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Archive for the ‘Genetic Testing’ Category

What is genetic testing? – Genetics Home Reference

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.

MedlinePlus offers a list of links to information about genetic testing.

The National Human Genome Research Institute provides an overview of this topic in its Frequently Asked Questions About Genetic Testing. Additional information about genetic testing legislation, policy, and oversight is available from the Institute.

The National Institutes of Health fact sheet Genetic Testing: What It Means for Your Health and for Your Familys Health provides a brief overview for people considering genetic testing.

Educational resources related to genetic testing are available from GeneEd.

You can also search for clinical trials involving genetic testing. ClinicalTrials.gov, a service of the National Institutes of Health, provides easy access to information on clinical trials. You can search for specific trials or browse by condition or trial sponsor. You may wish to refer to a list of studies related to genetic testing that are accepting (or will accept) participants.

Next: What are the types of genetic tests?

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What is genetic testing? - Genetics Home Reference

Genetic Testing – BRCA1 & BRCA2 Mutations | Susan G. Komen

Genetic testing gives people the chance to learn if their family history of breast cancer is due to an inherited gene mutation.

Most women who get breast cancer do not have an inherited gene mutation. Five to 10 percent of breast cancers in the U.S. are linked to an inherited gene mutation [4,33].

Every cell in your body contains genes. Genes contain the blueprints (genetic code) for your body. For example, they contain the information that determines the color of your eyes. They also contain information that affects how the cells in your body grow, divide and die.

The information in your genes is passed on (inherited) from both your mother and your father. And, you can pass this information on to your children, both your daughters and sons.

Some changes in the genetic code that affect the function of the gene are called mutations. Mutations are rare. However, just as with other information in genes, mutations can be passed on from a parent to a child.

Some inherited gene mutations increase breast cancer risk. BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the best-known genes linked to breast cancer. People who have a BRCA1 or BRCA2 mutation have a greatly increased risk of breast cancer and (for women) ovarian cancer. However, there are some options for lowering these increased risks.

Learn more about BRCA1 and BRCA2 mutations and breast cancer risk.

Komen Perspectives

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Although genetic testing for BRCA1 and BRCA2 is widely advertised, testing is only recommended for certain people, including those with [246]:

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Genetic Testing - BRCA1 & BRCA2 Mutations | Susan G. Komen

Genetic Testing: What You Should Know – FamilyDoctor.org

What are genes and how are they related to disease?

Genes are segments of DNA. Genes are found in chromosomes and they control growth and help you stay healthy. Sometimes, when genes are abnormal or damaged, they may not work properly, which may lead to disease. Some genetic abnormalities, or gene mutations, may run in families. Some just happen by chance. Sometimes one mutation can cause a person to have a disease, but most diseases are caused by a combination of genetic and environmental factors.

Genetic testing may help to show if youve inherited a tendency to get certain diseases. A sample of blood or skin is usually needed for genetic testing.

A positive test result means that you have the mutation youve been tested for. If you have a positive test result, it means you may be more likely to get a particular disease than most people, but it doesnt mean you will definitely get the disease.

A negative test result means that you dont have that particular mutation. This may mean that the disease doesnt run in your family. A negative result doesnt mean you wont get the disease. It only means that youre not more likely to get the disease than other people are.

By looking at your family history, your doctor can tell if youre likely to have a gene mutation that may contribute to disease. A disease might run in your family if a blood relative developed the disease at a young age or if several family members have the disease. People from certain ethnic groups may also be more likely to get certain diseases. If one of your family members already has the disease, that person should be tested first. This helps show which genes, if any, are associated with the disease.

If you think you may be at high risk for an inherited disease, talk to your family doctor. Your doctor will ask you questions about your health and the health of your blood relatives. This information will help your doctor find out what your risks might be. The information your doctor gives you about your risks can help you decide whether you want to be tested.

There are 2 important questions you should think about before you go through genetic testing:

1. What can I gain by being tested?

Here are some reasons you might want genetic testing:

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Genetic Testing: What You Should Know - FamilyDoctor.org

Types of Genetic Testing – Genetics Home Reference

Genetic testing can provide information about a persons 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 persons life, but is not available for all genes or all genetic conditions. The results of a diagnostic test can influence a persons 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 couples risk of having a child with a genetic condition.

Prenatal testing is used to detect changes in a fetuss 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 couples 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 persons 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).

A Brief Primer on Genetic Testing, which outlines the different kinds of genetic tests, is available from the National Human Genome Research Institute.

Educational resources related to patient genetic testing/carrier screening are available from GeneEd. Johns Hopkins Medicine provides additional information about genetic carrier screening.

