Experiences and perspectives on the return of secondary findings among genetic epidemiologists

Genet Med. 2019 Jul;21(7):1541-1547. doi: 10.1038/s41436-018-0369-x. Epub 2018 Nov 23.

Abstract

Purpose: While there has been a recent increase in scholarship around developing policies for the return of results from genetic sequencing, it is not clear whether these approaches are appropriate for genetic epidemiology studies. Because genetic epidemiological research increasingly utilizes genome sequencing methods, particularly in large data sets where researchers did not directly ascertain the subjects, it is important to understand researchers' perspectives on the return of results.

Methods: We conducted an online survey of members of the International Genetic Epidemiology Society to document the diversity of experiences and impressions regarding return of results. The survey contained both closed and open-ended questions.

Results: Among our respondents who enroll their own research participants, only 21% return secondary findings. Most respondents do not search their sequence data for clinically actionable findings not associated with their disease of interest. Many feel that genetic epidemiologists have a unique perspective on the return of results and that research studies should not follow the same procedures as clinical sequencing studies.

Conclusion: Precision medicine initiatives that rely on both clinical and "big data" genomic research should account for variation in researcher perspectives and study design limitations when developing policies and standard practices regarding the return of results.

Keywords: genetic epidemiology; incidental findings; research ethics; return of results.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Disclosure
  • Genetic Research*
  • Humans
  • Incidental Findings*
  • Molecular Epidemiology / trends*
  • Research Personnel*
  • Sequence Analysis, DNA
  • Surveys and Questionnaires