Premium
Characterizing genetic variants for clinical action
Author(s) -
Ramos Erin M.,
DinLovinescu Corina,
Berg Jonathan S.,
Brooks Lisa D.,
Duncanson Audrey,
Dunn Michael,
Good Peter,
Hubbard Tim J.P.,
Jarvik Gail P.,
O'Donnell Christopher,
Sherry Stephen T.,
Aronson Naomi,
Biesecker Leslie G.,
Blumberg Bruce,
Calonge Ned,
Colhoun Helen M.,
Epstein Robert S.,
Flicek Paul,
Gordon Erynn S.,
Green Eric D.,
Green Robert C.,
Hurles Matthew,
Kawamoto Kensaku,
Knaus William,
Ledbetter David H.,
Levy Howard P.,
Lyon Elaine,
Maglott Donna,
McLeod Howard L.,
Rahman Nazneen,
Randhawa Gurvaneet,
Wicklund Catherine,
Manolio Teri A.,
Chisholm Rex L.,
Williams Marc S.
Publication year - 2014
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31386
Subject(s) - genomics , clinical practice , dna sequencing , genetic testing , precision medicine , data science , genome , medicine , computational biology , bioinformatics , biology , genetics , computer science , family medicine , gene
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. © 2014 Wiley Periodicals, Inc.