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Types of Genetic Testing - Genetics Home Reference

Regulation of Genetic Tests

Regulation of Genetic Tests Overview of Genetic Testing

As the science of genomics advances, genetic testing is becoming more commonplace in the clinic. Yet most genetic tests are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller. The Food and Drug Administration (FDA) has the authority to regulate genetic tests, but it has to date only regulated the relatively small number of genetic tests sold to laboratories as kits. Whereas the Centers for Medicare and Medicaid Services (CMS) does regulate clinical laboratories, it does not examine whether the tests performed are clinically meaningful. Since the 1990s, expert panels and members of Congress have expressed concern about this regulatory gap and the need for FDA to address it. In response, the FDA in 2010 announced plans to expand its regulation to all genetic tests; this expansion has yet to take place. In the interim, FDA continues to regulate test kits, and has begun to regulate genomics tools in clinical research.

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The term "genetic testing" covers an array of techniques including analysis of human DNA, RNA, or protein.Genetic testsare used as a health care tool to detect gene variants associated with a specific disease or condition, as well as for non-clinical uses such as paternity testing and forensics. In the clinical setting, genetic tests can be performed to determine the genetic cause of a disease, confirm a suspected diagnosis, predict future illness, detect when an individual might pass a genetic mutation to his or her children, and predict response to therapy. They are also performed to screen newborns, fetuses, or embryos used in in vitrofertilization for genetic defects.

The first genetic tests were for the detection of chromosomal abnormalities (seekaryotype) and mutations in single genes causing rare, inherited disorders likecystic fibrosis. In recent years, however, the variety of tests has greatly expanded. There are now tests involving complex analyses of a number of genes to, for example, identify one's risk for chronic diseases such as heart disease and cancer, or to quantify a patient's risk of cancer reoccurrence. There are also many tests to predict the effectiveness of therapeutics and guide their administration. Furthermore, NHGRI is pursuing research to enable the clinical use of multi-gene panels, whole exome sequencing (analysis of all a patient's genes), and whole genome sequencing (analysis of a patient's entire genetic code), to detect, for instance, the cause of an undiagnosed disease or a cancerous tumor.

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Three federal agencies play a role in the regulation of genetic tests: CMS, FDA, and the Federal Trade Commission (FTC). CMS is responsible for regulating all clinical laboratories performing genetic testing, ensuring their compliance with the Clinical Laboratory Improvement Amendments of 1988 (CLIA). The objective of CLIA is to certify the clinical testing quality, including verification of the procedures used and the qualifications of the technicians processing the tests. It also comprises proficiency testing for some tests. More details of CLIA are available in this factsheet

The FDA has the broadest authority in terms of regulating the safety and effectiveness of genetic tests as medical devices under the Federal Food, Drug, and Cosmetic Act. Whether FDA regulates a test is determined by how it comes to market. A test may be marketed as a commercial test "kit," a group of reagents used in the processing of genetic samples that are packaged together and sold to multiple labs. More commonly, a test comes to market as a laboratory-developed test (LDT), where the test is developed and performed by a single laboratory, and where specimen samples are sent to that laboratory to be tested. The FDA regulates only tests sold as kits and, to date, has practiced "enforcement discretion" for LDTs.

The degree of FDA oversight of a genetic test is based on its intended use and the risks posed by an inaccurate test result. The FDA categorizes medical devices, including genetic tests, into three separate classes, ranging from class I, for relatively low risk products, to class III, where tests are subject to the greatest level of scrutiny.A complete list of approved human genetic tests is listed here.

FDA oversight also includes pharmacogenomics, which is the use of genomic information to help predict how an individual might respond to a particular drug, to identify individuals who might experience an adverse reaction to taking a drug, or to assist in selecting the optimal dosage of a drug. Part of the FDA's oversight of marketed drugs is to ensure that manufacturers provide information on drug labels about genetic markers that is relevant for drug safety and effectiveness. A list of approved pharmacogenomic drugs is available here.

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Regulation of Genetic Tests

FAQ About Genetic Testing – Genome.gov

Frequently Asked Questions About Genetic Testing What is genetic testing?

Genetic testing uses laboratory methods to look at your genes, which are the DNA instructions you inherit from your mother and your father. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

There are many different types of genetic tests. Genetic tests can help to:

Genetic test results can be hard to understand, however specialists like geneticists and genetic counselors can help explain what results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family members, sometimes a genetic test result may have implications for blood relatives of the person who had testing.

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Diagnostic testing is used to precisely identify the disease that is making a person ill. The results of a diagnostic test may help you make choices about how to treat or manage your health.

Predictive and pre-symptomatic genetic tests are used to find gene changes that increase a person's likelihood of developing diseases. The results of these tests provide you with information about your risk of developing a specific disease. Such information may be useful in decisions about your lifestyle and healthcare.

Carrier testing is used to find people who "carry" a change in a gene that is linked to disease. Carriers may show no signs of the disease; however, they have the ability to pass on the gene change to their children, who may develop the disease or become carriers themselves. Some diseases require a gene change to be inherited from both parents for the disease to occur. This type of testing usually is offered to people who have a family history of a specific inherited disease or who belong to certain ethnic groups that have a higher risk of specific inherited diseases.

