the cells are removed from the substance they are in, broken apart, and the DNA in thenucleiis isolated and extracted.

The laboratory professionals who perform and interpret these tests are specially trained physicians and scientists. The extracted DNA is manipulated in different ways in order for the molecular pathologist or genetic technologist to see what might be missing or mutated in such a way as to cause disease. One type of manipulation is "cutting" the DNA into small pieces using specialenzymes. These small pieces are much easier to test than the long strands of uncut DNA and they contain the genes of interest. Another manipulation is to apply the extracted and cut DNA to an agarose gel, apply an electrical field to the gel, and see how the DNA moves on the gel. This can indicate differences in the size of the pieces of the cut DNA that might be caused by specific mutations.

Other manipulations to DNA includeamplification, sequencing, or a special procedure called hybridization. When the results of these tests are examined and compared with results from a normal person, it is possible to see differences in the genes that might cause a disease.

Specific Genetic DiseasesThere are many diseases that are now thought to be caused by alterations in DNA. These alterations can either be inherited or can occur spontaneously. Some diseases that have a genetic component to them include:

Alzheimer's DiseaseBone Marrow DisordersBreast Cancer

Ovarian CancerColon CancerCystic Fibrosis

Down SyndromeHemochromotosisLeukemia

LupusLymphomaOsteoarthritis

Pre-senilin MutationSickle Cell AnemiaThalassemia

Several things can go wrong with the genes that make up the DNA, resulting in these and other diseases. The section below discusses what can happen to DNA, and specifically to genes, that might lead to a disease.

Genetic Variation and MutationAll genetic variations or polymorphisms originate from the process of mutation. Genetic variations occur sometimes during the process ofsomatic celldivision (mitosis). Other genetic variations can occur during meiosis, the cycle of division that a sperm cell or anovumgoes through. Some variations are passed along through the generations, adding more and more changes over the years. Sometimes these mutations lead to disease; other times there is no noticeable effect. Genetic variations can be classified into different categories: stable genetic variations, unstable genetic variations, silent genetic variations, and other types.

Stable genetic variations are caused by specific changes in single nucleotides. These changes are called single nucleotide polymorphisms or SNPs and can include:

If the SNP causes a new amino acid to be made, it is called a "missense mutation." An example of this is in sickle cell anemia, in which one nucleotide is substituted for another. The genetic variation in the gene causes a different amino acid to be added to a protein, resulting in a protein that doesn't do its job properly and causes cells to form sickle shapes and not carry oxygen.

Unstable genetic variations occur when a nucleotide sequence repeats itself over and over. This is called a "repeat" and is usually normal; however, if the number of repeats increases too greatly, it is called an "expanded repeat" and has been found to be the cause of many genetic disorders. An example of a disease caused by an expanded repeat isHuntington disease, a severe disorder of a part of the brain that is marked by dementia, hydrocephalus, and unusual movements.

Silent genetic variations are those mutations or changes in a gene that do not change the protein product of the gene. These mutations rarely result in a disease.

Other types of variations occur when an entire gene is duplicated somewhere in a person's genome. When this occurs, extra copies of the gene are present and make extra protein product. This is seen in a disorder that effects peripheral nerves and is called Charcot-Marie-Tooth disease type 1. Some variations occur in a special part of the gene that controls when DNA is copied to RNA. When the timing of protein production is thrown off, it results in decreased protein production. Other variations include a defect in a gene that makes a protein that serves to repair broken DNA in our cells. This variation can result in many types of diseases, including colorectal cancer and a skin disease called xeroderma pigmentosum.

Testing for Products of Genetic ExpressionMany inherited disorders are identified indirectly by examining abnormalities in the genetic end products (proteinsormetabolites) that are present in abnormal forms or quantities. As a reminder, genes code for the production of thousands of proteins and, if there is an error in the code, changes can occur in the production of those proteins. So, rather than detecting the problem in the gene, some types of testing look for unusual findings related to the pertinent proteins, such as their absence.

