Ethical Challenges in the Development and Review of Genetics Research

PRIM&R invited members of our Emerging Professionals Working Group (EPWG) to write about topics of relevance to their work and to the research ethics community. We hope these posts open conversations among research ethics oversight professionals at all points in their careers.

From sequencing the human genome to discovering the underlying causes of many diseases, genetic research has the ability to profoundly influence the health of individuals and populations. However, despite genomics’ exceptional capacity to contribute to our understanding of disease, the nature of genetic research introduces many ethical considerations that may not arise in other types of biomedical research.
While a longstanding concern in biomedical research, the return of results and incidental findings to research subjects is especially challenging for genetic research. Thanks to advances in genomic technology and plummeting costs of genomic sequencing, the sheer amount of genomic data generated has increased the likelihood of incidental findings. The predictive nature of genomic information further complicates the issue, as these findings may not only reveal information about current conditions, but could reveal information about a research subject’s susceptibility to a disease and future health. This type of information may be helpful to the subject if there is a proven therapy or preventative strategy, but may present additional risk if no treatment or therapy is available. This is a common question investigators and IRBs grapple with as the line between research and clinical care is blurred. Whether or not researchers should cross the bridge into clinical care by returning research results to subjects is a question that demands further examination as the field continues to grow.
Another consideration when dealing with genetic research is the implications the research may have for family members. Genetic research studies often include the participation of multiple members of a family, and this type of testing may reveal information about the family structure, thereby presenting additional risk to subjects. Even if family members do not participate in the research directly, information that may be important to them may be discovered during research. For example, family members may indirectly learn that they may be a carrier for a disease or have the potential to be effected themselves. In addition, reproductive decisions may be influenced by research findings. The duty to inform family members and the need to protect the privacy of research participants must be carefully weighed.
Meanwhile, NIH policy requires that large-scale human genetic data generated under NIH-funded research be shared with other researchers via data repositories. Many top-tier journals also require that data be shared between researchers, regardless of the funding source. Therefore protocols and consent forms for genetics research need to be carefully written with forethought regarding the future downstream use of the data. Should future research be limited to disease-specific research or open for general research use? Should the data be shared only in controlled access repositories or made available in unrestricted databases? Should the data be restricted to non-profit use only? These are just a sampling of questions IRBs and investigators need to carefully consider as they develop research protocols and ensure they are clearly communicated to research subjects.
Specialized genetics IRBs have been proposed as a way to help institutions tackle these unique considerations. Columbia University began a genetics IRB in 2016 and has seen several benefits. With a specialized focus and expert understanding of the science and ethical challenges related to genetics research, genetics-specific IRBs may develop consistent review procedures and standards for dealing with these issues, resulting in more streamlined reviews. Expert understanding of local/state laws and regulations regarding genetic research may also make a specialized IRB better able to apply these rules to research protocols than a non-specialized IRB. They may also be able to develop template consent forms and protocols that could help researchers work more efficiently through these issues and gather the information they need. As the field of genetic research continues to grow, specialized genetics IRBs may become more common as a way to address complex challenges that researchers and IRBs need to work together to address.

Molly Schleicher, MNSP, is a Review Specialist in the Office of Research Subject Protection at the Broad Institute in Cambridge, MA and a member of PRIM&R’s Emerging Professionals Working Group (EPWG).