When individuals are queried about whether or not they wish to receive individual research results about themselves that are discovered in the course of genomic research, the majority indicate that they prefer receiving all results, including those that are of limited validity and actionability. These preferences are in sharp contrast to the recommendations of experts who are wary of the potential for confusion and outright harm if questionable results are returned, and thus generally recommend returning only results of high validity and actionability. In this project, we will seek to resolve this tension by empirically exploring the extent to which participant preferences can reliably guide the return of individual research results, and can be incorporated into a governance structure around the return of results which minimizes harm.
We are well positioned to gather data on this issue through the Children’s Hospital Boston (CHB) “The Gene Partnership” (TGP), a novel pediatric research registry combining genetic banking, access to CHB electronic medical records, and scalable computer-based systems to ascertain preferences for return of results from the parents of research participants and, ultimately, to return those results. TGP is also unique among large-scale genomic studies because participants have consented to receive their individual research results. Recognizing that oversight is essential in order to ethically return research results to participants, we have established a panel of medical and ethical experts (the Informed Cohort Oversight Board, or ICOB) to advise TGP on which results should and should not be returned.
As we begin to return research results, we propose to build an evidence base to resolve the tension between participant preferences and expert opinion by determining if, and how, participant preferences can be incorporated into the ICOB’s oversight of return of results. Participants in our study will be randomized to one of three methods to set their preferences (“all” or “no” results, using a checklist of types of results, or an interactive educational tool and then a checklist). We will provide participants with hypothetical research results to determine whether they fully understand the implications of their stated preferences for research results to receive, and if a novel interactive educational tool helps participants set preferences that more truly reflect their actual preferences. We will also use a combination of hypothetical results and focus groups to study participants’ views on the ICOBs’ criteria for return of individual research result. For participants in whom there are actual individual results to return from whole exome sequencing we will determine the psychological and behavioral effects on TGP participants who receive actual individual research results, and if the method of setting preferences impacts on the effects.
At the end of this study, genetic research repositories will better understand the importance of incorporating participant preferences into the governance around return of research results, and the best approaches to accomplish this.