On December 9 the Center held its most recent Genetics Perspectives on Policy Seminar (GenePOPS) at the National Press Club in Washington, DC. “Genetic Biobanks: Deposits, Withdrawals, and Consumer Protection” addressed issues raised by the growing number of large biobanks for use in genomic research.
Moderator Kathy Hudson, the director of the Center, welcoming participants and introduced the topic and the panelists: Teri Manolio, director of the Office of Population Genomics at the National Human Genome Research Institute and senior advisor for population genomics activities to the NHGRI director; Joan Scott, deputy director of the Center; and Isaac Kohane, director of the Children's Hospital Informatics program and professor of pediatrics and health sciences and technology at Harvard Medical School.
Manolio defined a biobank, or biorepository, as “any fairly large resource that collects specimens appropriate for genome wide studies.” The samples typically are linked to information about the donors’ health, sometimes through electronic health records. Studies done using biobanks investigate the causes of disease or the effects of drugs, and their results may be used to develop new drugs or diagnostics, she said. Manolio described a number of biobanks inside and outside the United States. Some of these biorepositories have begun to make their data available to outside researchers, she said, which raises new issues in such areas as consent and user-friendliness.
“Although there are many individual cohorts that are underway in this country, what we don't have is a nationally representative sample,” Scott noted in her presentation. The National Institutes of Health is considering setting up a national biobank containing genetic and health information of up to 500,000 Americans representative of the U.S. population. The agency enlisted the Center to find out whether the public would support and participate in such a program, and under what conditions, she said. Eighty-four percent of respondents to a national survey said a national biobank should be developed, Scott said, and this support cut across demographic groups. The survey also showed that getting individual research results back had the strongest influence on respondents’ stated willingness to participate, compared with level of compensation or how much time and effort the study would require. A top concern in both a series of focus groups and the national survey was privacy of the information in the biobank and who would have access to it, Scott said.
Kohane described the design of a study he leads to try to identify genetic factors that predict when an asthma patient will not respond to a certain therapy. The high-throughput technologies he is using could significantly decrease the cost of genome-wide association studies, he said. He also detailed a system that preserves study participants’ anonymity while still enabling them to receive certain study results via email. Data can be used to detect important patterns in the health care system, he said, giving the example of Vioxx, which caused an 18 percent increase in heart attacks. “This was happening all around the country and we did not know it,” he said.
The seminar concluded with a panel discussion and audience Q&A. A video of the event soon will be available on the Center’s Web site. – Shawna Williams
Transcript - “Genetic Biobanks: Deposits, Withdrawals, and Consumer Protection”
Overview – Making Every Voice Count: Public Consultation on Genes, Environment, and Health
Article - Public Expectations for Return of Results from Large-Cohort Genetic Research
Article - Subjects matter: a survey of public opinions about a large cohort study
Article - Ethical implications of including children in a large biobank for genetic-epidemiologic research: A qualitative study of public opinion