Characterizing genetic variants for clinical action

Erin M. Ramos*, 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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

46 Scopus citations


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 (US)
Pages (from-to)93-104
Number of pages12
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number1
StatePublished - Mar 2014


  • Clinical actionability
  • DNA sequencing
  • Database
  • Electronic health records (EHR)
  • Genomic medicine
  • Pharmacogenomics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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