"These new research projects will help us understand how people are reacting to real information about their genomes, which is an increasingly pressing issue as more scientists incorporate genome sequencing into their research," said Eric D. Green, M.D., Ph.D., NHGRI director. "We're putting the best minds together to try to develop best practices on this issue by establishing a consortium of all the funded researchers."
Researchers have widely varying opinions on the "return of results" issue. Some believe that they have an ethical or legal obligation to reveal to study participants their genomic information — especially if it is medically significant and interventions can prevent or reduce the risk of a disorder. Others consider sharing such information unethical — especially if the research participant was told he or she would not be re-contacted, if the information relates to a disorder for which there is no known intervention, or if the precise medical significance of the information is unclear. Researchers on both sides of the question must also consider regulatory and policy issues related to bringing genome sequencing to clinical applications.
Until now, researchers have had very little data to guide their decisions, except for research that asks people hypothetically whether they want incidental findings returned to them. An incidental finding is a health finding about a research participant that is discovered in the course of conducting research but is not the central aim of the study. What people want in the abstract may be very different from what they want in an actual genomic research setting.
These studies will shed light on real-life applications of returning genomic results to study participants as well as some of the legal and ethical issues surrounding returning research results. Researchers are receiving funding for the following projects:
Paul S. Appelbaum, M.D., professor of psychiatry, Medicine & Law, and Director, Division of Law, Ethics, and Psychiatry, Department of Psychiatry, Columbia University, New York, N.Y.
Dr. Appelbaum will develop a menu of potential approaches for dealing with the challenges of informed consent that must be addressed before widespread efforts to return genomic research results are put into place. He will obtain the perspectives of genomic investigators and research participants, their suggestions for addressing them, and their thoughts about the various options. He will also analyze the normative issues involved and identify realistic options for future researchers.
Wendy K. Chung, M.D., Ph.D., assistant professor of pediatrics, Department of Pharmacology, Columbia University, New York, N.Y.
Dr. Chung will investigate the preferences of participants who have enrolled in genomic research studies with respect to getting back incidental genetic results, as well as the potential psychosocial and behavioral consequences of receiving this information. Her findings will provide a more complete picture of the possible benefits and burdens of returning incidental research results to participants and identify the responsibilities of various users of genomic data depending on their degree of access to and connection with research participants. She will analyze a range of possible incidental findings that could be reported and explore researchers' varying responsibilities to report these results based upon their clinical and psychosocial implications.
Ellen Wright Clayton, M.D., J.D., professor of pediatrics and law, Vanderbilt University, Nashville, Tenn.
Dr. Clayton will identify criteria to guide decisions about returning individual research results to children who participate in genomic research. She will examine U.S. law and international guidelines about decision making for and by minors as the foundation for her study. She will analyze what weight should be given to various benefits potentially associated with returning pediatric research results. These range from immediate benefit to the minor's health or for the minor's reproductive decision making later in life, to benefits to parents, the minor's siblings, or the family as a whole.
Jeremy R. Garrett, Ph.D., research associate, Children's Mercy Bioethics Center, Kansas City.
Dr. Garrett will conduct philosophical research to analyze critically the claim that it is morally obligatory, or at least morally permissible, for genomic researchers who study samples in biorepositories to return individual research results participants He will also identify and consider potential solutions for any significant practical challenges that may be encountered if a biorepository decides not to return individual research results.
Ingrid A. Holm, M.D., M.P.H., assistant professor of pediatrics, Children's Hospital Boston.
Dr. Holm will explore the extent to which research participants' preferences can reliably guide the return of individual genomic research results and how participants' preferences regarding the return of results can be incorporated into a governance structure for a genetic research registry or biobank. At the end of this study, genetic research repositories should be better able to understand the importance of incorporating participant preferences into their governance practices around return of research results and the best approaches to do this.
Michelle Huckaby Lewis, M.D., J.D., research scholar, Johns Hopkins University, Berman Institute of Bioethics, Baltimore and Genetics and Public Policy Center, Washington, D.C.
Dr. Lewis will conduct research to develop the normative and legal framework that will be necessary to consider if newborn screening programs are to be expanded and if efforts are to be made to offer to return results to parents for research conducted with dried blood spots. She will evaluate existing state policies on newborn screening and the development of biorepositories using dried blood samples, identify gaps in existing regulations, and develop recommendations for policymakers.
Holly K. Tabor, Ph.D., assistant professor of pediatrics, Division of Bioethics, University of Washington School of Medicine, Seattle.
Dr. Tabor will work with experts in clinical genetics, genomics, genetic counseling and biomedical informatics to compare the use of traditional approaches for returning research results (using face-to-face sessions with genetic counselors) to an innovative web-based tool. Based on the study findings, she will develop a framework, guidelines and proposed policies for returning genome sequencing results to research participants.
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Last Reviewed: May 11, 2012