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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
…  Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … … Pharmacogenomics uses information about a person's genetic makeup, or genome, to choose the drugs and drug doses … to using and developing drugs. Depending on your genetic makeup, some drugs may work more or less effectively …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… leading edge of incorporating genomics, as diagnostics for genetic and genomic markers are increasingly included in … ​ … Genomic Medicine, Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… the fundamental mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted … researchers may be able to determine the specific genetic mutations (changes in gene sequence) that caused the … the fundamental mechanisms of inherited and acquired genetic disorders. Their goals include both discovering the …
About Genomics
A introduction to basic concepts in genomics to help you understand your genome, how it works, and how it impacts your health.
… testing is for those who have a family member with a genetic disorder. The results help to determine a person’s … testing is used to confirm or rule out a suspected genetic disorder. The results of a diagnostic test may help … analyze your DNA and give information about your ancestry, kinship, lifestyle factors and potential disease …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… changes related to the disease. … Researchers often divide genetic diseases into two classes: those that are associated … variants in a single gene. Cystic fibrosis, a progressive genetic disease that causes long-term lung infections and … studies to date have examined individuals of European ancestry. Because of this issue, there may not be adequate …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… on data obtained from people with predominantly European ancestry. This means that pharmacogenomic tests may miss … with non-European ancestries. Including persons of diverse genetic ancestries in the development of future …
News Release
Researchers identified 13 gene regions that influence cholesterol levels, some of which affected people differently if they are smokers or former smokers.
… or fat-like substance in the blood) in people of African ancestry. The researchers investigated whether smoking … a concerted effort to include many people of non-European ancestry since there are too few genomics studies of diverse … of lipids in terms of number of participants with African ancestry. This enabled researchers to find new gene regions …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… The scope of practice for nurse practitioners related to genetic and genomic care includes but is not limited to the … care plans based on precision health principles.  Order genetic tests and provide pre- and post-test counseling.  … Consumers often pursue DTC testing to learn more about ancestry, but results may also include genetic variants …
Health
The Family Health History Group connects stakeholders, researchers, and thought leaders to share learning, understand barriers in depth, and discuss issues and potential solutions related to the collection of family health history information.
… University of Wisconsin - Madison Megan Frone, M.S., CGC Genetic Counselor Clinical Genetics Branch, Division of … of Nottingham Nirupama Nini Shridhar, Ph.D., M.P.H. Genetic Services Specialist Washington State Department of …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… aciduria type I - at the time, and still to date, a rare genetic disease with no known cure. Today, Dr. McGuire is one … instability that is associated with a cluster of genetic diseases (including glutaric aciduria type I) known …