President's Ethics Panel Urges New Protections for Whole Genome Data

Whole genome sequencing offers tremendous promise for improving medical care, but it also raises troubling privacy questions. Policymakers and researchers need to tread carefully by crafting policies that protect patients' genome data without stifling research.

That's the bottom line of a report today from President Barack Obama's Presidential Commission for the Study of Bioethical Issues. The panel decided to weigh-in now, even before whole genome sequencing is offered routinely in the clinic, because with prices heading toward $1000 per genome, it soon will be. "This is a proactive and it's a forward-looking report. It's not a response to a crisis. But the commission understands that if this issue is left unaddressed, we could all feel the effects," said the panel's chair, University of Pennsylvania President Amy Gutmann during a press call yesterday.

Entitled "Privacy and Progress in Whole Genome Sequencing," the report notes that genome sequencing holds "enormous promise" and is already helping researchers track down the genetic culprits behind rare diseases, for example. But large genome data collections also "raise serious concerns" because of the risks that sensitive medical information may not remain private. If an individual agrees to have her genome sequenced, it could have implications for siblings, and genetic data may yield more information years from now that was "entirely unanticipated," the report finds.

The commission also worried about a scenario in which someone could unwittingly have their genome sequenced from saliva they left on a discarded coffee cup. If the person who tested the cup found a risk gene for a neurodegenerative disease and posted the results on a social networking site, the information could affect the coffee drinker's job prospects or cause other harm. Yet only about half of all U.S. states have laws that prevent testing someone's DNA without their knowledge, the report finds.

To address these issues, the panel's 103-page report (plus appendices) makes a dozen recommendations aimed mainly at research funders and policymakers. There should be "clear policies" defining who can access and use whole genome data -- including third-party data storage companies such as "cloud computing" services. The federal government and states should establish a "consistent floor of privacy protections" that penalize those who use someone's genome data without their consent. This might involve Congress modifying the Health Insurance Portability and Accountability Act, which protects patients' medical information, and the Genetic Information Nondiscrimination Act, which is intended to prevent employers and insurance companies from misusing genetic data, said commission member Anita Allen, a law professor at the University of Pennsylvania.

Patients need to be informed about what it means to have their genome sequenced. Those participating in research should also know who can access those data, how they might be used, potential risks such as a security breach, and whether they will receive specific test results. This should apply whether the sequencing is done as part of medical care or research, which are covered by separate rules, the panel said. "The fact is that very few people right now, including many experts as we found, understand what the privacy protections are and where they begin and end. And that massive uncertainty creates a lot of distrust and fear," Gutmann said.

The committee did not weigh in on what researchers should do if they sequence a patient's genome and find information that was not expected but could be important. Whether such "incidental findings" should be returned to patients remains "an unsettled issue," the report says. However, the panel advises that individuals be told of the potential for incidental findings and whether they will be returned.

In another recommendation, the report endorses the research use of genome data that are collected as part of health care. Such projects are necessary, Gutmann said, because it will take "millions of genomes" to fully understand links between the genome and diseases such as cancer, heart disease, and Alzheimer's. The commission also recommends examining "alternative models" in which patients collaborate with researchers, such as one used by the company 23andMe, which uses DNA results from its customers for genetic studies.