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Genetic Testing FAQ | NHGRI

Benefits: Genetic testing may be beneficial whether the test identifies a mutation or not. For some people, test results serve as a relief, eliminating some of the uncertainty surrounding their health. These results may also help doctors make recommendations for treatment or monitoring, and give people more information for making decisions about their and their family's health, allowing them to take steps to lower his/her chance of developing a disease. For example, as the result of such a finding, someone could be screened earlier and more frequently for the disease and/or could make changes to health habits like diet and exercise. Such a genetic test result can lower a person's feelings of uncertainty, and this information can also help people to make informed choices about their future, such as whether to have a baby.

Drawbacks: Genetic testing has a generally low risk of negatively impacting your physical health. However, it can be difficult financially or emotionally to find out your results.

Emotional: Learning that you or someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results.

Financial: Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing.

Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see

Limitations of testing: Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing.

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Genetic Testing FAQ | NHGRI

Low Rates of Genetic Testing in Ovarian, Breast Cancer …

April 9, 2019, by NCI Staff

Many women diagnosed with ovarian and breast cancers are not receiving tests for inherited genetic mutations, according to a new study.

Credit: iStock

Tests for inherited genetic mutations can provide women diagnosed with ovarian or breast cancer with important information that can have implications for family members and potentially guide treatment decisions and longer-term screening for second cancers. However, many women with ovarian and breast cancers are not receiving these genetic tests, a new study suggests.

An NCI-funded analysis of data on more than 83,000 women from large cancer registries in California and Georgia found that, in 2013 and 2014, only about one-quarter of women with breast cancer and one-third of women with ovarian cancer underwent testing for known harmful variants in breast and ovarian cancer susceptibility genes.

The study also found that among patients who did receive genetic testing, 8% of breast cancer patients and 15% of ovarian cancer patients had actionable gene variants, meaning variants that might warrant changes in treatment, screening, and risk-reduction strategies.

The findings, published April 9, 2019, in the Journal of Clinical Oncology, were surprising, especially the low rate of testing among women with ovarian cancer, said lead author Allison Kurian, M.D., M.Sc., of Stanford University School of Medicine.

Genetic testing has become quite cheap and accessible, and this study includes a time period when it was becoming much cheaper, so its striking that we still see low rates of testing, Dr. Kurian said. I think that suggests that there are most likely other barriers outside of cost.

The study also revealed racial and socioeconomic disparities in testing rates among women diagnosed with ovarian cancer. Genetic testing rates were far lower for black women than for white women, and they were also lower for uninsured patients than for insured patients.

These findings have uncovered a [disparities] gap that is much more substantial than I would have thought, Dr. Kurian said.

About 15% of ovarian cancers are caused by inherited mutations, and several medical organizations recommend that all women diagnosed with ovarian cancer receive genetic testing.

For women with breast cancer, the recommendations for genetic counseling and testing are generally more limited, typically relying on factors such as age at cancer diagnosis and family history. However, some organizations, including the American Society of Breast Surgeons, recommend that genetic testing be made available to all women diagnosed with breast cancer.

There are many reasons why women with ovarian and breast cancer would get tested, Dr. Kurian explained.

We know that if patients have a specific inherited gene mutation, they will likely have more benefit from a new class of drugs called PARP inhibitors, she said.

The Food and Drug Administration has approved three PARP inhibitors for BRCA1-and BRCA2-associated ovarian cancer and two for BRCA1/2-associated metastatic breast cancer. Harmful variants of both BRCA1 and BRCA2 are known to increase the risk of breast and ovarian cancer, as well as of several other types of cancer.

Another reason to get tested is that patients with a genetic mutation that is associated with breast or ovarian cancer may be at higher risk of a second cancer, so you dont want to miss a second cancer that could be a problem, Dr. Kurian said.

The findings could also be life-saving information for a patients relatives. If you find that she carries a mutation, every first-degree relative, male or female, has a 50% chance of having the same mutation, she said.

Testing, then, could allow for enhanced screening and prevention for family members who are carriers, she explained.

The study included all women older than age 20 who were diagnosed with breast or ovarian cancer in California and Georgia from 20132014 and whose data were reported to NCIs Surveillance, Epidemiology and End Results (SEER) registries. There were 77,085 patients with breast cancer and 6,001 with ovarian cancer. The registry data were linked to results from four laboratories that performed nearly all the genetic testing for inherited, or germline, mutations in these states during the study period.

According to the authors, this is the first population study of hereditary cancer genetic testing in the United States with laboratory-confirmed testing results.

Weve never had this kind of linkage available before, giving us a baseline to let us know if the standard of care [for testing] was being followed, said study coauthor Lynne Penberthy, M.D., M.P.H., associate director for NCIs Surveillance Research Program. Thats why this is really important. These data can be used to see where we are and where were going. We can continue to provide this information, so people can see, hopefully, an increase in the appropriate use of genetic testing over time.

