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Baylor Ethicist Addresses Confidentiality of Genetic Data

By Lillian Gu
July 2007

Amy Mcguire
McGuire was bioethicist for the team that sequenced Watson's genome. (Photo courtesy of Steve McCaw)

David Resnik
NIEHS Bioethicist David Resnik hosted the talk. (Photo courtesy of Steve McCaw)

In an event hosted by NIEHS bioethicist David Resnik, J.D., Ph.D., on June 15, Amy McGuire, J.D., Ph.D., from the Baylor College of Medicine delivered an intriguing talk titled "The Confidentiality of Human Genetic Research." McGuire, a bioethicist, is an assistant professor in the Baylor Center for Medical Ethics and Health Policy with research interests in informed consent and genetic confidentiality.

McGuire explained how the Human Genome Project, the International HapMap Project and other large-scale genomic sequencing initiatives have transformed the field of genetics. To illustrate this point, she said that in May 2007, 53 years after James Watson and Francis Crick made their historic discovery of DNA's helical structure, Watson was presented with his own personal genome on two DVDs during a press conference in Houston.

As DNA sequencing has become faster and less expensive, a data sharing dilemma has emerged pitting utility against privacy. "We're always making tradeoffs between advancing science, promoting the utility of the data and promoting individual privacy," stated McGuire, "and I am most interested in these tradeoffs."

The current trend is to rapidly release generated data, McGuire explained, based on the assumption that privacy is being protected. Because name and other personal information are replaced by a numerical code when a sample passes hands from the clinical researcher and the DNA sequencer, the coded data is considered "de-identified."

Currently, McGuire said, there is limited protection of genetic information in the United States. The Health Insurance Portability and Accountability Act protects "identifiable protected health information." The Common Rule requires informed consent and approval from the Institutional Review Board (IRB) when such information is obtained in human research, but coded genomic data, like blood and tissue samples, are not considered identifiable.

However, critics argue that DNA in itself is a unique identifier, so "de-identified" data is not truly de-identified. McGuire cited a paper( Exit NIEHS by Lin et al. in Science, which states, "Specifying DNA sequence at only 30 to 80 statistically independent SNP [single nucleotide polymorphism] positions will uniquely define a single person." In the case of individuals with rare alleles or individuals for whom additional family information is available, only a few SNP positions are necessary - making the distinction between private and identifiable problematic.

A National Human Genome Research Institute workshop( Exit NIEHS last year established possible methods of re-identifying individuals through their DNA, which include matching to reference samples, linking information from various databases and profiling with probabilistic data.

In reassessing the privacy-utility tradeoff, there has recently been a policy shift towards privacy, leading to a proliferation of databases with access restricted in the form of passwords and even proposals to require IRB approval. While restrictions such as these increase privacy, such protective measures are expensive and may severely limit accessibility. Other efforts to protect privacy include fragmenting or statistically degrading the data.

In a focus group with research participants in an epilepsy study, McGuire found that interest in data release was high, but most participants felt the decision should be left to them, rather than to the federal government or an institution.

McGuire agreed. "From the perspective of personal autonomy and dignity, people have a right to decide with whom they want to share their personal information."

"It's very important that research participants have trust in the research enterprise," she added. "Even if they are not harmed by the release of their information,... they still may lose trust if they find out that a lot of people who they might not want to have access to their information are getting access to their information. Without research participants, we don't have research."

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