Skip to main content
Premium Trial:

Request an Annual Quote

White House Bioethics Commission Unveils Draft of Genomic Privacy Policies

NEW YORK (GenomeWeb News) – The Presidential Commission for the Study of Bioethical Issues is getting closer to finalizing a set of recommendations for steps the White House could take to address privacy concerns stemming from the increased use of whole genome sequencing for research and clinical medicine.

The Bioethics Commission, which plans to issue its whole genome sequencing report sometime this fall, finished up a series of public meetings held Wednesday and Thursday on WGS with discussions of ways to address individual privacy and personal choice concerns tied to the use of personal genomic data in research and medicine.

The commission unveiled and discussed several draft recommendations that they plan to finalize in closed discussions over the coming months.

The White House-appointed group launched its study of WGS data privacy issues last year with the aim of drafting policy proposals that could ensure that individual genomic information remains private without hindering human genomic science.

"The commission's recommendations clump into two big categories: one is consent to whole genome sequencing and to the possible findings and how they will be treated, and the other is oversight," Commission Chair and President of the University of Pennsylvania Amy Gutmann said at the meeting Wednesday.

The commission's working list of draft recommendations — some of which may be consolidated or changed — focus on the development of policies for protecting data and limiting access to it, on implementation of "workable" informed consent policies, and on policies that facilitate the benefits of genomic data for research and the public good.

Concerns about genomic data privacy have been growing for several years and have been amplified as researchers have begun to realize that massive databases of pooled genomic and medical information from thousands of patients could be the cornerstone of a biomedical revolution.

Those aspirations have been supercharged as DNA sequencing costs have dropped precipitously, informatics and computational tools have advanced, sequencing has started to seep into clinical practice, and the capabilities of electronic medical records linking genomic information and medical information has begun to grow.

But the public could shy away from offering up their DNA for study if they feel that their information is vulnerable and could in some ways be used against them, embarrass them, or violate their sense of personal privacy.

"Without privacy protection, public trust will be compromised, and the scientific and medical potential of the technology will not be realized," Amy McGuire, associate director of the Research Center for Medical Ethics and Health Policy at Baylor College of Medicine, and Richard Gibbs, director of Baylor's Human Genome Sequencing Center, wrote in a 2006 commentary in Science.

"At present, ethical concerns about the privacy of subjects whose sequenced DNA is publicly released have largely been addressed by ensuring that the data are 'de-identified' and that confidentiality is maintained," McGuire and Gibbs wrote at the time, adding that such protections are not infallible and that "additional safeguards are required."

But at a Bioethics Commission meeting in May, McGuire hinted that she now sees some flexibility in public opinion on genomic privacy and suggested that making people aware of the value of research could influence their decisions.

"In today's day and age, people continually on a daily basis waive their privacy rights because they perceive the benefits to outweigh the loss of their privacy," she told the commission.

Data Protection: Use vs. Access

One of the draft recommendations advises that funders of genomics research and policy makers should "maintain and establish strong policies for protecting data while protecting opportunities for open models of access for those who want to share data with clinicians, researchers, and others," Guttmann said.

Such a policy would protect information about patients and research participants while enabling people to share data to support research, without creating "a dramatic trade-off" of privacy, she explained.

A related draft recommendation suggests that genomics research funders, possibly including those in the private sector, should ensure the security of whole genome sequencing data by holding all who come in contact with it accountable to certain laws and regulations covering the handling of such information. The group further advised that WGS research funders should establish strict limits to genomic databases for those who are using them to the uses for which they were created.

Much of the discussion among commission members hinged on hesitations about regulating who has access to genomic data and how it will be used. Some suggested that if people give consent for their information to be used in a broad and general way, so long as it is de-identified, then some privacy issues could be cleared up through the consent process.

Commission Member Nita Farahany, a professor of law and research at Duke University's Institute for Genome Sciences & Policy, expressed concerns about the first recommendation for strong protection policies, saying that she is "not convinced that strong restrictions to access are feasible in the long term."

She suggested that such data protection policies could instead focus on the use of genomic information, rather than on which researches have access to it.

Gutmann conceded that in a world where DNA can potentially be retrieved from a cup someone leaves behind at a coffee shop, it is a fair question to consider whether the policy emphasis should be on access to genomic information or on how that information, once collected, is used.

"It's okay to pick up a coffee cup, but it's the use that is the issue?" Gutmann asked.

Farahany suggested that she might support policies covering particular uses of such information and argued that there are currently such policies in about half the states in the US. She also said she might like to see statutes like the Genetic Information Nondiscrimination Act expanded to include other uses of genetic information, but it is not necessarily "good policy to restrict access."

Gutmann responded by expanding the issue. She explained that the questions before the committee are not only about whether information is used for nefarious or benevolent purposes, but the central ethical consideration of the how privacy is considered a part of personal human dignity.

The question "gets at the underlying care that some stranger doesn't just have access to be able to know a whole bunch of things about me that I don't want them to know."

Informed Consent Questions

Another of the recommendations advises that researchers and clinicians should adopt workable policies that allow patients to understand who has access to their sequencing data, and that the patients' preferences on how their data is used and accessed should be ascertained when their samples are collected.

Gutmann explained that this should not be a long list of every possible use for DNA information.
"We're recommending that people be able to consent to some broad uses," she said.

Raju Kucherlapati, a commission member and a professor at the Harvard Medical School Department of Genetics, advised that consent policies that work for research purposes could get tricky if they are implemented in doctors' offices. Research consent forms are often very long and detailed, he explained, and could prove to be too unwieldy for everyday use by physicians.

"The reason for excitement about these [genomic] technologies is that we would be able to diagnose disorders and have a real impact in clinical care," he said. "Clearly, current consent procedures for research are very extensive, and require a significant amount of time," but doctors do not have the time to use long and complex forms, he said, and that could deter doctors from using whole genome sequencing to treat patients.

Instead of performing a whole genome scan, physicians might just say to themselves: 'Let me look at just one or two genes,'" Kucherlapati added.

A related draft recommendation proposes that the Office for Human Research Protections should establish informed consent guidelines that clearly state how the data will be used and explain what benefits and risks accompany such research, what controls the individual has over their information, and what kinds of information may be returned to them.

A Potential Snag?

The complex question of whether and how incidental findings in GWAS data should be returned to patients and participants, which is the subject of another draft recommendation, could potentially derail the commission's plan to release its report this fall.
That proposal states that genomics research funders should conduct studies to evaluate frameworks for returning incidental findings and other results from GWAS studies, and they should investigate participants' preferences and expectations about whether such results should be returned.

The commission was not prepared today to endorse this recommendation, and Gutmann said that it is actually beyond the scope of the commission's charge, which is to focus on privacy protection and not on the return of results.

The commission agreed before closing today that it will either punt that issue to another, separate report and move forward with the plan to release the GWAS privacy report this fall, or it will take up the return of results issue more thoroughly soon and push the date of publication for the GWAS report to later this year.