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Study looks at informed consent, privacy issues

In an effort to inform policies regarding genomic research, researchers at the Genetics and Public Policy Center (GPPC) at Johns Hopkins University in Baltimore, Maryland, are launching a study that will measure how geneticists obtain informed consent, share data, and return results to subjects.

The study will build on an ongoing GPPC investigation of public attitudes toward participation in genetic research to examine the role of genes and environment in human health.

Focus groups involving the general public and U.S. Department of Veterans Affairs patients have revealed that “people want transparency,” says lead researcher David Kaufman, PhD, Director of Research and Statistics at the center, a part of the Johns Hopkins Berman Institute of Bioethics.

“They don't want to be surprised. They support genetic research but say, ‘Tell me you're doing.’ So now we're going to researchers to see how they're using samples and obtaining informed consent, and where they want guidance,” Dr. Kaufman says.

The study, funded by the National Human Genome Research Institute, aims to collect information but will stop short of making recommendations.

“We're not advocating any models. We're just describing what's out there and what researchers want,”Dr. Kaufman says. He adds that because researchers' reliance on large-scale genomic databases is rapidly increasing, understanding their views will help policymakers and scientists as they design new studies and develop research guidelines.

Dr. Kaufman and colleagues will soon interview 40 geneticists and biobank data access committee chairs to inform the design of a survey of U.S. members of the American Society of Human Genetics.

If genetics research moves forward, we need to figure this stuff out right now. Problems will only get worse.

Karen Edwards, PhD

It will include questions about how they view informed consent, privacy, return results to subjects, address concerns, as well as about what guidance they use, and if that guidance is helpful. Dr. Kaufman says he plans to complete the data collection in winter of 2011.

Dr. Kaufman's findings could help prevent the type of problems that plagued the Texas newborn screening program recently. Earlier this year, the state destroyed about 5.3 million samples that were kept in a biobank without parental consent. Destruction of samples was part of a settlement of a lawsuit brought by the Texas Civil Rights Project. The suit charged the Texas Department of State Health Services and Texas A&M University with unlawfully and deceptively storing samples indefinitely for undisclosed research purposes, without plaintiffs' knowledge or consent.

The Questions

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  2. The Questions
  3. Struggles with IRBs

When querying his subjects about informed consent, Dr. Kaufman plans to ask about the scope of their processes.

“Does the consent formsay it's OK to use the sample to study any disease, a specific list of diseases, or does it exclude diseases or stipulate that it's necessary to reconsent for each time the sample is used?” Dr. Kaufman explains.

Privacy questions aim to find out what happens when biobanks release samples.

“For example, say I study cancer and give data out to cardiovascular disease researchers,” Dr. Kaufman explains. “What's demanded of recipient researchers to protect participants' interests? What do they say to participants? Whom are they sharing data with?” he says.

As for individual study results, Dr. Kaufman wants to find out how often and under what circumstances researchers return personal genetic information to participants.

“Say I have a cystic fibrosis mutation. Must the researcher tell me if he finds it? What if nothing is found? What if you have a gene that confers a higher risk of prostate cancer?” GPPC's focus groups reveal that the public wants this information, Dr. Kaufman says. “Returning research results is lots of work. What do researchers think is fair and reasonable?”

Struggles with IRBs

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  2. The Questions
  3. Struggles with IRBs

Karen Edwards, PhD, Director of the University of Washington Center for Genomics and Public Health in Seattle, Washington, will advise Dr. Kaufman's group on research methods so that its findings can be compared to results of her own research on how genetic researchers and institutional review boards (IRBs) view genetic research protocols.

“There can be major tensions between genetic researchers and IRBs. We're trying to understand their basis. This insight might help direct the Hopkins project,” Dr. Edwards says.

The biggest tension comes from differences over identifiability, she says. IRBs, she explains, tend to be more concerned than researchers about the possibility that a subject could be identified from their genetic material and data by a researcher who has that same individual in another study.

“If genetics research moves forward, we need to figure this stuff out right now. Problems will only get worse,” she says.

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Privacy questions aim to find out what happens when biobanks release samples.

The views of geneticists and IRBs are only part of the picture, says Dr. Edwards, who notes a dearth of knowledge about what subjects think.

“We don't understand well how participants understand the implications of research. Do people understand the risks and benefits?” she says.

Part of the problem is that researchers don't know what technology will allow them to do in 10 years, so it's hard to address all the possibilities for use of genetic material and data during informed consent, Dr. Edwards explains.

Kelly Edwards, PhD, Associate Professor of Bioethics and Humanities at the University of Washington School of Medicine, says solutions should be sought through inter-disciplinary conversations among experts on informatics, regulations, and ethics, as well as patient advocates and clinicians.

“It's too easy for researchers, for example, to dismiss a public expectation as unrealistic,” she says. “Being in room together forces a conversation and finding a solution.”