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NHGRI Grantees Study Returning Genomic Research Results to Participants

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – One large ethical issue looming over genomics research concerns whether scientists should let participants know about disease risks and other information found in their genomes, and the National Human Genome Research Institute today said it has provided several new awards to researchers to zero in on this question.

NHGRI has awarded $5.7 million to seven researchers who will ask a range of questions about returning genomic study results and will generate data that can guide policymaker. They also will form a consortium that will review these issues.

The core questions in this area concern whether scientists should provide participants information about their risks for diseases or conditions that were discovered while their genomes were being analyzed for research purposes.

"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," NHGRI director Eric Green said in a statement. "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."

There is a split in the research community about whether or not it is ethical to return results to participants, according to NHGRI, with some believing that there is an obligation to reveal to participants genomic information if it is medically significant and interventions could be taken to prevent a disorder. But others view such sharing as unethical, particularly if participants were told that they would not be contacted, if the information relates to a disorder that has no interventions, or if there are questions about the significance of the information.

There currently is very little data for policymakers to consider in guiding their policies, beyond research that asks people hypothetically whether they want incidental findings to be returned to them.

Among the grant winners:

• Paul Appelbaum, a Columbia University professor of psychiatry, medicine, and law, will use the award to develop a menu of approaches for dealing with informed consent questions that will need to be addressed before broad policies are developed for returning results. He will seek out opinions from genomics researchers and participants and will present "realistic" options for handling policy.

• Another Columbia researcher, pediatrics Professor Wendy Chung, will look into the preferences that participants in genetic studies have regarding the return of their genomic information. She also will identify the responsibilities of various people who use genomic data, and will study what psychosocial and behavioral consequences might come from receiving such information.

• Ellen Wright Clayton, a professor of pediatrics and law at Vanderbilt University, will look for ways to guide decisions about how to handle results from children. She will examine US and international laws that may apply to minors in this area and will consider the benefits of genomic data for the minor's health, for their parents, and siblings.

• Jeremy Garrett, a research associate at Children's Mercy Bioethics Center in Kansas City, will pursue philosophical approaches to analyze whether it is morally obligatory, or permissible, for researchers studying samples in biorepositories to return individual results to participants. He also will consider how biorepositories should deal with challenges if they decide not to return individual results.

• Children's Hospital Boston's Ingrid Holm, an assistant professor of pediatrics, will study how participants' preferences can be used to guide the return of results and how preferences can be used to develop a governance structure for a genetic registry or biobank.

• Michelle Huckaby Lewis, a research scholar at the Genetics and Public Policy Center and Johns Hopkins University, will evaluate existing state policies on newborn screening and the development of biorepositories that use dried blood spots, and will identify regulatory gaps and develop recommendations for policymakers.

• University of Washington School of Medicine's Holly Tabor, an assistant professor of pediatrics, will compare the traditional approaches for returning results, such as face-to-face sessions with genetic counselors, to a new web-based tool. She will use the comparative study to develop a framework, guidelines, and policies for the return of genome sequencing results.