Recommendations for ethical approaches to genotype-driven research recruitment

Abstract

Recruiting research participants based on genetic information generated about them in a prior study is a potentially powerful way to study the functional significance of human genetic variation. However, it also presents significant ethical challenges that, to date, have received only minimal consideration. We convened a multi-disciplinary workshop to discuss key issues relevant to the conduct and oversight of genotype-driven recruitment and to translate those considerations into practical policy recommendations. Workshop participants were invited from around the US, and included genomic researchers and study coordinators, research participants, clinicians, bioethics scholars, experts in human research protections, and government representatives. Discussion was directed by experienced facilitators and informed by empirical data collected in a national survey of IRB chairs and in-depth interviews with research participants in studies where genotype-driven recontact occurred. A high degree of consensus was attained on the resulting seven recommendations, which cover informed consent disclosures and choices, the process for how and by whom participants are recontacted, the disclosure of individual genetic research results, and the importance of tailoring approaches based on specific contextual factors. These recommendations are intended to represent a balanced approach—protecting research participants, yet avoiding overly restrictive policies that hinder advancement on important scientific questions.

Appendices

Appendix 1

Workshop participants (in addition to named authors): Georgia M. Alexander⁺, Research Participant; John H. Alexander, MD, MHS⁺, Duke Clinical Research Institute; Tracy Brazg, MSW, MPH*^,+, Seattle Children’s Research Institute; Goldie S. Byrd, PhD⁺, North Carolina Agricultural and State University; R. Jean Cadigan, PhD*^,+, University of North Carolina at Chapel Hill; Patricia Chulada, PhD, MHS⁺, National Institute of Environmental Health Sciences; Ellen Wright Clayton, MD, JD⁺, Vanderbilt University; Alexandra Cooper, PhD*^,+, Duke Social Science Research Institute; Julia Crouch, MPH*^,+, Seattle Children’s Research Institute; Lauren A. Dame, JD, MPH⁺, Duke Institute for Genome Sciences & Policy; Douglas S. Diekema, MD, MPH⁺, Seattle Children’s Research Institute; David G. Forster, JD, MA, CIP+, Western Institutional Review Board; Debbie Frisbee⁺, Research Participant; David B. Goldstein, PhD, Duke University; Gail E. Henderson, PhD*^,+, University of North Carolina at Chapel Hill; Sherri Holmes, Research Participant; Julie Kaneshiro, MA^{^}, U.S. Department of Health and Human Services; John M. Kessler, PharmD⁺, Duke University; Clara Lajonchere, PhD⁺, Autism Speaks; Kristen N. Linney, RN⁺, Duke University; Sean McGuire, MD, PhD⁺, Baylor College of Medicine; Amy L. McGuire, JD, PhD⁺, Baylor College of Medicine; Marsha Michie, PhD*^,+, University of North Carolina at Chapel Hill; Janet Miller, JD, PhD⁺, Autism Genetic Resource Exchange; P. Pearl O’Rourke, MD⁺, Partners HealthCare; Jeffrey Peppercorn, MD, MPH⁺, Duke University Medical Center; Rodney A. Radtke, MD⁺, Duke University Medical Center; Laura Lyman Rodriguez, PhD⁺, National Human Genome Research Institute; Monica Samsky⁺, Research Participant; Maureen E. Smith, MS, CGC⁺, Northwestern University; Holly Tabor, PhD*^,+, Seattle Children’s Research Institute

* Member of research team for RC1HG005787, “Ethical Approaches to Genotype-Driven Research Recruitment”

⁺Affirmed general agreement with these recommendations (in personal capacity, not as institutional representative)

^{^}Constrained from formally expressing an opinion due to governmental position.

Appendix 2: Sample consent language about contact for future research

The following was adapted from model consent language for biobanking from the Electronic Medical Records and Genomics (eMERGE) Network (available at http://www.genome.gov/27526660):

Additional Research

We will not notify you every time your sample and information are used. However, some researchers might apply to do a study for which they need to contact you. For example, they might ask you to give another sample or to fill out a survey. Or they might ask you to do a phone interview or come into be seen by a researcher or doctor.

• Potential addition specific to genotype-driven recruitment (which may be appropriate when such recruitment is a planned feature of the project): Sometimes researchers might contact you about being in more research because of something they learned about your DNA when studying your sample.

• Alternate addition alluding to genotype-driven recruitment: Sometimes researchers might contact you about being in more research because of something they learned when studying your sample and information.

Readability characteristics (vary depending on which bulleted sentence is used): Flesch–Kincaid grade level 8.3–8.5; Flesch–Kincaid reading ease 65–67; passive sentences 20%.