An example of testing for genetic products includes those widely used to screen newborns for a variety of disorders. For example, newborns are tested for phenylketonuria (PKU), an inherited autosomal recessive metabolic disorder caused by a variation in a gene that makes a special enzyme that breaks down phenylalanine, an amino acid. When too much of this substance builds up in blood, it can lead to mental retardation if not treated early in life with a special, restricted diet. The test uses a blood sample from a baby's heel to look for the presence of extra phenylalanine, rather than looking for the mutated gene itself. Other examples include blood tests for congenital hypothyroidism, diagnosed by low blood levels or absence of thyroid hormone, and congenital adrenal hyperplasia, a genetic disease that causes the hormone cortisol to be decreased in blood. Frequently, abnormal blood screening tests in the newborn may be augmented by genetic testing when appropriate (in cystic fibrosis, for example).

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The Universe of Genetic Testing | Lab Tests Online

Genealogical DNA test – Wikipedia

A genealogical DNA test is a DNA-based test which looks at specific locations of a person's genome in order to determine ancestral ethnicity and genealogical relationships. Results give information about ethnic groups the test subject may be descended from and about other individuals that they may be related to.

Three principal types of genealogical DNA tests are available, with each looking at a different part of the genome and useful for different types of genealogical research: Autosomal, Mitochondrial, and Y. In general, genealogical DNA tests do not give information about medical conditions or diseases.

The first company to provide direct-to-consumer genetic DNA testing was the now defunct GeneTree. However, it did not offer multi-generational genealogy tests. In fall 2001, GeneTree sold its assets to Salt Lake City-based Sorenson Molecular Genealogy Foundation (SMGF) which originated in 1999.[1] While in operation, SMGF provided free Y-Chromosome and mitochondrial DNA tests to thousands.[2] Later, GeneTree returned to genetic testing for genealogy in conjunction with the Sorenson parent company and eventually was part of the assets acquired in the Ancestry.com buyout of SMGF.[3]

In 2000, Family Tree DNA, founded by Bennett Greenspan and Max Blankfeld, was the first company dedicated to direct-to-consumer testing for genealogy research. They initially offered eleven marker Y-Chromosome STR tests and HVR1 mitochondrial DNA tests. They originally tested in partnership with the University of Arizona.[4][5] [6] [7] [8]

In 2007, 23andMe was the first company to offer a saliva-based direct-to-consumer genetic testing[9]. It was also the first to implement using autosomal DNA for ancestry testing, which all other major companies now use.[10][11]

In 2018 it was estimated that over 12 million people had had their DNA tested for genealogical purposes, most of whom were in the USA.[12]

A genealogical DNA test is performed on a DNA sample. This DNA sample can be obtained by a cheek-scraping (also known as a buccal swab), spit-cups, mouthwash, and chewing gum. Typically, the sample collection uses a home test kit supplied by a service provider such as Anglia DNA Services, 23andMe, AncestryDNA, Family Tree DNA, MyHeritage, or National Geographic Genographic Project). After following the kit instructions on how to collect the sample, it is returned to the supplier for analysis.

There are three major types of genealogical DNA tests: Autosomal and X-DNA, Y-DNA and mtDNA.

Y-DNA and mtDNA cannot be used for ethnicity estimates, but can be used to find one's haplogroup, which is unevenly distributed geographically.[14] Direct-to-consumer DNA test companies have often labeled haplogroups by continent or ethnicity (e.g., an "African haplogroup" or a "Viking haplogroup"), but these labels may be speculative or misleading.[14][15][16]

Autosomal DNA is contained in the 22 pairs of chromosomes not involved in determining a person's sex.[14] Autosomal DNA recombines each generation, and new offspring receive one set of chromosomes from each parent.[17] These are inherited exactly equally from both parents and roughly equally from grandparents to about 3x great-grand parents.[18] Therefore, the number of markers (one of two or more known variants in the genome at a particular location known as Single-nucleotide polymorphisms or SNPs) inherited from a specific ancestor decreases by about half each generation; that is, an individual receives half of their markers from each parent, about a quarter of their markers from each grandparent; about an eighth of their markers from each great grandparent, etc. Inheritance is more random and unequal from more distant ancestors.[19] Generally, a genealogical DNA test might test about 700,000 SNPs (specific points in the genome).[20]

The preparation of a report on the DNA in the sample proceeds in multiple stages:

All major service providers use equipment with chips supplied by Illumina.[21] The chip determines which SNP locations are tested. Different versions of the chip are used by different service providers. In addition, updated versions of the Illumina chip may test different sets of SNP locations. The list of SNP locations and base pairs at that location is usually available to the customer as "raw data". The raw data can sometimes be uploaded to another service provider to produce an additional interpretation and matches. For additional analysis the data can also be uploaded to GEDmatch (a third-party web based set of tools that analyzes raw data from the main service providers).

