Attitudes of Researchers to the Return of Incidental and Targeted Genomic Findings Obtained in a Research Setting to Participants

The use of genomic research has exploded in recent years. Various guidelines recommend disclosure of significant, clinically validated findings to participants. Continued debate in this area has led to calls for stakeholder involvement to inform policy. In particular, the attitudes of genomics researchers are salient yet relatively unexplored with respect to how the sharing of both targeted and incidental findings should be accomplished.

All 107 researchers affiliated with two large-scale Genome Canada projects [Canadian Pediatric Cancer Genome Consortium (CPCGC) and the Finding of Rare Genes Canada Consortium (FORGE)] were surveyed using a mailed, validated 32-item questionnaire that had been pilot tested with genomics researchers. The survey was designed to cover a wide range of topics including attitudes of researchers to the return of incidental and targeted research results, the need for genetic counselling, responsibilities to participants over time, to child participants and to siblings of participants, and institutional ethics review. Two reminders were sent to non-respondents. Data were analyzed with descriptive statistics.

74/107 (69%) responded. Most were between 41–55 yr of age (n=40, 54%) and had their most senior training inNorth America (n=67, 91%). The majority were experienced researchers (n=58, 78%) and felt comfortable in discussing genomic results with participants (n= 66, 89%). Respondents did not feel a strong responsibility to look for meaningful incidental results in the genomic data set they created (n=27, 37%). However, once potentially significant results were identified, researchers indicated that participants had a strong or very strong right to receive analytically validated genomic results irrespective of whether these results were incidental findings (n= 50, 68%) or primary targets of the research (n= 64, 87%). Most indicated that results with clinical utility that were actionable should be offered to participants (n=54, 73%) although some indicated that research results should not be returned under any circumstances (n=6, 8%). The majority felt that a research result should be confirmed in a clinical lab prior to return to participants (n=51, 69%). Most indicated that genetic counselling should be provided either almost always or frequently prior to genomic research participation (n=48, 64%). Respondents indicated that siblings of genomic research participants had a strong or very strong right to be informed of results (n=46, 62%), and this was especially true if an intervention to ameliorate the identified condition is feasible (n=56, 76%). A minority of researchers felt personal responsibility to ensure genomic research results obtained on a child of potential clinical utility were eventually communicated to him/her when the child became an adult (n=10, 14%). A slim majority felt the parents or health care provider should be responsible (n=38, 51%). Some researchers reported encountering incidental findings of clinical utility (n=25, 34%) and had offered them to participants. However, the minority reported that their institutional ethics review boards either always (n=10, 14%) or sometimes (n=24, 32%) required an offer of results. Only 16 (22%) indicated that their ethics board had a detailed process on how to do so.

Researchers in general support the offer of return of targeted and incidental genomic research results to participants. A minority strongly oppose such action. There is typically a high degree of support for the offer of genomic research findings to siblings, especially if actionable. Given the new developments in genomics and resulting incidental findings, researchers describe little specific guidance about the process that should be followed in returning results to participants. Greater policy guidance would be of assistance in providing a consistent approach to the offer of incidental or targeted genomic research results.

Funded by Genome Canada and the Canadian Institutes of Health Research.

No relevant conflicts of interest to declare.