Report balances privacy versus whole genome sequencing

Misuse of information is addressed

Medical and electronic data advances in the 21st century have made it possible to determine the entire DNA sequence of any individual on the planet. The first question that many bioethicists ask is, "How do you protect individuals' privacy from the misuse or unauthorized use of this information?"

The goal is to reconcile privacy with the enormous public benefit that whole genome sequencing has to offer, says Lisa M. Lee, PhD, MS, executive director of the Presidential Commission for the Study of Bioethical Issues (PCSBI), which was created in 2009 by executive order to study and promote policies that ensure the ethical conduct in research and health care delivery.

The PCSBI, chaired by Amy Gutmann, PhD, president and professor at the University of Pennsylvania in Philadelphia, held public meetings to discuss genome research and privacy for more than a year. In October 2012, the commission issued a report titled, "Privacy and Progress in Whole Genome Sequencing." The report addresses privacy concerns in the new era of a readily available technique for determining the complete sequence of individuals' DNA.

"The commission has crafted 12 recommendations, calling for strong baseline protection for privacy while promoting access and sharing of data," Lee says. "We're really interested in ensuring that many people feel safe in sharing their data; we need data from an enormous number of individuals to move this research forward."

Trust is essential for the research to progress, and this means improved data security and access to databases, Lee adds.

"The most important piece is a fully informed consent process," Lee says. "People who are participating in whole genome sequence research and those having research done in a clinical setting need to know what it is they are signing up for."

Participants should know what whole genome sequencing is, what it will do for them and their family members, and they should know how the information will be used in the future. Also, they should have some say in the decisions for using genome data, she adds.

Commission members acknowledged in various discussions about whole genome sequencing and privacy the way this issue has evolved in an era of rapid adoption of new technology. Privacy remains a value to society, but the lines between private and public have changed over time, according to Gutmann, who chaired a PCSBI meeting on the topic, held Aug. 1-2, 2012, in Washington, DC.

"And technology certainly has contributed its fair share to those shifting lines," Gutmann says.

Technology also can be used to influence public opinion about privacy, according to an expert who spoke before the commission at the August meeting.

"We can craft new technology to shape how society might think of our privacy as we go forward," says Latanya Sweeney, PhD, visiting professor and scholar, computer science, and director of the Data Privacy Lab at Harvard University in Cambridge, MA.

"Last year PricewaterhouseCoopers estimated that the sharing of medical records beyond the care of the patient was a $2 billion market. The result on society is a belief that privacy is dead. There's just too much information out there," Sweeney explains. "On the other hand, once collected, these data, my data, your data become closely guarded private assets of these companies."

The goal from a bioethical perspective might be to use new technologies to help society enjoy both privacy and utility of data, she notes.

"And I've had a lot of success in this area," Sweeney says. "It includes ways of assessing re-identified risk in data, methods for sharing data under the HIPAA statistician provision and so forth."

Harvard University has two living labs that could provide best practice models for finding a balance between technology, sharing information, and individual privacy. One is the MyDataCan lab, in which the public can assemble and control their own data. The other is the Data to Science project, in which people donate data to science after death.

"This approach combines data that's otherwise trapped in silos, giving the individual the most complete copy of information about themselves," Sweeney says. "And it adds transparency and knowledge to data-sharing arrangements."

Both MyDataCan and Data to Science labs have a privacy guarantee that says the holders of the data cannot view the data. The MyDataCan information is doubly encrypted, with Harvard holding one key and the other maintained by the individual. The Data to Science information cannot be viewed until the individual dies, she explains.

"[W]e believe these kinds of living labs will provide benefits and utility to society and begin to establish new norms for privacy expectations," Sweeney says.

There should be mandatory data security and information protection standards to fulfill the obligations of public trust in genetic research, according to Sonia Suter, MS, JD, a professor of law at George Washington University in Washington, DC. Suter also spoke at the August PCSBI meeting.

"Perhaps [we should] even require that the information really is used for the public good," Suter says. "That's a vague notion, but some sort of promise to the people that when they're giving up a little bit of privacy rights that they're doing it for the public good since altruism motivates people to participate in research."

Security protections should extend to a prohibition on inappropriate re-identification of samples and inappropriate uses of genetic information, she adds.

"And I think it's really important to have laws that prohibit the surreptitious kind of sampling and analysis that is allowed in most states, or isn't prohibited," Suter adds.

From a legal perspective there are two other things research institutions can do to improve their handling of privacy issues:

  • First: "To acknowledge the needs for research while giving people some control over their samples and their information but not full control," Suter says. "We might think about having a kind of general consent for research with some options to opt out of future research and particular categories of research."
  • Second: "And then I also think it's really important to ensure that people have full understanding of the limitations of privacy protections in this area; that while there are efforts to maintain security of the data that it's not entirely failsafe," she adds. "One of the greatest risks of participating in this research is the fact that there are privacy risks and people should be aware of that."

Whole genome sequencing provides some unique health care and research opportunities, and it generates a lot of interest in the general public, Lee notes.

There are strong communities of people with genetic conditions who are extremely interested in sharing their data and having researchers use their data to learn about their condition, Lee says.

"We have groups of people who pull together on the Internet and want to use their data and have researchers use it to advance science around their condition," Lee says. "When we talk about creating a place where we can promote data access and sharing, we want policies in place where data can be shared safely, and those policies also protect people who don't want their data shared."

The key to a whole genome sequence research policy is that it recognizes the balance needed between the use of this technology, the benefits to society of this research, and the need for safety among individuals who contribute their genetic data to the research, Lee says.

"We want to create a safe base where people can put their data, and we can make progress," she explains. "But unless we create that safe place, solid barriers of security, people won't want to participate."