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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… that DNA sequencing now allows us to test for specific genomic variants in an unborn baby using a small sample of a … Pregnancy can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with associated …
Testing
Testing
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News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined with advances in genomic medicine, has many predicting that prenatal whole genome sequencing will be widely available in …
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 … associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health …
Event
On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of CHild Health and Human Development (NICHD) hosted a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health.
… and Human Development (NICHD) hosted a joint workshop  - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … 6710B Rockledge Drive … Bethesda, Maryland … Genomic Medicine for Reproductive, Prenatal and Neonatal Health … On April 16-17, 2018, the …
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 Medicare need … ways of evaluating genetic tests for reimbursement. … Genomic medicine has the capacity to revolutionize clinical … covered. NHGRI hopes to serve as a resource for advancing genomic medicine by assisting all types of payers in their …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… when deciding what types of information to receive from prenatal whole genome sequencing. The study, by researchers … few years, it will significantly increase the amount of genomic information parents can learn about their fetus. But … consider having an abortion regardless of what the testing indicated. Women who identified as Hispanic or Latina …
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 out of, the … (CMS), and the Federal Trade Commission (FTC). Genetic and Genomic tests, like other types of diagnostic tests, can be … including laboratories conducting clinical genetic testing, through its CLIA program. CLIA refers to the …
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 … results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared … that have a higher risk of specific inherited diseases. Prenatal testing is offered during pregnancy to help identify …