Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group

TLDR

Prospective epidemiologic studies identify disease‑associated genetic variants that may later inform clinical diagnosis, prognosis, and treatment, and as their clinical value grows, researchers face increasing pressure to report such findings to participants or physicians even before widespread screening is justified. The study seeks to develop consensus on when and whether genetic findings should be reported to research participants. The NHLBI convened a Working Group to discuss the timing, conditions, and methods for reporting genetic information to participants. The Working Group concluded that genetic results should be reported when disease risk is significant, the condition has serious health or reproductive consequences, and effective interventions exist, and they outlined procedures and urged uniform guidelines. Published 2006 Wiley‑Liss, Inc.

Abstract

Abstract 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.