IRB Chairs' Perspectives on Genotype-driven Research Recruitment

Laura M. Beskow, MPH, PhD; Emily E. Namey, MA; Patrick R. Miller, PhD; Daniel K. Nelson, MS; CIP, Alexandra Cooper, PhD

Disclosures

IRB. 2012;34(3):1-10. 

In This Article

Abstract and Introduction

Introduction

Genotype-driven research recruitment is a potentially powerful tool for studying the functional significance of human genetic variation.[1] With this approach, investigators use an existing study population for which genetic analyses have been conducted to identify individuals who possess a gene variant of interest. Those individuals are then invited to participate in further research involving in-depth phenotyping to better understand the relationship between observable traits and that gene variant.[2] This kind of "recruitment by genotype" eliminates the time-consuming and expensive step of screening new populations to find subjects who have the variant of interest.[3] Such recruitment could be undertaken when investigators want to recontact selected participants in their own studies for further research[4] or in the context of biobanks that maintain a link between stored biospecimens and data and identifying information.[5] Conceivably, individuals who have particular gene variants could also be identified by searching across multiple data sets stored in centralized databases, such as dbGaP. This approach could maximize the utility of the massive amounts of data generated in genome-wide association studies, only a tiny fraction of which is related to the disease or condition originally under study.[6]

Genotype-driven recruitment, however, presents ethical challenges. Concerns about the use and disclosure of genetic information—more commonly associated with participation in genetic research—are shifted to the recruitment phase when genetic information that is generated in one study is used as the basis for identifying and recontacting participants about further research.[7] A central issue is the disclosure of individual genetic research results from the first study as part of the recruitment process for the second. There is a fundamental tension between disclosing genetic research results that may be unwanted and/or preliminary and easily misinterpreted, and leaving prospective participants uninformed about the purposes of the second study and why they are eligible to participate.[8]

Because of the vital role institutional review boards (IRBs) play in reviewing and approving approaches to recruiting individuals to participate in research, IRB chairs are one of the stakeholder groups whose input is essential to the development of guidelines on ethical approaches to genotype-driven recruitment. We conducted an online survey to gather data on the opinions, experiences, and concerns of IRB chairs at U.S. institutions that received federal funding for genetics-related research between 2000 and 2010. Our survey focused on whether and under what conditions 1) recontact for the purpose of genetic research recruitment should be allowed, and 2) individual genetic research results from the first study should be disclosed as part of the recruitment process for a second study. In general, our survey included broad questions to establish baseline opinions on these topics, followed by more nuanced questions concerning contextual factors that could potentially modify such opinions.

processing....