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ELSI Panel Addresses Genomics Consent and Privacy at CSHL

COLD SPRING HARBOR, NY (GenomeWeb News) – Data sharing, identifiability, informed consent and related issues are intimately linked to community resource genomics projects — but there is no one size fits all solution for addressing these problems in genomics research, attendees heard at a Biology of Genomes panel yesterday afternoon.

The Ethical, Legal, and Social Issues, or ELSI, panel was moderated by Laura Lyman Rodriguez, acting director of the National Human Genome Research Institute's Office of Policy, Communications, and Education and senior advisor to the director for research policy. Also participating in the panel were Susan Wallace, a visiting researcher at the University of Montreal's Center for Policy Research; Barbara Koenig, an anthropologist who studies biomedicine at the Mayo Clinic; and University of Toulouse researcher Ann Cambon-Thomsen.

The panel was convened with an eye toward addressing ethical and social issues related to large community resource genomics projects, which are designed to provide tools and/or data for the scientific community. Such issues have been debated for some time as large-scale genomics efforts have become more common.

For instance, some have expressed concern that even de-identified genetic data could be linked to study participants. Last August, the National Institutes of Health pulled their GWAS data from public databases in response to research suggesting that it might be possible to identify an individual from pooled genetic data. There has also been a great deal of discussion about what information participants should get back from such studies as well as researchers' responsibility for informing subjects about incidental findings.

Rodriguez noted that genomics research has a strong tradition of data sharing and communication that has been increasingly bumping up against human subjects research as researchers try to apply the knowledge gleaned from the human genome.

"We're seeing an increased tension in this area," she said.

Even so, if researchers are going to achieve the goal of "genomics research through human subject research," Rodriguez said, it will be necessary to consider ways to handle areas such as identifiability, informed consent, confidentiality, privacy, community engagement, and governance.

Panelist Susan Wallace provided an example of the process used to develop data storing and consent guidelines from an international perspective, describing efforts by the International Cancer Genome Consortium's Consent and Data Access Policies International Working Group to come up with core bioethical elements for ICGC.

Overall, she explained, the guidelines were designed to cover key ethics and consent issues while recognizing that each locale will likely have distinct cultural, ethical, and legal issues. Wallace also noted that much of the discussion focused on if — and how — research results should be returned to participants.

Meanwhile, Barbara Koenig, an anthropologist at the Mayo Clinic who studies biomedicine, discussed a range of ideas that have been proffered by ethics experts with respect to informed consent, the roles of the individual versus group in genomic research, privacy, and the interplay between identifiability and researcher responsibility for returning results to subjects.

Cambon-Thomsen, who also is research director at France's National Centre for Scientific Research, described the ethical, legal, and social issues of genomics from her experience in France and the European Union. She explained that genome-wide association studies and whole genome studies are challenging the existing framework used to guide human subject research, arguing that there is a need for principles, instruments, tools, and governance that specifically meet the challenges of genomics research.

Still, the panelists concluded that there is no framework that can be easily applied to all genomics research — or a common governing body that could enforce such guidelines, particularly across borders. Instead, they agreed that large-scale genomics projects will likely continue coming up with their own ways of solving these and other ethical and social issues, at least for now.

As for the issue of what data should be returned to participants and who should oversee such decisions? "We're really in uncharted territory," Koenig said. "We need to start experimenting with ways to do this."

Cambon-Thomsen agreed. "If the solution were simple and obvious, it would already be on the table," she said.