The major component of an autosomal DNA test is matching other individuals. Where the individual being tested has a number of consecutive SNPs in common with a previously tested individual in the company's database, it can be inferred that they share a segment of DNA at that part of their genomes.[22] If the segment is longer than a threshold amount set by the testing company, then these two individuals are considered to be a match. Unlike the identification of base pairs, the data bases against which the new sample is tested, and the algorithms used to determine a match, are proprietary and specific to each company.

The unit for segments of DNA is the centimorgan (cM). For comparison, a full human genome is about 6500 cM. The shorter the length of a match, the greater are the chances that a match is spurious.[23] An important statistic for subsequent interpretation is the length of the shared DNA (or the percentage of the genome that is shared).

Most companies will show the customers how many cMs they share, and across how many segments. From the number of cMs and segments, the relationship between the two individuals can be estimated, however due to the random nature of DNA inheritance, relationship estimates, especially for distant relatives, are only approximate. Some more distant cousins will not match at all.[24] Although information about specific SNPs can be used for some purposes (eg suggesting likely eye colour), the key information is the percentage of DNA shared by 2 individuals. This can indicate the closeness of the relationship. However, it does not show the roles of the 2 individuals - eg 50% shared suggests a parent - child relationship, but does not identify which individual is the parent.

Various advanced techniques and analysis can be done on this data. This includes features such as In-common/Shared Matches,[25] Chromosome Browsers[26] and Triangulation[27]. This analysis is often required if DNA evidence is being used to prove or disprove a specific relationship.

The X-chromosome SNP results are often included in Autosomal DNA tests. Both males and females receive an X-chromosome from their mother, but only females receive a second X-chromosome from their father.[28] The X-chromosome has a special path of inheritance patterns and can be useful in significantly narrowing down possible ancestor lines compared to atDNA for example an X-chromosome match with a male can only have come from his maternal side.[29] Like autosomal DNA, X-chromosome DNA undergoes random recombination at each generation (except for father to daughter X-chromosomes which are passed down unchanged). There are specialised inheritance charts which describe the possible patterns of X-chromosome DNA inheritance for males and females.[30]

Some genealogical companies offer autosomal STRs (short tandem repeats). These are similar to Y-DNA STRs. The number of STRs offered is limited, and not genealogically useful.

The mitochondrion is a component of a human cell, and contains its own DNA. Mitochondrial DNA usually has 16,569 base pairs (the number can vary slightly depending on addition or deletion mutations)[31] and is much smaller than the human genome DNA which has 3.2 billion base pairs. Mitochondrial DNA is transmitted from mother to child, thus a direct maternal ancestor can be traced using mtDNA. The transmission occurs with relatively rare mutations compared to the genome DNA. A perfect match found to another person's mtDNA test results indicates shared ancestry of possibly between 1 and 50 generations ago.[14] More distant matching to a specific haplogroup or subclade may be linked to a common geographic origin.

There is debate over whether or not paternal mtDNA transmission is possible in humans. Some authors cite paternal mtDNA transmission as invalidating mtDNA testing.[32] However, other studies hold that paternal mtDNA is never transmitted to offspring,[33] which would validate the use of mTDNA testing for genealogy.

mtDNA, by current conventions, is divided into three regions. They are the coding region (00577-16023) and two Hyper Variable Regions (HVR1 [16024-16569], and HVR2 [00001-00576]).[34]

The two most common mtDNA tests are a sequence of HVR1 and HVR2 and a full sequence of the mitochondria. Generally, testing only the HVRs has limited genealogical use so it is increasingly popular and accessible to have a full sequence. The full sequence is somewhat controversial because the coding region DNA may reveal medical information about the test-taker.[35]

All humans descend in the direct female line from Mitochondrial Eve, a female who lived probably around 200,000 years ago in Africa. Different branches of her descendants are different haplogroups. Most mtDNA results include a prediction or exact assertion of one's mtDNA Haplogroup. Mitochrondial haplogroups were greatly popularized by the book The Seven Daughters of Eve, which explores mitochondrial DNA.

