The U.S. Presidential Commission for the Study of Bioethical Issues is grappling with many of the ethical issues arising from the falling price—and resulting potential for increased use—of whole genome sequencing in clinical care. The aim is to find the balance between researchers’ use of such data and the privacy of individuals whose genomes are under study.
Addressing the committee last month, speakers offered varied perspectives on key questions: How is genetic information collected and stored? Who will interpret this genetic data? Is it ethical to allow healthcare providers to interpret the data without a health systems infrastructure to help them interpret it? What will be the privacy protections for patients?
The commission plans to discuss its recommendations publicly and come to consensus views at its August meeting. Recommendations are to be finalized in a report to President Barack Obama set to be completed this fall.
“The Norman Rockwell model or Marcus Welby model that your doctor knows and remembers everything and can do it all right is hopelessly inadequate for this era of data-intensive healthcare,” said Daniel R. Masys, M.D., affiliate professor of biomedical and health informatics at the University of Washington School of Medicine. “Our ability to acquire person-specific DNA data far exceeds our understanding of this information.”
“Is it even ethical to allow our healthcare system to practice without a systems infrastructure for decisions support?” Dr. Masys asked. “Is it ethical to discard person-specific DNA data with data of unknown significance? And lastly, how does genomic consent differ from standard consent? How does consent change when person lacks genetic health literacy, when a health condition does not yet exist but is a future probability?”
Combating Ignorance by Ramping Up Use
Dr. Masys was one of two speakers at the Presidential Commission session, called “Ethics and Practice of Whole Genome Sequencing in the Clinic,” held at the University of California, San Francisco. The other was Richard Gibbs, Ph.D., director of the Human Genome Sequencing Center at Baylor College of Medicine (BCM).
Amy Gutmann, Ph.D., commission chair and president of the University of Pennsylvania, asked Drs. Masys and Gibbs what the best means are for combating ignorance leading to misinformation about genetic testing among the general population. The answer, Dr. Gibbs cautioned, was not to limit knowledge to a few patients or doctors.
“The slowing of the pace of discovery that can transform lives is dramatically affected by inhibiting the distribution and the access to these data. To me, that is a vastly higher risk than what someone might foolishly sign on to in the form of a snake oil offer either in genetics or in used cars; you name your favorite source of misinformation,” Dr. Gibbs argued.
“Just as people get saved by doctors doing good things, people get harmed and sometimes killed by malpractice,” countered Dr. Gutmann. “You can’t just brush it away.” Dr. Gibbs replied, “Absolutely; there’s a tension here. But the danger of not knowing is as enormous as the risk of knowing.”
Protecting Patient Privacy
Mark A. Rothstein, Herbert F. Boehl chair of law and medicine at University of Louisville School of Medicine, pointed to the fact that genomic information in electronic health records could be accessible to healthcare providers without a need to know. Institutions will be challenged to develop policies to minimize access to data: Will they allow patients to opt out or require them to opt in.
Existing laws, Rothstein said, already allow a dozen exemptions to data privacy such as public health activities and threats, national security, and investigating reports of abuse or neglect. The law also allows third-party access to the data in some situations such as when screening prospective employees, applying for insurance, or pursuing disability insurance. “If you test it or you sequence it, the results will be used. The only questions are, how broadly and for what purposes and with what consequences?” Rothstein asked.
George Annas, J.D., chair, health law, bioethics, and human rights at Boston University’s School of Public Health, said his concerns about privacy were similar to those raised about social media by Lori Andrews in her book I Know Who You Are and I Saw What You Did: Social Networks and the Death of Privacy.
“She doesn’t want to shut down Facebook any more than I want to shut down genetics,” Annas said. “We want to make it better. We want to make it more user-friendly. And we don’t want people to have to worry about how people are looking at them, are looking at their private information to make decisions about them that they may not even know about.”
During a commission session focused on “Control, Access, and Human Genome Sequence Data,” Jane Kaye, D.Phil., director of the Centre for Law, Health and Emerging Technologies (HeLEX) at Oxford University, discussed the challenges biobanks face in securing informed consent from enrollees.
One is the diffuse oversight of biobanks among research ethics committees and institutional research boards. Authority is nationally based and often committee-specific, posing a problem for global networks seeking to share samples and data. Another challenge is the contrast between the principle that participants should be able to withdraw from studies at any time and the reality that withdrawal cannot be promised when data and samples are shared widely.
“We can no longer promise that individuals can remain anonymous as we had been able to do so previously when it comes to data sharing,” Dr. Kaye said, given the uniqueness of DNA data, the ability to replicate data, and the sharing of data and linking to other datasets globally. “I think there are limitations on how far we can anonymize effectively, particularly when we get very rich data and we get whole genome sequence data. I think this can be detrimental to science, because in actual fact it’s the richness of the data that is so important.”
“What we need to do is make a conceptual shift away from simply thinking about privacy as something that has to be protected but rather to think of it as something that needs to be enacted through partnerships,” with research subjects informed about the use of data, especially if it is to be used for secondary purposes, Dr. Kaye said. Electronic oversight, or e-governance, she said, can help keep data away from unauthorized persons.
John Wilbanks, founder of Consent to Research, urged the commission to focus on enabling the transformation of genetic data into useful information and knowledge for researchers rather than stalling the flow of information. The commission will need to craft recommendations that address both patients who want all the details from sequencing and those who don’t while accommodating the desire of sequencers to collect as much data as they can to aid in disease research and drug discovery.
The President’s bioethics committee should also contact the U.K.’s Wellcome Trust Sanger Institute, which last month launched its own public online survey of public concerns about genomic data. The survey is part of a larger five-year Genome Ethics study being conducted through 2015. It will consist of the online survey and 50 qualitative interviews in the U.K. Whether through a similar survey or some other means, the U.S. bioethics commission should inform itself more on public concerns involving genetic data before writing its recommendations to better balance their needs with those of institutions.