ACMG Says “ClinGen” Knowledge Base Will Be Critical Resource for Interpretation of Genome-ScaleTesting to Improve Patient Care

Tremendous advances have been made in decoding the human genome in recent years but critical questions remain regarding what these variants mean and how they can be applied in clinical practice. In a comprehensive, open-access, special report published online on May 27, 2015 in The New England Journal of Medicine, and titled "ClinGen: The Clinical Genome Resource," a consortium including investigators from the American College of Medical Genetics and Genomics (ACMG) provide a detailed overview of ClinGen, an NIH-supported program to evaluate the clinical relevance of genetic variants for use in precision medicine and to increase the understanding of their role in human health and disease. ACMG Executive Director Michael S. Watson, Ph.D., FACMG, said, "With ClinGen and ClinVar now in place to manage the big data problem inherent in medical genomics, we are well positioned to enable extensive data sharing among laboratories and clinician. This is expected to dramatically improve our understanding of the clinical implications of genetic variation and its role in improving patient and population health." ClinGen's mission is to build a genomic knowledge base to improve patient care. Genetic clinicians and medical researchers hope to use information about genetic variants in a variety of ways including making better predictions about an individual’s risk of disease, to developing tailored treatments and to improve clinical decision-making.
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