Characterizing genetic variants for clinical action

Erin M. Ramos (Lead / Corresponding author), Corina Din-Lovinescu, Jonathan S. Berg, Lisa D. Brooks, Audrey Duncanson, Michael Dunn, Peter Good, Tim J. P. Hubbard, Gail P. Jarvik, Christopher O'Donnell, Stephen T. Sherry, Naomi Aronson, Leslie G. Biesecker, Bruce Blumberg, Ned Calonge, Helen M. Colhoun, Robert S. Epstein, Paul Flicek, Erynn S. Gordon, Eric D. GreenRobert C. Green, Matthew Hurles, Kensaku Kawamoto, William Knaus, David H. Ledbetter, Howard P. Levy, Elaine Lyon, Donna Maglott, Howard L. McLeod, Nazneen Rahman, Gurvaneet Randhawa, Catherine Wicklund, Teri A. Manolio, Rex L. Chisholm, Marc S. Williams

    Research output: Contribution to journalArticlepeer-review

    47 Citations (Scopus)


    Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the most significant are limited evidence about the clinical implications of the variants and a lack of a comprehensive knowledge base that captures genetic variants, their phenotypic associations, and other pertinent phenotypic information that is openly accessible to clinical groups attempting to interpret sequencing data. As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability, and making this information available for clinical use. The National Human Genome Research Institute (NHGRI) and the Wellcome Trust thus convened a workshop to consider the processes and resources needed to: (1) identify clinically valid genetic variants; (2) decide whether they are actionable and what the action should be; and (3) provide this information for clinical use. This commentary outlines the key discussion points and recommendations from the workshop.
    Original languageEnglish
    Pages (from-to)93-104
    Number of pages12
    JournalAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
    Issue number1
    Publication statusPublished - Mar 2014


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