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Ethicists, Researchers Weigh In on Returning Results to Study Participants at CSHL Meeting

By Andrea Anderson

NEW YORK (GenomeWeb News) – The complex and contentious issue of returning individual research results and incidental findings to genomics study participants was front and center during an Ethical, Legal, Social, and Issues session at the Biology of Genomes meeting at Cold Spring Harbor Laboratory last week.

"There is a wide spectrum of positions out there," said University of Minnesota law, medicine, and public policy professor Susan Wolf, who moderated the panel, which included ethicists and researchers from the US, Canada, the UK, and Japan.

While introducing the session, Wolf outlined what she called a "growing and global debate" over whether — and how — results should be returned to individual study participants.

The topic has spurred a wide range of opinions, she noted, with some saying data should be used for research alone, some favoring the return of certain validated, clinically actionable findings, and others arguing that all information should be returned to participants.

Throughout the panel, presenters offered a variety of perspectives on the issue, discussing what sorts of data return, if any, they view as appropriate, the feasibility of returning such data return under existing research protocols, and their own experiences in addressing such issues to date.

For instance, Yann Joly, a lawyer, genetics researcher at McGill University, and data access official for the International Cancer Genome Consortium, offered an ICGC-based perspective on the return of individual research results.

Joly explained that members of the ICGC, which involves researchers in 10 countries who plan to characterize 50 cancer types and subtypes, did not reach a consensus on the issue of returning individual results.

Consequently, Joly said, the default decision is to not return research results to individuals. Even so, he explained, guidelines vary depending on the requirements of countries in which samples are collected and analyzed, leading to consent forms that vary with study locale.

When and where the return of results does occur, he added, several factors need to be considered, including the need to verify initial results (for instance, through an accredited testing lab), ways to determine which participants want to get information back, how to reach these individuals, how long the feedback process should last, and who should return the results.

Joly also highlighted expenses — both in terms of time and money — associated with each step needed to effectively return data to participants. "There's a cost that we sometimes forget about," he said.

Cost is not the only drawback to returning results at the moment, according to Kyoto University science communication and bioethics professor Kazuto Kato.

Citing factors such as a frequent lack of clinically validated and/or actionable results, a lack of infrastructure, incompatibility with specific health care systems, and the complicated nature of genomic information, Kato said he's against returning individual research results — at least for now.

Still, Kato said his opinion could change down the road as findings become better validated and other issues are addressed. For instance, he speculated that in the future individual genome sequence data may go into a centralized clinical database, making it possible for an individual to learn about his or her research results directly from a doctor.

For her part, Jane Kaye, a law professor at the University of Oxford and director of the institute's center for health, law, and emerging technologies, noted that some of the same sorts of information flow needed to facilitate the return of results are already being used by biobanks, large data repositories, and research consortia.

"Researchers are very good at sharing information," Kaye said. "We now have more ability to actually have data, bring it together, and actually interrogate it."

At the same time, she added, such large-scale research is also challenging some of the ethical principles and paradigms that traditionally underlie research — as well as the regulatory divide between the research and the clinic.

For example, teams collecting samples from participants often are not the same groups that generate and analyze data on these samples, Kaye said, explaining that returning results will hinge not only on improving the translation of research information but also on the development of pathways to manage individual information generated by large-scale studies.

Kaye also noted that the focus on anonymization in research in some ways conflicts with — or at least complicates — the notion of returning individual results.

Nevertheless, Isaac Kohane, a pediatrics and health sciences and technology professor at Harvard Medical School and chair of the Children's Hospital Boston's informatics program, said returning information and incidental findings to study participants does not necessarily conflict with privacy concerns.

Calling the "incidentalome" too big and important to ignore, Kohane described his own struggle over what to do when one of his students detected individuals with what initially appeared to be a gene fusion associated with a type of leukemia during a research study.

Following that experience, Kohane and his colleagues came up with an approach for addressing the dual issues of privacy and return of results, developing a framework that they say allows the return of appropriate and/or clinically relevant information to participants who choose to get these results while also maintaining privacy.

Through this approach, described in a 2007 policy paper in Science, research results and incidental findings gleaned from a study are provided to an informed cohort oversight board that pores over the data, determining which results, if any, are appropriately validated and pertinent to participants, Kohane explained. Then, the selected results are entered into encrypted, personally controlled health records for participants who have opted to have such results returned to them.

The Children's Hospital Boston is currently testing such a method, Kohane said. And while this type of approach will inevitably add time and money to research, he added, it can also serve to support a role for genomics in health care.

"We don't have to enter into a pact of mutual ignorance," Kohane said, arguing that research participants should directly benefit from research findings where clinically appropriate. "This is an ongoing communication process."

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