Reporting genetic results in research studies: Summary and recommendations of an NHLBI Working Group

Ebony B. Bookman, Aleisha A. Langehorne, John H. Eckfeldt, Kathleen C. Glass, Gail P. Jarvik, Michael Klag, Greg Koski, Arno Motulsky, Benjamin Wilfond, Teri A. Manolio, Richard R. Fabsitz, Russell V. Luepker

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1033-1040
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume140 A
Issue number10
DOIs
StatePublished - May 15 2006

Keywords

  • Genetic testing
  • Reporting research results
  • Research results

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Reporting genetic results in research studies: Summary and recommendations of an NHLBI Working Group'. Together they form a unique fingerprint.

  • Cite this

    Bookman, E. B., Langehorne, A. A., Eckfeldt, J. H., Glass, K. C., Jarvik, G. P., Klag, M., Koski, G., Motulsky, A., Wilfond, B., Manolio, T. A., Fabsitz, R. R., & Luepker, R. V. (2006). Reporting genetic results in research studies: Summary and recommendations of an NHLBI Working Group. American Journal of Medical Genetics, 140 A(10), 1033-1040. https://doi.org/10.1002/ajmg.a.31195