Linking the SEER registry data to the testing data in this study provides really objective data about the massive undertesting of ovarian cancer patients, said Susan Domchek, M.D., executive director of the Basser Center for BRCA at the University of Pennsylvania Abramson Cancer Center, who was not involved in the study.

Testing is recommended for all patients with ovarian cancer, she added, so the fact that only one-third of these patients had it done in this time period is a clear-cut example that were not testing ovarian cancer patients the way that we should be.

While large racial and socioeconomic disparities in testing rates were not observed among women with breast cancer, among women with ovarian cancer, testing rates were far lower in black women than white women (21.6% versus 33.8%) and in uninsured women than insured women (20.8% versus 35.3%).

Understanding why genetic testing rates are so low in women with ovarian cancer and why racial and socioeconomic disparities in testing exist among women with the disease is tricky, Dr. Kurian said.

Testing in ovarian cancer has not been widely studied beforedefinitely not at the population leveland not in such a diverse population, she added, so theres a lot we dont know about barriers.

For example, she said, its unclear whether genetic testing is on the radar screen of doctors treating patients with ovarian cancer as much as it is for patients with breast cancer. Dr. Domchek said there could also be misconceptions among patients about the costs of genetic testing.

But if access to genetic counseling or information on testing is difficult, clearing up these misconceptions can be a challenge, she said. So, trying to figure out how to better streamline [counseling and education] into practice to make sure all of these individuals with ovarian cancer get tested is a subject of ongoing research.

Dr. Domchek noted that NCI is looking to fund studies that offer genetic testing to women with a personal or family history of ovarian cancer to see if it can help to identify members of their families who may be at increased cancer risk.

Although variants in the BRCA1 and BRCA2 genes were the most frequently found in the study, the laboratories also looked for other inherited cancer-related genetic mutations using tests known as multigene panels.

The results provide an understanding, on a broader scale, of how common these mutations are, Dr. Kurian said.

The multigene panel testing led to other noteworthy findings, Dr. Penberthy said.

What was really interesting was that while BRCA1 and BRCA2 were the most common germline mutations that we found in the study, there were other mutations that were not uncommon and that were actionable in terms of treatment as well, she explained.

For example, 60 women with breast cancer in the study had a mutation in the CDH1, PALB2, or PTEN genes. These mutations are associated with a substantially increased breast cancer risk, Dr. Kurian said, so women who have these mutations may consider having both breasts removed (a risk-reducing bilateral mastectomy), rather than just the breast in which the tumor was found.

And widely used clinical guidelines recommend that women with breast cancer who have certain inherited genetic mutations,including in genes such as ATM and CHEK2,undergo more intensive screening for second cancers. In the study, mutations in ATM and CHEK2 were found in 0.7% and 1.6% of women with breast cancer, respectively.

Mutations in CHEK2 and PALB2and several other genes were found both in women with breast cancer and women with ovarian cancer. Studies havent yet linked these genes with increased ovarian cancer risk, so further study is warranted, the authors wrote.

However, the key message from this study is the undertesting of ovarian cancer patients, who clearly need it, Dr. Domchek said.

Its not to say we shouldnt debate population screening [for inherited mutations], or which genes to test for, and how were going to do it, she said. But first, for heavens sake, lets test the people who absolutely need testing, not only because it impacts family members, but also because now we have first-line therapy with PARP inhibitors. Every woman with ovarian cancer should know her BRCA1 or BRCA2 status.

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Low Rates of Genetic Testing in Ovarian, Breast Cancer ...

Genetic testing –

The originating document has been archived. We cannot confirm the completeness, accuracy and currency of the content.

Medically reviewed on Jul 19, 2018

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes or alterations in your genes that may cause illness or disease.

Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.

Talking to your doctor or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.

Several types of genetic testing are done for different reasons:

Before you undergo genetic testing, gather as much information as you can about your family's medical history. Then, talk with your doctor or a genetic counselor about your personal and family medical history. This can help you better understand your risk. Discuss questions or concerns you have about genetic testing at that meeting. Also, talk about your options, depending on the results of the test.

If you are being tested for a genetic disorder that runs in families, you may want to consider discussing your decision to undergo genetic testing with your family. Having these conversations before testing can give you a sense of how your family might respond to your test results and how it will affect them.

Not all health insurance pays for genetic testing. So, before you have a genetic test, check with your insurance provider to see what will be covered. In the United States, the federal Genetic Information Nondiscrimination Act (GINA) helps prevent health insurers or employers from discriminating against you based on test results. Most states offer additional protection.

Your doctor, medical geneticist or nurse practitioner may administer a genetic test. Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis.

The amount of time it takes for you to receive your genetic testing results will depend on the type of test and your health care facility. Talk to your doctor before the test about when you can expect the results. The lab will likely provide the test results to your doctor in writing. Your doctor can then discuss them with you.

If the genetic test result is positive, that means the genetic alteration that was being tested for was detected. The steps you take after you receive a positive result will depend on the reason you underwent genetic testing. If the purpose was to diagnose a specific disease or condition, a positive result will help you and your doctor determine the right treatment and management plan.

