The return of genetic findings to donors—or to family decision makers (FDMs) in the case of deceased donors—is a relevant ethical issue for biobanks and research projects that employ whole genome sequencing. The National Institute of Health’s Genotype-Tissue Expression Project (GTEx) currently opts against sharing research results. This policy is at odds with previous data indicating that 9 out of 10 Americans prefer the return of findings, deeming this information the most important benefit of donation, regardless of treatability.1 The same study further found that 3 out of 4 Americans would be less likely to participate in a biobank that did not return results. Indeed, most individuals report a sense of ownership over the data compiled using their tissues and consider the return of results an obligation for the researcher.2
While empirical studies on FDM preferences don’t exist yet, there is evidence that they prefer to receive results; further study would therefore be valuable, as shown in this recent paper by Siminoff et al.3 The researchers examined how well FDMs understood the GTEx policy and also their opinions on return of results. To do this, two of the organ procurement organizations affiliated with GTEx invited all FDMs approached for donation (regardless of donation outcome) to take part in a semi-structured telephone interview. This resulted in 55 participants who were predominantly white, female and self-reported as Protestant, with an average age of 47 and average education of 14 years. Of these, 80% (n = 44) agreed to donate to GTEx and 20% (n = 11) did not; the results reported here were not correlated with donation outcome.
Using a true/false measure for general understanding of the GTEx return of results policy, the researchers found that only 60% of the FDMs correctly understood the policy. In terms of demographics, the individuals who accurately responded to this measure tended to be younger (45.7 versus 48.6 years), have more education (14.6 versus 13.6 years), be the donor’s spouse rather than parent (73.7% versus 27.3%) and self-report as white (69.2% versus 37.5%). However, none of these factors were statistically significant, and the latter demographics could be explained by the much higher representation of these categories (spouses and white individuals) in the study. The team found a significant association between FDMs who correctly understood the policy (55.6%) and requesters having discussed the policy with the FDM (versus merely reading the authorization form aloud) at the time of request. Logistic regression confirmed that FDMs whose requester reported discussing the policy were 4.1 times more likely to understand it.
The team found that the desire for return of genetic results was strong, particularly for information regarding both treatable and untreatable diseases as well as conditions that might affect other family members or children. The researchers report that 94.3% of participants preferred return of results for treatable diseases and 71.7% for untreatable conditions. They further quantify participant interest in results for diseases that may impact their children or family members at 84.9%. A mere 5.7% of participants reported no desire for return of results.
Overall, Siminoff et al. indicate that the frequency with which FDMs misunderstood the GTEx policy—and the correlation between better understanding and discussion with the requester—highlights the critical role effective communication strategies play in clarifying policies. This includes active, two-way conversations at the time of request with frequent check-in to verify FDM understanding. Post-donation follow-up may be beneficial as well.
The findings here regarding FDM preference for return of genetic results underscore the need for the industry to continue investigating this issue. The researchers note that an imperative to return results would be daunting in terms of resources since it would require organizational changes, including tracking biospecimens across multiple research organizations with possible concerns for the maintenance of anonymity. Further research would also need to address how to transmit results to FDMs (directly or via a health care provider or genetic counselor).
Siminoff et al. offer these findings as part of a larger conversation regarding the role that donors’ and families’ preferences play in policy decisions, particularly as whole genome sequencing gains traction in the medical and research communities.
1. Kaufman, D., et al. (2008) ‘”Subjects matter: A survey of public opinions about a large genetic cohort study,” Genetics in Medicine, 10 (pp. 831–839).
2. Townsend, A., et al. (2012) “‘I want to know what’s in Pandora’s Box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing,” American Journal of Medical Genetics Part A, 158A (pp. 2519–2525).
3. Siminoff, L.A., et al. (2015) “Family decision maker perspectives on the return of genetic results in biobanking research,” Genetics in Medicine, doi:10.1038/gim.2015.38.