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Policy Issues

Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.

… As the field of genomics advances, genetic and genomic tests are becoming more common in, and … and regulated on the following three criteria, adapted from the National Library of Medicine's Genetics Home … Reference . Analytical Validity: Refers to how well the test predicts the presence or absence of a particular gene or …

Educational Resources

Genetic Testing

Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.

… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a … Testing, Genetic Counselor, Newborn Screening, Family Health History … Genetic testing is the use of a laboratory …

Talking Glossary

Methylation

Methylation is a chemical modification of DNA and other molecules that may be retained as cells divide to make more cells. regulating the production of proteins that the gene encodes.

… Methylation … Methylation is a chemical modification of DNA and other … that may be retained as cells divide to make more cells. … Methylation is a chemical modification of DNA and other … as cells divide to make more cells. When found in DNA, methylation can alter gene expression. In this process, …

Testing

For Patients and Families

Genetic Testing FAQ

Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

… 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 … newborn babies for certain treatable conditions Genetic test results can be hard to understand, however specialists …

Policy Issues

Coverage and Reimbursement of Genetic Tests

Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.

… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and … may not be able to easily evaluate what type of genetic test was performed, whether the test was appropriate to … Nondiscrimination Act (GINA) that prevents insurers from discriminating against patients in these manners. There …

News

Researchers optimize genetic tests for diverse populations to tackle health disparities

To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.

… Improved genetic tests more accurately assess disease risk regardless … ancestry. … To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National …

15 Ways Genomics Influences Our World

Noninvasive Prenatal Genetic Testing

Genomics is revolutionizing health assessments before birth.

… birth. … Did you know that DNA sequencing now allows us to test for specific genomic variants in an unborn baby using a … can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with … a risk for miscarriage. It involves a simple blood draw from the pregnant women. This is called cell-free fetal DNA …

News Release

From one genomic diagnosis, researchers discover other treatable health conditions

Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.

… for a list of treatable diseases apart from the one that brought them into the clinic. … In 2015, … understand their treatment options. "Most people seek out genetic testing because they know of a strong family history … way for him to find out his ancestry. Her father took the test, and his results revealed a high percentage of Jewish …

Healthcare Provider Genomics Education Resource

Direct-to-Consumer Genetic Testing FAQ for Healthcare Professionals

An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.

… Direct-to-Consumer Genetic Testing for Healthcare Professionals What is … approaches to clinic-based genetic testing involve a pre-test consultation to identify and document potential genetic … next-generation sequencing, copy number analysis or methylation analysis. The methodology used depends on the …