If you were tested to find out if you are carrying an altered gene that could cause disease in your child, and the test is positive, your doctor or a genetic counselor can help you determine your child's risk of actually developing the disease. The test results can also provide information to consider as you and your partner make family planning decisions.

If you were having gene testing to determine if you might develop a certain disease, a positive test doesn't necessarily mean you will get that disorder. For example, having a breast cancer gene (BRCA1 or BRCA2) means you are at high risk of developing breast cancer at some point in your life, but it doesn't indicate with certainty that you will get breast cancer. However, there are some conditions, such as Huntington's disease, for which having the altered gene does indicate that the disease will eventually develop.

Talk to your doctor about what a positive result means for you. In some cases, you can make lifestyle changes that may decrease your risk of developing a disease, even if you have an altered gene that makes you more susceptible to a disorder. Results may also help you make choices related to family planning, careers and insurance coverage.

In addition, you may choose to participate in research or registries related to your genetic disorder or condition. These options may help you stay updated with new developments in prevention or treatment.

A negative result means a genetic alteration was not detected by the test. But a negative result doesn't guarantee that you don't have an alteration. The accuracy of genetic tests to detect alterations varies, depending on the condition being tested for and whether or not an alteration has been previously identified in a family member.

Even if you don't have the genetic alteration, that doesn't necessarily mean you will never get the disease. For example, people who don't have a breast cancer gene (BRCA1 or BRCA2) can still develop breast cancer. Also, genetic testing may not be able to detect all genetic defects.

In some cases, a genetic test may not be able to provide helpful information about the gene in question. Everyone has variations in the way genes appear (polymorphisms), and often, these variations don't affect your health. But sometimes it can be difficult to distinguish between a disease-causing gene alteration and a harmless gene variation. In these situations, follow-up testing may be necessary.

No matter what the results of your genetic testing, talk with your doctor or genetic counselor about questions or concerns you may have. This will help you understand what the results mean for you and your family.

Last updated: July 19th, 2013

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Genetic testing -

What are the types of genetic tests? – Genetics Home …

Genetic testing can provide information about a person's genes and chromosomes. Available types of testing include:

Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Millions of babies are tested each year in the United States. All states currently test infants for phenylketonuria (a genetic disorder that causes intellectual disability if left untreated) and congenital hypothyroidism (a disorder of the thyroid gland). Most states also test for other genetic disorders.

Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing can be performed before birth or at any time during a person's life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a person's choices about health care and the management of the disorder.

Carrier testing is used to identify people who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in certain ethnic groups with an increased risk of specific genetic conditions. If both parents are tested, the test can provide information about a couple's risk of having a child with a genetic condition.

Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's uncertainty or help them make decisions about a pregnancy. It cannot identify all possible inherited disorders and birth defects, however.

Preimplantation testing, also called preimplantation genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child with a particular genetic or chromosomal disorder. It is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. In-vitro fertilization involves removing egg cells from a womans ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus to initiate a pregnancy.

Predictive and presymptomatic types of testing are used to detect gene mutations associated with disorders that appear after birth, often later in life. These tests can be helpful to people who have a family member with a genetic disorder, but who have no features of the disorder themselves at the time of testing. Predictive testing can identify mutations that increase a person's risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine whether a person will develop a genetic disorder, such as hereditary hemochromatosis (an iron overload disorder), before any signs or symptoms appear. The results of predictive and presymptomatic testing can provide information about a persons risk of developing a specific disorder and help with making decisions about medical care.

Forensic testing uses DNA sequences to identify an individual for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with disease. This type of testing can identify crime or catastrophe victims, rule out or implicate a crime suspect, or establish biological relationships between people (for example, paternity).

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What are the types of genetic tests? - Genetics Home ... AncestryDNA: Genetic Testing Ethnicity: Health …

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Read the original here: AncestryDNA: Genetic Testing Ethnicity: Health ...

NSGC > Genetic Testing > About Genetic Testing

There are thousands of genetic tests, meaning we can test for many of these genetic mutations. But there are also many mutations that we dont have tests for.

Whether or not to have genetic testing is complicated. What will it tell you? What will you do about it once you get the results? Will having that information help you or not? Thats why the insight and guidance provided by a genetic counselor is invaluable. A genetic counselor can explain the different types of tests available and what they may and may not tell you as well as how they may or may not help you.

Genetic tests are generally performed as part of your clinical care. However, there are times when you may be offered one or more genetic tests as part of a research study. If this is the case, the genetic counselor or study staff will review the study in detail so that you can decide whether or not to participate

View thisresourcethat includes helpful information and critical points to consider throughout the genetic testing process.

Find a Genetic Counselor

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NSGC > Genetic Testing > About Genetic Testing

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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Genetic Testing at Dana-Farber Cancer Institute - Dana ...

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. 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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Genetic testing company FamilyTreeDNA is sharing customers ...

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.

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

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.


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):


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

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


Heredity Diffuse Gastric Cancer

Medullary Thyroid Cancer

von Hippel-Lindau Syndrome

Comments or Questions?Please contact us

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 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