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- Genetic Architecture of Complex Traits1
- Genome Technology Program4
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
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 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 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, …
For Patients and Families
​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
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
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
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
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
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 …