This study offers a snapshot of researchers’ views about IRB review and participant protections in human genetic research. Overall, respondents reported fewer issues with the overall IRB application process compared with the IRB review process. Most respondents believed that IRBs should review genetic research applications the same way they review other biomedical research applications. These results suggest that, in the ongoing debate about genetic exceptionalism [17
], most investigators working in the field may consider genetic information to be one more kind of health information, deserving of the same level of protection as other such data.
Some of our findings are consistent with the anecdotal accounts from colleagues that provided the impetus for this project. While some respondents reported that IRB review has had positive effects on their work (including helping investigators plan for future research), many more pointed to negative effects. Of note, more than half reported that review had resulted in excessive delay of a project, and 35% agreed that IRB review takes longer for projects with a genetic component. Although our results report respondents’ perceptions, rather than actual comparative data on review duration for genetic vs. nongenetic applications, timeliness of review appears to be a significant concern for respondents. About 20% reported that lengthy review had threatened collaborations or relations with research partners, which is consistent with published accounts of difficulties associated with managing participant protections in large multi-center consortia [20
In adjusted analyses, respondents who had served on an IRB reported significantly fewer negative consequences of IRB review than their colleagues who had not served on an IRB, possibly reflecting a greater familiarity with the IRB review process. Occupational focus (clinical vs. research) was only of borderline significance. These results, particularly those relating to prior service on an IRB, highlight potential opportunities for more focused work to identify the reason for these differences.
Our findings demonstrate substantial variation in respondents’ views about when reconsent is ethically necessary. Although there was strong agreement that reconsent is appropriate when the proposed use is clearly outside the bounds of the original consent language (i.e. to investigate an unrelated condition or to add genetic measures to a study that did not include them), opinions were almost evenly divided about cases in which the new use could be construed to be within the spirit of the original consent, such as when the researcher wants to investigate a different but related condition, to investigate a different gene or genetic variant or to share participants’ de-identified sample or data with an investigator at another institution. Whether these differences in opinion reflect respondents’ personal convictions, variations in local practice and IRB policy, or both, these results highlight an important area for further investigation, education and consensus development among genetic researchers.
Questions about the need to reconsent also depend on the wording of the original consent form, as indicated by several respondents to the online survey. Ninety-three percent of researchers participating in this survey indicated that guidance from their IRB in writing a consent form for genetic studies is important, while only 1.5% indicated that this is not the role of the IRB. When asked about the use of a broad consent form that anticipates future genetic research studies (e.g. such as establishing a biobank and/or studying additional diseases), about half the respondents indicated that this practice is acceptable to their IRB. General agreement about the appropriate scope and content of informed consent for genomic research may help to reduce tensions between researchers and their IRBs, as the consent form can impact a number of areas identified in this survey as requiring considerable discussion with their IRB. A number of groups have proposed language for model consent forms [24
], but it is not known to what extent researchers use these resources. Perhaps further exploration and discussion of the values that researchers and their IRBs hold regarding reconsent in various scenarios can take place within the appropriate professional organizations and in local and national discussions among stakeholders. Finally, approaches to reduce some of the administrative burdens associated with preparing an application for IRB review should also be considered.
Nearly all investigators (99%) agreed that the role and functions of the IRB should include protection of human subjects. However, it is interesting to note that about half the respondents felt that harms resulting from genetic studies are very unlikely, particularly in the possible identification of subjects from coded data and whether the subject would be harmed if identified (49 and 53%, respectively).
Finally, the survey results presented here indicate that some respondents believe that their or their institution's ability to recruit new investigators was negatively affected by the IRB review process. Although the numbers were small, these findings suggest that communication between researchers and their IRBs can be improved at some institutions. Finding solutions that will facilitate genetic research, while at the same time ensuring protection of human subjects, will be essential.
There are several limitations of the study, including the generalizability of these findings to the broader genetic research community. While the response rate is estimated to be 7.5% (372 out of 4,908), it is difficult to obtain a precise estimate of the denominator for 2 reasons: first, not all members of ASHG are eligible to participate in the study as they do not conduct human genetics research, and secondly, it is not known how many ASHG members forwarded the survey to colleagues. Further, among those that did respond, it is possible, even likely, that those people choosing to respond to the survey were different in terms of their experience with IRBs than the nonrespondents. In spite of these limitations, the information provided by this survey is important in documenting the range and frequency of concerns among this group of researchers as well as the impact and implications of IRB review on genetic research.
In conclusion, the results from this study document the perspectives of researchers in human genetics and point to several opportunities for improvement in the human subjects review of genetic studies. In particular, we have identified specific areas where there is a lack of agreement among researchers or where guidance is needed. The findings from this study offer a useful starting point for human genetic researchers and their professional organizations to further discuss and address these often challenging and controversial issues. Engaging key stakeholders in this process can serve as a catalyst for changing guidelines within organizations with the goal of informing a set of policies around these issues.