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White House Bioethics Commission Tackles Genomic Data

NEW YORK (GenomeWeb News) – The Presidential Commission for the Study of Bioethical Issues has begun looking into the ethical concerns brought about by whole genome sequencing, and in particular wants to know what policies may best enable researchers to use genomic data while protecting individual privacy.

The commission, which plans to release a report on genome sequencing data policies later this year, heard from several genomics and ethics experts at a public meeting in San Francisco yesterday that focused primarily on how to address the unique constellation of problems posed to the public and scientists by the use of whole genome sequencing in research.

The area is a thorny one for the research community. Science driven by genomics data offers a seemingly unlimited trove of riches for researchers, but it also stirs unique concerns for those who volunteer their personal information.

Unlike other types of data, genomic information can be predictive for risk of future illness, such as Alzheimer's disease, it can affect participants' relatives (who may share genetic variants), it doesn't reflect personal life choices (as one's genetic code cannot be chosen), and new knowledge about genes and risk is being discovered nearly all the time.

The ways that researchers plan to use that data — by scanning through, slicing, and correlating massive pools of genomic information from individuals in a format that may be open to thousands of scientists around the globe — intensifies the concerns about privacy and how information may be used.

The commission yesterday kicked off with a personal case history from Retta Beery, a mother of twins whose successful treatment for dystonia was enabled by whole genome sequencing. She presented her family's real-life account of the possibilities of applied genomic medicine.

Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine, where the Beery's sequencing and analysis was conducted, told the commission that the "paradigm of free and open data release" was established by the Human Genome Project, to which he contributed.

"As a group, we met, way back in the 1990s ... and established this principle of free and unrestricted release of human genome data for all, [and] it has been profound in the way that the release of these data catalyzed other studies," Gibbs said. He explained that this principle has fueled genomics since then, and has led to other open projects, such as The Cancer Genome Atlas.

While that paradigm has served the research community well, Gibbs said, genomics is now beginning to trickle out of the academic labs and into the clinical medical field, and the complicated nature of this information may pose unique opportunities and problems.

For example, Daniel Masys, an affiliate professor of biomedical and health informatics at the University of Washington School of Medicine, explained that the rise of electronic medical records and their usefulness in large-scale genomics studies is currently at the vanguard of the advance of genomic medical science.

Masys, who formerly was chair of Vanderbilt University's Department of Biomedical Informatics, told the commission that the "very large" biobank at Vanderbilt has already been leveraging EMRs to use genomic data to link discoveries to treatment outcomes. And it has developed a pharmacogenomic application that alerts physicians about genetic variant issues as they attempt to prescribe a drug.
However, he explained, the vast majority of hospitals and clinics don't have the infrastructure necessary to begin to implement this and other similar genome-based medical innovations.

In the context of rapidly advancing science and an unprepared healthcare environment, Masys said three central questions arise.

"Is it even ethical to allow our healthcare system to practice without a systems infrastructure for decision support? The Normal Rockwell or Marcus Welby model that 'your doctor knows everything and is always right' is hopelessly inadequate for this era of data-intensive healthcare," he said.

"Secondly, is it ethical to discard person-specific DNA data that has unknown significance? And lastly, how does genomic consent differ from standard consent? And in that regard, how does consent change when a person lacks genetic health literacy?"

Privacy Protection Paramount

Mark Rothstein, chair of Law and Medicine at the University of Louisville School of Medicine, outlined several concerns about the public's privacy rights and how they may not be protected as it relates to genomic data and electronic records. Personal genomic information in EMRs could end up in the hands of healthcare providers who may not need access to it, such as dentists or emergency room doctors who come across a patient's risk status for certain conditions.

Many individuals with sensitive and stigmatizing information in their health records are going to be very concerned about creating a longitudinal, comprehensive record when there are no access controls on who gets access to that information, he said.

In addition, he also expressed concern about how privacy and confidentiality can be ensured for research purposes. Currently, there are three options for handling this: using de-identified data that removes the genomic information from the patient, allowing individuals to opt out from having their data used, and inserting an opt-in provision into consent forms. All three of these options have their own problems and difficulties, mostly stemming from discomfort on the part of patients.

Rothstein also is concerned about nonmedical uses of genomic data, such as disclosures required by law, for certain judicial proceedings, for tissue and organ donation purposes, for research purposes, for national security and intelligence activities, and for workers' compensation activities.

Rothstein noted that people are compelled to release their health records 25 million times per year for a range of reasons, specifically for life insurance applications and specialized employment applications, adding that it is inevitable that genomic information will be used in ways beyond research and medical treatment applications.

"If you test it, or you sequence it, the results will be used," he said. "The only questions are how broadly, and with what purposes, and with what consequences?"

George Annas, chair of health law, bioethics, and human rights at Boston University School of Public Health, said these complex issues boil down to a very simple question: "How can we support science and research and also protect individual privacy? I think it can be done," he told the commission.

The panel also loosely discussed a range of approaches to the genome-wide data and privacy problems, such as using innovative e-governance structures for research projects, employing internet networking-based approaches for reaching out to receptive research participants, using conditional consent forms that enable participants to benefit more from genomic medicine in return for use of their results, and others.

To close the session, commission Vice Chair James Wagner, president of Emory University, generalized the wide range of issues posed by the use of genome sequencing data today as a simple question of risk versus benefit.

"Currently, people both enjoy the freedom of, and suffer the consequences of, being treated in a manner that is independent of their genome," he said. Wagner added that he hopes the committee "might suggest some global best practices ... and ensure as best we can against negative consequences, but it's quite a big challenge."

Commission Chair Amy Gutmann, president of the University of Pennsylvania, said that the commission will continue its discussion of these issues at another meeting before it issues a report. The group has three more meetings scheduled this year in May, August, and November.

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