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Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… genome sequencing in addition, or instead of, existing testing programs? Are there additional considerations to … Newborn Screening, Genetic Testing, Healthcare, Genetic Material, Gene Mutation, Genes …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… Medicine, Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
… How does COVID-19 PCR testing work? COVID-19 testing uses a modified version of PCR called quantitative …   The testing process begins when healthcare workers collect … companies to rapidly deploy COVID-19 PCR diagnostic testing early in the pandemic. … Understanding COVID-19 PCR Testing …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… cells lining the airways of lungs. Researchers are now testing aerosol delivery using nebulizers. But finding the … that the child will be a carrier. The purpose of carrier testing - a laboratory test done on a sample of blood or … to conceive or whether to have a fetus tested for CF. Prenatal testing for CF can be done around the 11th week of …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn screening is testing performed on newborn babies to detect a wide variety … to detect a set of known genetic diseases. Typically, this testing is performed on a blood sample obtained from a heel … Newborn genetic screening is testing performed on newborn babies to detect a wide variety …
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… diseases; genomic information privacy; communication about prenatal and newborn genomic testing results; and the impact of genomics in American … of Utah in Salt Lake City are expanding on research on prenatal testing already supported by NHGRI. A grant for … in Ethical, Legal and Social Implications Research, CEER, prenatal genomic testing, newborn genomic testing, Joy Boyer, …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Outreach
15 examples of how genomics has and continues to transform our world in myriad ways.
… Genomics Impact On Society, Cancer Genomics, Genomic Testing, Enhanced Forensics, Genome Editing, Prenatal Genetic Testing, Rare Genetic Diseases …