It is not normal for test results to give a base-by base list of results. Instead, results are normally compared to the Cambridge Reference Sequence (CRS), which is the mitochondria of a European who was the first person to have their mtDNA published in 1981 (and revised in 1999).[36] Differences between the CRS and testers are usually very few, thus it is more convenient than listing one's raw results for each base pair.

Note that in HVR1, instead of reporting the base pair exactly, for example 16,111, the 16 is often removed to give in this example 111. The Letters refer to one of the 4 bases (A, T, G, C) that make up human DNA.

mtDNA testing was used by University of Leicester archaeologists to verify the skeletal remains of King Richard III, found in September 2012.[37]

The Y-Chromosome is one of the 23rd pair of human chromosomes. Only males have a Y-chromosome, because women have two X chromosomes in their 23rd pair. A man's patrilineal ancestry, or male-line ancestry, can be traced using the DNA on his Y chromosome (Y-DNA), because the Y-chromosome is transmitted father to son nearly unchanged.[38] A man's test results are compared to another man's results to determine the time frame in which the two individuals shared a most recent common ancestor, or MRCA, in their direct patrilineal lines. If their test results are very close, they are related within a genealogically useful time frame.[39] A surname project is where many individuals whose Y-chromosomes match collaborate to find their common ancestry.

Women who wish to determine their direct paternal DNA ancestry can ask their father, brother, paternal uncle, paternal grandfather, or a paternal uncle's son (their cousin) to take a test for them.

There are two types of DNA testing: STRs and SNPs.[14]

Most common is STRs (short tandem repeat). A certain section of DNA is examined for a pattern that repeats (e.g. ATCG). The number of times it repeats is the value of the marker. Typical tests test between 12 and 111 STR markers. STRs mutate fairly frequently. The results of two individuals are then compared to see if there is a match. Close matches may join a surname project. DNA companies will usually provide an estimate of how closely related two people are, in terms of generations or years, based on the difference between their results.[40]

A person's haplogroup can often be inferred from their STR results, but can be proven only with a Y-chromosome SNP tests (Y-SNP test).

A single-nucleotide polymorphism (SNP) is a change to a single nucleotide in a DNA sequence. Typical Y-DNA SNP tests test about 20,000 to 35,000 SNPs.[41] Getting a SNP test allows a much higher resolution than STRs. It can be used to provide additional information about the relationship between two individuals and to confirm haplogroups.

All human men descend in the paternal line from a single man dubbed Y-chromosomal Adam, who lived probably between 200,000 and 400,000 years ago. A 'family tree' can be drawn showing how men today descend from him. Different branches of this tree are different haplogroups. Most haplogroups can be further subdivided multiple times into sub-clades. Some known sub-clades were founded in the last 1000 years, meaning their timeframe approaches the genealogical era (c.1500 onwards).[42]

New sub-clades of haplogroups may be discovered when an individual tests, especially if they are non-European. Most significant of these new discoveries was in 2013 when the haplogroup A00 was discovered, which required theories about Y-chromosomal Adam to be significantly revised. The haplogroup was discovered when an African-American man tested STRs at FamilyTreeDNA and his results were found to be unusual. SNP testing confirmed that he does not descend patrilineally from the "old" Y-chromosomal Adam and so a much older man became Y-Chromosomal Adam.

Many companies offer a percentage breakdown by ethnicity or region. Generally the world is specified into about 2025 regions, and the approximate percentage of DNA inherited from each is stated. This is usually done by comparing the frequency of each Autosomal DNA marker tested to many population groups.[14] The reliability of this type of test is dependent on comparative population size, the number of markers tested, the ancestry informative value of the SNPs tested, and the degree of admixture in the person tested. Earlier ethnicity estimates were often wildly inaccurate, but their accuracies have since improved greatly.[citation needed] Usually the results at the continental level are accurate, but more specific assertions of the test may turn out to be incorrect. For example, Europeans often receive an exaggerated proportion of Scandinavian.[43] Testing companies will often regularly update their ethnicity estimate, changing an individual's ethnicity estimate.

