Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings

Abstract

Purpose Comprehensive genomic analysis including exome and genome sequencing is increasingly being utilized in research studies, leading to the generation of incidental genetic findings. It is unclear how researchers plan to deal with incidental genetic findings. Methods We conducted a survey of the practices and attitudes of 234 members of the US genetic research community and performed qualitative semistructured interviews with 28 genomic researchers to understand their views and experiences with incidental genetic research findings. Results We found that 12% of the researchers had returned incidental genetic findings, and an additional 28% planned to do so. A large majority of researchers (95%) believe that incidental findings for highly penetrant disorders with immediate medical implications should be offered to research participants. However, there was no consensus on returning incidental results for other conditions varying in penetrance and medical actionability. Researchers raised concerns that the return of incidental findings would impose significant burdens on research and could potentially have deleterious effects on research participants if not performed well. Researchers identified assistance needed to enable effective, accurate return of incidental findings. Conclusion The majority of the researchers believe that research participants should have the option to receive at least some incidental genetic research results.

Stability of Attitudes to the Ethical Issues Raised by the Return of Incidental Genomic Research Findings in Children: A Follow-Up Study

“…The wish to be involved in the decision-making about the return of findings suggests a high engagement in this area. This would parallel other studies conducted at single time points that also describe a high interest in the return of results, an interest often supported by researchers and genetics professionals [24,25,26,27,28,29]. …”

Research participants in NGS studies want to know about incidental findings

“…9 ASHG recommends that a list of genes should be investigated and that constitutional variants found in these genes should be reported back. 9 The recommendations have been followed by an intense debate 3,4,[10][11][12] IFs have been discussed in a research setting; 7,[13][14][15][16] both IFs in general, 7 whether one should disclose IFs or not 14 and IFs from a researcher's perspective. 15,16 Klitzman et al 16 interviewed researchers, and the majority believed that research participants should have the option to receive at least some incidental genetic research results.…”

Return of individual genomic research results: what do consent forms tell participants?

“…[5][6][7][8] Studies suggest that participants generally want to receive individual results, [9][10][11][12][13] and that other stakeholders, including Research Ethics Committee (REC) members and researchers, generally support the return of at least some research results. [14][15][16] Researchers have also found support for returning findings from secondary analysis. 17 Current guidelines endorse the return of results that are valid, clinically significant, and provide some measure of benefit to the participant.…”