This study offers empirical support that some HSP professionals view genetic research as raising new and unresolved questions in the area of participant protection, compared with other kinds of human subjects research. In particular, survey respondents considered genetic studies as posing special issues in terms of informed consent, data-sharing, and shared research resources (such as biobanks or data repositories).
Anecdotal reports of challenges, inconsistencies, and delays in review of human genetic research protocols are common. However, to our knowledge, this is the first study to systematically assess the range of views held by a group of HSP professionals toward genetic research review and related issues. An important finding from this study is that, among those surveyed, opinion is divided on some key issues, including what constitutes human subjects research and the perceived likelihood of research participant identification and harm. This heterogeneity of perspectives within the HSP community is contrary to the framing that accompanies many anecdotal reports, which assumes that these professionals have one shared view and researchers another.
This study provides a starting point for understanding the views of HSP professionals about genetic research. However, this study has several limitations that affect the generalizability of the findings. The first is the low response rate of approximately 7.5%, which is conservatively estimated based on the PRIM&R membership, since the vast majority of respondents (96%) were PRIM&R members. It is possible that many of those who received invitations did not reply because their IRB or research ethics committee does not review genetics studies. However, this could not be assessed as there was not a mechanism to compare respondent characteristics with those who did not respond. In addition, it is not known to what extent PRIM&R members are representative of the community of HSP professionals.
Notwithstanding these limitations, the findings of this study identify a few opportunities for practice improvement. Genetic research is a rapidly developing field, and as the science changes, so do the regulations designed to provide oversight. As such it is especially important that HSP professionals and committees have access to needed expertise. While 70% of survey respondents indicated that they had such access, more than a quarter did not. Improving review committees' ability to obtain genetics expertise when necessary – whether through increasing the number of genetics researchers who serve on IRBs and research ethics committees, providing mechanisms for ad hoc consultation, or offering educational resources produced by scientific societies – could benefit both HSP professionals and investigators.
Parallel initiatives in the other direction could also be beneficial. For example, while about half of survey respondents reported that their IRB provides specific guidance for the completion of genetics research applications, half do not. Providing consultation to help investigators think through the possible harms to participants in genetic research – particularly harms that might not be immediately obvious, such as psychosocial, intra-familial, or community/group harms – early in the process, prior to submission of an application, may be a worthwhile investment of HSP professionals' time.
In genetic research, as in other dynamic fields of inquiry, regulatory guidance can become quickly outdated, frustrating HSPs and investigators alike. Efforts to identify shared goals and commitments (e.g., to conduct ethically sound, scientifically valuable research), foster common understanding, and develop mutual respect may help to ease the friction that can result from the challenges posed by a constantly shifting regulatory environment. Laying this groundwork is a prerequisite to the development of responsive policies and procedures.
This study highlights the need to explore several issues in greater depth, including (1) the prospect of participant re-identification based on genomic data and its implications for participant protection procedures and policy (e.g., re: compelled disclosure); (2) what should be the threshold for offering genetic research findings to research participants; (3) when researchers should be allowed to use existing samples or data, for new questions without seeking additional consent, especially if the initial study did not involve genetics; and (4) implications of all these issues for informed consent procedures. Future empirical data collections ideally should involve all stakeholders, and consensus building should be considered to help develop guidelines for dealing with the complex issues identified.
These study data, together with a parallel investigation of genetics researchers, will be used to inform a consensus development process involving PRIM&R, the American Society of Human Genetics, and the Genetic Alliance (a nonprofit health advocacy organization) in 2010. It is anticipated that this process will target key areas of disagreement or uncertainty within and between stakeholder groups. In addition, this study identified an area where further education may be needed in the HSP and researcher communities. Future education efforts aimed at HSP professionals and researchers could include information about the NIH policy for sharing data in genome-wide association studies. Furthermore, these findings offer an opportunity to provide feedback to the NIH about some HSP professionals' perceptions of the clarity of the policy.
This study demonstrates that consensus does not appear to exist within the surveyed HSP professional community about various genetic research issues. Comparison data from a parallel survey of genetic researchers will be forthcoming and, in combination with these findings, provide key points for discussion between these two professional groups. Genetic researchers, HSP professionals, and their respective professional organizations, will need to take responsibility for understanding the risks inherent in genetic research and the human subjects protections needed. Because of the rapid changes in genetic technology, approaches, and research issues in this field, guidelines will require continual updating. Through a collaborative oversight approach, both genetic researchers and HSP professionals will need to provide the necessary education, guidelines and expert guidance for one another to effectively protect human subjects in genetic research.