The interest in genealogical DNA tests has been linked to both an increase in curiosity about traditional genealogy and to more general personal origins. Those who test for traditional genealogy often utilize a combination of autosomal, mitochondrial, and Y-Chromosome tests. Those with an interest in personal ethnic origins are more likely to use an autosomal test. However, answering specific questions about the ethnic origins of a particular lineage may be best suited to an mtDNA test or a Y-DNA test.

For recent genealogy, exact matching on the mtDNA full sequence is used to confirm a common ancestor on the direct maternal line between two suspected relatives. Because mtDNA mutations are very rare, a nearly perfect match is not usually considered relevant to the most recent 1 to 16 generations.[44] In cultures lacking matrilineal surnames to pass down, neither relative above is likely to have as many generations of ancestors in their matrilineal information table as in the above patrilineal or Y-DNA case: for further information on this difficulty in traditional genealogy, due to lack of matrilineal surnames (or matrinames), see Matriname.[45] However, the foundation of testing is still two suspected descendants of one person. This hypothesize and test DNA pattern is the same one used for autosomal DNA and Y-DNA.

As discussed above, autosomal tests usually report the ethnic proportions of the individual. These attempt to measure an individual's mixed geographic heritage by identifying particular markers, called ancestry informative markers or AIM, that are associated with populations of specific geographical areas. Geneticist Adam Rutherford has written that these tests "dont necessarily show your geographical origins in the past. They show with whom you have common ancestry today."[46]

The haplogroups determined by Y-DNA and mtDNA tests are often unevenly geographically distributed. Many direct-to-consumer DNA tests described this association to infer the test-taker's ancestral homeland.[16] Most tests describe haplogroups according to their most frequently associated continent (e.g., a "European haplogroup").[16] When Leslie Emery and collaborators performed a trial of mtDNA haplogroups as a predictor of continental origin on individuals in the Human Genetic Diversity Panel (HGDP) and 1000 Genomes (1KGP) datasets, they found that only 14 of 23 haplogroups had a success rate above 50% among the HGDP samples, as did "about half" of the haplogroups in the 1KGP.[16] The authors concluded that, for most people, "mtDNA-haplogroup membership provides limited information about either continental ancestry or continental region of origin."[16]

Y-DNA and mtDNA testing may be able to determine with which peoples in present-day Africa a person shares a direct line of part of his or her ancestry, but patterns of historic migration and historical events cloud the tracing of ancestral groups. Due to joint long histories in the US, approximately 30% of African American males have a European Y-Chromosome haplogroup[47] Approximately 58% of African Americans have at least the equivalent of one great-grandparent (13%) of European ancestry. Only about 5% have the equivalent of one great-grandparent of Native American ancestry. By the early 19th century, substantial families of Free Persons of Color had been established in the Chesapeake Bay area who were descended from free people during the colonial period; most of those have been documented as descended from white men and African women (servant, slave or free). Over time various groups married more within mixed-race, black or white communities.[48]

According to authorities like Salas, nearly three-quarters of the ancestors of African Americans taken in slavery came from regions of West Africa. The African-American movement to discover and identify with ancestral tribes has burgeoned since DNA testing became available. African Americans usually cannot easily trace their ancestry during the years of slavery through surname research, census and property records, and other traditional means. Genealogical DNA testing may provide a tie to regional African heritage.

Melungeons are one of numerous multiracial groups in the United States with origins wrapped in myth. The historical research of Paul Heinegg has documented that many of the Melungeon groups in the Upper South were descended from mixed-race people who were free in colonial Virginia and the result of unions between the Europeans and Africans. They moved to the frontiers of Virginia, North Carolina, Kentucky and Tennessee to gain some freedom from the racial barriers of the plantation areas.[49] Several efforts, including a number of ongoing studies, have examined the genetic makeup of families historically identified as Melungeon. Most results point primarily to a mixture of European and African, which is supported by historical documentation. Some may have Native American heritage as well. Though some companies provide additional Melungeon research materials with Y-DNA and mtDNA tests, any test will allow comparisons with the results of current and past Melungeon DNA studies