Prenatal testing is offered during pregnancy to help identify fetuses that have certain diseases.

Newborn screening is used to test babies one or two days after birth to find out if they have certain diseases known to cause problems with health and development.

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FAQ About Genetic Testing - Genome.gov

Genetic Testing – Genetics Home Reference

Please choose from the following list of questions for information about testing to identify changes in a persons genes, chromosomes, or proteins.

On this page:

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.

MedlinePlus offers a list of links to information about genetic testing.

The National Human Genome Research Institute provides an overview of this topic in its Frequently Asked Questions About Genetic Testing. Additional information about genetic testing legislation, policy, and oversight is available from the Institute.

The National Institutes of Health fact sheet Genetic Testing: What It Means for Your Health and for Your Familys Health provides a brief overview for people considering genetic testing.

Educational resources related to genetic testing are available from GeneEd.

See the article here:
Genetic Testing - Genetics Home Reference

Genetic Testing Fact Sheet – National Cancer Institute

What is genetic testing?

Genetic testing looks for specific inherited changes (mutations) in a persons chromosomes, genes, or proteins. Genetic mutations can have harmful, beneficial, neutral (no effect), or uncertain effects on health. Mutations that are harmful may increase a persons chance, or risk, of developing a disease such as cancer. Overall, inherited mutations are thought to play a role in about 5 to 10 percent of all cancers.

Cancer can sometimes appear to run in families even if it is not caused by an inherited mutation. For example, a shared environment or lifestyle, such as tobacco use, can cause similar cancers to develop among family members. However, certain patternssuch as the types of cancer that develop, other non-cancer conditions that are seen, and the ages at which cancer typically developsmay suggest the presence of a hereditary cancer syndrome.

The genetic mutations that cause many of the known hereditary cancer syndromes have been identified, and genetic testing can confirm whether a condition is, indeed, the result of an inherited syndrome. Genetic testing is also done to determine whether family members without obvious illness have inherited the same mutation as a family member who is known to carry a cancer-associated mutation.

Inherited genetic mutations can increase a persons risk of developing cancer through a variety of mechanisms, depending on the function of the gene. Mutations in genes that control cell growth and the repair of damaged DNA are particularly likely to be associated with increased cancer risk.

Genetic testing of tumor samples can also be performed, but this Fact Sheet does not cover such testing.

Does someone who inherits a cancer-predisposing mutation always get cancer?

No. Even if a cancer-predisposing mutation is present in a family, it does not necessarily mean that everyone who inherits the mutation will develop cancer. Several factors influence the outcome in a given person with the mutation.

One factor is the pattern of inheritance of the cancer syndrome. To understand how hereditary cancer syndromes may be inherited, it is helpful to keep in mind that every person has two copies of most genes, with one copy inherited from each parent. Most mutations involved in hereditary cancer syndromes are inherited in one of two main patterns: autosomal dominant and autosomal recessive.

With autosomal dominant inheritance, a single altered copy of the gene is enough to increase a persons chances of developing cancer. In this case, the parent from whom the mutation was inherited may also show the effects of the gene mutation. The parent may also be referred to as a carrier.

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Genetic Testing Fact Sheet - National Cancer Institute

BowelGene – genetic testing – Video


BowelGene - genetic testing
BowelHealth UK offers a state of the art bowel cancer screening service to men and women over the age of 45. The new generation technology involved in BowelCheck is currently not available...

By: BowelHealth UK

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BowelGene - genetic testing - Video

Genetic Testing – One of the Best Things to Happen to Me – littlemamauk – Video


Genetic Testing - One of the Best Things to Happen to Me - littlemamauk
Check out my art page at: https://www.facebook.com/JessicaAprilArt You can 'like' me on Facebook for the latest videos and news at http://facebook.com/littlemamauk or follow me on Twitter...

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Genetic Testing - One of the Best Things to Happen to Me - littlemamauk - Video

Genetic Testing – Video


Genetic Testing

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Genetic Testing - Video

Prostate Cancer Genetic testing – Video


Prostate Cancer Genetic testing
ProstateHealth UK offers a state of the art prostate cancer screening service to men over the age of 40, currently not available on the NHS. Long term survival rates from prostate cancer are...

By: ProstateHealth UK

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Prostate Cancer Genetic testing - Video

Genetic testing technologies – Video


Genetic testing technologies
Howard Levy, MD, PhD discusses approaches to assessing genetic tests, including consideration of clinical utility, decision-making about selecting the best test for a patient, and the role...

By: The Jackson Laboratory

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Genetic testing technologies - Video

A New Price Tag for Breast Cancer Genetic Testing – Video


A New Price Tag for Breast Cancer Genetic Testing
http://www.dailyrxnews.com/color-genomics-offer-low-cost-analysis-genetic-risk-breast-and-ovarian-cancers A $4000 price tag might seem steep for genomic testing for breast or ovarian cancer....

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A New Price Tag for Breast Cancer Genetic Testing - Video

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