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Characterizinggenetic variants forclinical action Erin M. RamosCorina Din‐LovinescuJonathan S. Berg2014 год

Characterizing genetic variants for clinical action
статья из журнала

Полный текстСтраница публикацииПубликация в OpenAlex
Аннотация: 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.
Год издания: 2014
Авторы: Erin M. Ramos, Corina Din‐Lovinescu, Jonathan S. Berg, Lisa Brooks, Audrey Duncanson, Michael Dunn, Peter J. Good, Tim Hubbard, Gail P. Jarvik, Christopher J. 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. Green, Robert C. Green, Matthew E. Hurles, Kensaku Kawamoto, William A. 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
Издательство: Wiley
Источник: American Journal of Medical Genetics Part C Seminars in Medical Genetics
Ключевые слова: Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities
Другие ссылки: American Journal of Medical Genetics Part C Seminars in Medical Genetics (HTML)
Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
PubMed Central (HTML)
Carolina Digital Repository (University of North Carolina at Chapel Hill) (HTML)
PubMed (HTML)