Preferences for Return of Genetic Results among Participants in the Jackson and Framingham Heart Studies.

Joffe S1, Sellers DE2, Ekunwe L3, Antoine-Lavigne D4, McGraw S5, Levy D6, Splansky GL7.

Author information

1: Department of Medical Ethics and Health Policy, University of Pennsylvania Perelman School of Medicine & Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA.
2: Bronfenbrenner Center for Translational Research, College of Human Ecology, Cornell University, Ithaca, NY.
3: School of Public Health, Jackson Heart Study, Jackson State University, Jackson, MS.
4: Jackson Hinds Comprehensive Health Center, Jackson, MS.
5: The Hastings Center, Garrison, NY.
6: Framingham Heart Study, Framingham, MA & Population Sciences Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD.
7: Framingham Heart Study, Framingham & Boston University School of Medicine, Boston, MA.

Abstract

Background - Surveys suggest that most research participants desire access to secondary (incidental) genomic findings. However, few studies clarify whether preferences vary by the nature of the finding. Methods - We surveyed members of the Jackson Heart Study (JHS, n=960), the Framingham Heart Study (FHS, n=955), and African-American members of the FHS Omni cohort (n=160) who had consented to genomic studies. Each factorial survey included 3 vignettes, randomly selected from a set of 64, that described a secondary genomic result. Vignettes varied systematically by 5 factors identified by expert panels as salient: phenotype severity, actionability (preventability), reproductive significance, and relative and absolute risk of the phenotype. Respondents indicated whether they would want to receive the result. Data were analyzed separately by cohort using generalized linear mixed models. Results - Response rates ranged from 67-73%. Across vignettes, 88-92% of respondents would definitely or probably want to learn the result. In multivariate analyses among JHS respondents, desire for results was associated with positive attitudes towards genetic testing, lower education, higher subjective numeracy, and younger age, but not with any of the 5 factors. Among FHS respondents, desire for results was associated with higher absolute risk, preventability, reproductive risk, and positive attitudes towards genetic testing. Among FHS Omni respondents, desire for results was associated with positive attitudes towards genetic testing and younger age. Conclusions - Most genetic research participants desire return of secondary genetic results. Several factors identified by expert panels as salient are associated with preferences among FHS, but not JHS or FHS Omni, participants.