The pre-columbian indigenous people of the United States are called "Native Americans" in American English.[50] Autosomal testing, Y-DNA, and mtDNA testing can be conducted to determine the ancestry of Native Americans. A mitochondrial Haplogroup determination test based on mutations in Hypervariable Region 1 and 2 may establish whether a person's direct female line belongs to one of the canonical Native American Haplogroups, A, B, C, D or X. The vast majority of Native American individuals belong to one of the five identified mtDNA Haplogroups. Thus, being in one of those groups provides evidence of potential Native American descent. However, DNA ethnicity results cannot be used as a substitute for legal documentation.[51] Native American tribes have their own requirements for membership, often based on at least one of a person's ancestors having been included on tribal-specific Native American censuses (or final rolls) prepared during treaty-making, relocation to reservations or apportionment of land in the late 19th century and early 20th century. One example is the Dawes Rolls.

The Cohanim (or Kohanim) is a patrilineal priestly line of descent in Judaism. According to the Bible, the ancestor of the Cohanim is Aaron, brother of Moses. Many believe that descent from Aaron is verifiable with a Y-DNA test: the first published study in genealogical Y-Chromosome DNA testing found that a significant percentage of Cohens had distinctively similar DNA, rather more so than general Jewish or Middle Eastern populations. These Cohens tended to belong to Haplogroup J, with Y-STR values clustered unusually closely around a haplotype known as the Cohen Modal Haplotype (CMH). This could be consistent with a shared common ancestor, or with the hereditary priesthood having originally been founded from members of a single closely related clan.

Nevertheless, the original studies tested only six Y-STR markers, which is considered a low-resolution test. In response to the low resolution of the original 6-marker CMH, the testing company FTDNA released a 12-marker CMH signature that was more specific to the large closely related group of Cohens in Haplogroup J1.

A further academic study published in 2009 examined more STR markers and identified a more sharply defined SNP haplogroup, J1e* (now J1c3, also called J-P58*) for the J1 lineage. The research found "that 46.1% of Kohanim carry Y chromosomes belonging to a single paternal lineage (J-P58*) that likely originated in the Near East well before the dispersal of Jewish groups in the Diaspora. Support for a Near Eastern origin of this lineage comes from its high frequency in our sample of Bedouins, Yemenis (67%), and Jordanians (55%) and its precipitous drop in frequency as one moves away from Saudi Arabia and the Near East (Fig. 4). Moreover, there is a striking contrast between the relatively high frequency of J-58* in Jewish populations (20%) and Kohanim (46%) and its vanishingly low frequency in our sample of non-Jewish populations that hosted Jewish diaspora communities outside of the Near East."[52]

Recent phylogenetic research for haplogroup J-M267 placed the "Y-chromosomal Aaron" in a subhaplogroup of J-L862, L147.1 (age estimate 5631-6778yBP yBP): YSC235>PF4847/CTS11741>YSC234>ZS241>ZS227>Z18271 (age estimate 2731yBP).[53]

For people with European maternal ancestry, mtDNA tests are offered to determine which of eight European maternal "clans" the direct-line maternal ancestor belonged to. This mtDNA haplotype test was popularized in the book The Seven Daughters of Eve.

Genealogical DNA tests have become popular due to the ease of testing at home and their usefulness in supplementing genealogical research. Genealogical DNA tests allow for an individual to determine with high accuracy whether he or she is related to another person within a certain time frame, or with certainty that he or she is not related. DNA tests are perceived as more scientific, conclusive and expeditious than searching the civil records. However, they are limited by restrictions on lines that may be studied. The civil records are always only as accurate as the individuals having provided or written the information.

Y-DNA testing results are normally stated as probabilities: For example, with the same surname a perfect 37/37 marker test match gives a 95% likelihood of the most recent common ancestor (MRCA) being within 8 generations,[54] while a 111 of 111 marker match gives the same 95% likelihood of the MRCA being within only 5 generations back.[55]

As presented above in mtDNA testing, if a perfect match is found, the mtDNA test results can be helpful. In some cases, research according to traditional genealogy methods encounters difficulties due to the lack of regularly recorded matrilineal surname information in many cultures (see Matrilineal surname).[45]

Autosomal DNA combined with genealogical research has been used by adoptees to find their biological parents,[56] has been used to find the name and family of unidentified bodies[57] and by law enforcement agencies to apprehend criminals.[58]

