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
Division of Epidemiology and Clinical Applications, National Heart, Lung, and Blood Institute, Bethesda, Maryland 20892-7934, USA.
Am J Med Genet A. 2006 May 15;140(10):1033-40. doi: 10.1002/ajmg.a.31195.
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.
前瞻性流行病学研究有助于识别与疾病、健康风险和生理特征相关的基因变异。这些基因变异最终可能会用于临床诊断、预后评估和治疗。随着此类信息潜在临床价值的证据不断积累，研究面临着越来越大的压力，即便在尚无足够证据支持对无症状人群进行广泛筛查之前，也要将这些结果报告给研究参与者或他们的医生。因此，有必要就基因研究结果是否以及何时应报告给研究参与者开始形成共识。美国国立心肺血液研究所（NHLBI）召集了一个研究报告基因结果工作组，以讨论是否、何时以及如何向研究参与者报告基因信息。工作组得出结论，当疾病的相关风险显著、疾病具有重要的健康影响（如过早死亡或严重发病）或具有重大生殖影响，且有经过验证的治疗或预防干预措施时，基因检测结果应报告给研究参与者。最后，工作组推荐了报告基因研究结果的程序，并鼓励加大力度为此类活动制定统一指南。
