Reporting genetic results in research studies: summary and recommendations of an NHLBI working group.
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.
Bookman
Ebony B
EB
Division of Epidemiology and Clinical Applications, National Heart, Lung, and Blood Institute, Bethesda, Maryland 20892-7934, USA. bookmane@mail.nih.gov
Langehorne
Aleisha A
AA
Eckfeldt
John H
JH
Glass
Kathleen C
KC
Jarvik
Gail P
GP
Klag
Michael
M
Koski
Greg
G
Motulsky
Arno
A
Wilfond
Benjamin
B
Manolio
Teri A
TA
Fabsitz
Richard R
RR
Luepker
Russell V
RV
D035843:Biomedical Research / Q000592:standards*; D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006801:Humans; D014342:Truth Disclosure