Common concerns about genealogical DNA testing are cost and privacy issues.[59] Some testing companies[60] retain samples and results for their own use without a privacy agreement with subjects.[61][62]

Autosomal DNA tests can identify relationships with good accuracy out to about 2nd cousin,[63] but they have limitations.[64][65][66] In particular, transplants of stem cell or bone marrow will produce matches with the donor. In addition, identical twins (who have identical DNA) will share higher amounts of DNA with a greater range of relatives.[67]

Testing of the Y-DNA lineage from father to son may reveal complications, due to unusual mutations, secret adoptions, and false paternity (i.e., that the perceived father in a generation is not the father indicated by written birth records).[68] According to the Ancestry and Ancestry Testing Task Force of the American Society of Human Genetics, autosomal tests cannot detect "large portions" of DNA from distant ancestors because it has not been inherited.[69]

With the increasing popularity of the use of DNA tests for ethnicity tests, uncertainties and errors in ethnicity estimates are a drawback for Genetic genealogy. While ethnicity estimates at the continental level should be accurate (with the possible exception of East Asia and the Americas), sub-continental estimates, especially in Europe, are often inaccurate. Customers may be misinformed about the uncertainties and errors of the estimates.[70]

Some have recommended government or other regulation of ancestry testing to ensure its performance to an agreed standard.[71]

A number of law enforcement agencies attempt to coerce genetic genealogy companies that store customer's data into giving up information on their customers who could match cold case crime victims[72] or perpetrators. A number of companies fight the requests.[73] The Contra Costa County District Attorney's office used the "open-source" genetic genealogy site GEDmatch to find a relative of the suspect in the Golden State Killer case.[74][75]

Though genealogical DNA test results in general have no informative medical value and are not intended to determine genetic diseases or disorders, a correlation exists between a lack of DYS464 markers and infertility, and between mtDNA haplogroup H and protection from sepsis. Certain haplogroups have been linked to longevity in some population groups.[76][77]

The testing of full mtDNA sequences is still somewhat controversial as it may reveal medical information. The field of linkage disequilibrium, unequal association of genetic disorders with a certain mitochondrial lineage, is in its infancy, but those mitochondrial mutations that have been linked are searchable in the genome database Mitomap.[78] The National Human Genome Research Institute operates the Genetic And Rare Disease Information Center[79] that can assist consumers in identifying an appropriate screening test and help locate a nearby medical center that offers such a test.

Some[which?] genealogy software programs allow recording DNA marker test results, allowing for tracking of both Y-chromosome and mtDNA tests, and recording results for relatives.[80] DNA-family tree wall charts are available.

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What Are the Uses for Genetic Tests? – Verywell Health

As scientific and medical discoveries help us better understand how our genetic makeup affects our bodies and our health, new tests are also being developed to help individuals know whether their genes align with certain diseases or conditions. People have begun to wonder whether they should undergo genetic testing. That decision can be made by understanding what genetic testing is all aboutand reviewing the pros and cons of genetic testing.

For thousands of years, human bodies have developed diseases or conditions with very little knowledge about why. Why does one woman develop breast cancer, but another one does not? Why does one man develop Parkinson's disease, but another does not? While environmental factors could tell part of the story, it was recognized that there must be something about that person's body that contributed to the development of these medical problems, too.

Early development of medical science was mostly aimed at making sure diseases and conditions could be cured or healed. During the past 50 or 60 years, science began looking at a person's genetic makeup as a way to answer more fundamental questions about why humans varied in their development of these kinds of problems.

Other human body questions developed over time, too, often in response to legal questions. Questions like, who fathered a particular baby? Or whose blood was found on a murder weapon?

Beginning in the 1950s and '60s when DNA was discovered as the basis of human cells, and genes were discovered as the basis for DNA and heredity, and therefore no two human beings had exactly the same genes or DNA, scientists realized they could begin to answer some of those questions. For example, if they examined the genetic makeup of a group of people who had the same disease, they could come to some conclusions about the similarities of their genes, and why their genes were different from someone who did not have that disease. Or, if they mapped someone's DNA, they could compare it to someone else's DNA and know whether the two people were related.

