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ClinGen — The Clinical Genome Resource

2015; Massachusetts Medical Society; Volume: 372; Issue: 23 Linguagem: Inglês

10.1056/nejmsr1406261

1533-4406

Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks, Carlos D. Bustamante, James P. Evans, Melissa Landrum, David H. Ledbetter, Donna Maglott, Christa Lese Martin, Robert L. Nussbaum, Sharon E. Plon, Erin M. Ramos, Stephen T. Sherry, Michael S. Watson,

Genomics and Rare Diseases

Next generation sequencing (NGS) 1 comprises a collection of new technologies that allow rapid sequencing of large segments of an individual's DNA and even an individual's entire genome.Reliable and accurate NGS technologies promise to accelerate "personalized" or "precision" medicine, the tailoring of medical treatment to the individual characteristics of each patient.Unlike other laboratory tests that typically detect a single or a defined number of substances to diagnose a limited set of conditions, a single NGS test can identify thousands --even millions -of genetic variants and the results of that test could be used to diagnose or predict an individual's risk of developing many different conditions or diseases.NGS technologies are used extensively in research and are rapidly entering clinical practice.The capabilities of NGS tests and their rapid evolution pose challenges --as well as opportunities -for FDA in carrying out its mission to both protect and promote public health.FDA is committed to drawing on the knowledge of the scientific community to help inform this oversight.Appropriately-tailored oversight should foster innovation in NGS technology, allow the public to have timely access to newly developed tests, and ensure that those tests are accurate, reliable and clinically relevant.