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Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group
Author(s) -
Bookman Ebony B.,
Langehorne Aleisha A.,
Eckfeldt John H.,
Glass Kathleen C.,
Jarvik Gail P.,
Klag Michael,
Koski Greg,
Motulsky Arno,
Wilfond Benjamin,
Manolio Teri A.,
Fabsitz Richard R.,
Luepker Russell V.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31195
Subject(s) - medicine , asymptomatic , disease , genetic testing , family medicine , psychological intervention , pathology , psychiatry
Prospective epidemiologic studies aid in identifying genetic variants associated with diseases, health risks, and physiologic traits. These genetic variants may eventually be measured clinically for purposes of diagnosis, prognosis, and treatment. As evidence of the potential clinical value of such information accrues, research studies face growing pressure to report these results to study participants or their physicians, even before sufficient evidence is available to support widespread screening of asymptomatic persons. There is thus a need to begin to develop consensus on whether and when genetic findings should be reported to participants in research studies. The National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group on Reporting Genetic Results in Research Studies to discuss if, when, and how genetic information should be reported to study participants. The Working Group concluded that genetic test results should be reported to study participants when the associated risk for the disease is significant; the disease has important health implications such as premature death or substantial morbidity or has significant reproductive implications; and proven therapeutic or preventive interventions are available. Finally, the Working Group recommended procedures for reporting genetic research results and encouraged increased efforts to create uniform guidelines for this activity. Published 2006 Wiley‐Liss, Inc.