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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.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… while promoting the use of genomic approaches for clinical diagnostics and engaging basic researchers to identify the …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… already enabling medical researchers to develop improved diagnostics, more effective therapeutic strategies, …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… appeared February 5, 2016, in The Journal of Molecular Diagnostics . "Finding a distinctive methylation-based …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… Gert Matthijs, Ph.D., head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics at the …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.