By 2003, the Human Genome Project was completed, and scientists were able to identify every gene in a human's body. Other scientists began pairing them with the medical problems they cause. Among the earliest disease-identifiable genes were the BRCA genes, known to influence development of breast cancer. More new gene-disease identifications are being made every day.

As these pairings are discovered, scientists can begin to see how they influence development of disease or conditions, and can, hopefully, someday then develop ways to stop those genes from their destiny of creating those medical problems. These are the early days of personalized medicine. Personalized medicine means a person's genetic makeup is what influences either preventive steps to avoid disease, or drugs or other medical treatments that are tailored to a person based on their genetic makeup.

What Types of Genetic Tests Exist?

Some genetic tests have been around for decades. The testing of blood, saliva, hair and skin has been done for decades to determine everything from "whodunnit?" to paternity.

Others have been in use for several years. Genetic screening tests may take place before a baby is conceived to make determinations about whether parents' offspring will be prone to develop certain diseases or conditions. Prior to insemination, a woman and man will both undergo genetic testing to determine whether or not their baby will develop a genetic disease like cystic fibrosis, sickle cell, or Huntington's disease. Once they know the chances, they can better determine whether they should conceive that baby.

Today new tests are being developed for many types of diseases that may improve our knowledge of our health histories and possibly predict our health futures. Tests have been developed to determine someone's risk for developing Alzheimer's disease, high blood pressure, or lung cancer, or for example. These kinds of tests are in their infancy, and for most, scientists disagree on their accuracy.

Why Are There Questions About the Pros and Cons of Genetic Testing?

There are very few questions about the reliability of genetic testing for blood evidence, parent identification or pre-natal determinations because they are quite definitive and have already proved themselves to be useful.

Questions arise for those tests which have not yet proven their value. Even when a gene can be aligned with a certain disease, and even if it can be determined that someone possesses that version of a gene, that does not guarantee that person will develop the disease. Even if it could prove someone will develop the disease, there may be no way to alter that development or even treat them if they do develop it. Those are factors which influence the tests' value.

Scientists and researchers are definitely interested in making sure genetic testing takes place as they develop more and more approaches to personalized medicine. The more testing that takes place, the more evidence they have for procedures, processes, and treatments that may or may not work.

But today, there is little medical value for patients to have their genes tested in regards to future disease development. There are a few exceptionsthose aimed at identifying breast and other female cancers, for example. Over time, new, more definite tests and next steps will be developed for even more diseases and conditions.

Therefore, questions arise about whether or not someone should have their genes screened for these types of diseases today. You'll want to be aware of the pros and cons to genetic testing.

What Are the Pros of Genetic Testing?

For those tests that are already in regular use, like paternity or pre-natal genetic testing, there are well-document positive outcomes. They put people in control of information that helps them make solid decisions about their future medically, financially and legally. Having that kind of definitive knowledge is a definite pro for many people.

This is also true for those genetic tests that are in use for some disease predictions, such as the BRCA testing. Women who learn they have specific indicators and a good chance that they will develop the disease can make decisions based on that knowledge.

And that is the most important "pro" for any genetic testingknowledge. If you are someone who just wants to know about possibilities so you can make decisions, then you might want to have the testing. For example, you might be tested for genetic markers for Alzheimer's Disease. If you learn your body will have a tendency to develop Alzheimer's Disease, you might make preventive choices in your younger years to give yourself the best chance of not developing it.

One other positive outcome is that by having your genes screened, your information will be put into a database of information which can be shared by researchers and scientists around the world. They are learning more about how to use this information to develop treatment to help our children, their children and so forth in the future. In fact, some people are willing to undergo testing simply to further science, in hopes it will benefit their descendants.

What Are the Cons of Genetic Testing?

Because most of the world of genetic testing and personalized medicine is so new, there are still many questions it cannot address. Also, since most genetic testing only raises more questions, instead of providing answers, it may actually create more problems than it solves. Further, there are a number of legal and ethical implications surrounding genetic testing, most of which lean toward the negative.

Here are the questions which suggest those potential problems:

As time goes on, more tests will be developed, more laws will be created to address them, and personalized medicine will become an effective approach to treating human beings for medical problems. But for now, patients must review the pros and cons of genetic testing for themselves to decide whether it is the right step for them.

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What Are the Uses for Genetic Tests? - Verywell Health

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