Scientific progress sometimes requires a leap of faith. And patients who volunteer their records to a national genomic database under President Obama’s new initiative for precision medicine will be taking a big one.
In the young field of genomics, scientists are still drawing the ethical road map for open-ended exploration and realizing the privacy implications for what they might uncover. In the meantime, those who sign up for genomic studies are essentially along for the ride.
President Obama is asking Congress to embark down a new path in medicine to create treatments for diseases that have long stumped the scientific community. Obama’s 2016 budget proposal grants $215 million to advance the field of “precision medicine,” an approach in which experts toss out their one-size-fits-all strategy to develop drugs or therapies that target the genetic makeup and lifestyle choices of each patient.
As part of the proposal, the Obama administration intends to give $130 million to the National Institutes of Health (NIH) to build a database of records that will include biological samples, test results, medical histories and genomic profiles of a million or more Americans. The project should present unprecedented opportunities for researchers but also a host of new challenges for an administration with a dicey record of data protection at HealthCare.gov and a history of electronic surveillance in the name of national security.
“I think this is a bold initiative,” says Michael Zimmer, an expert in Internet privacy issues at University of Wisconsin-Milwaukee. “What I'm hoping here is that, given the sensitivity of this data, they will engage with the right communities and do it in a transparent way.”
Francis Collins, director of the NIH, has confirmed to International Business Times that many of the genomes included in the database will be gleaned from a network of 200 groups of scientists around the country who have enrolled, or are enrolling, at least 10,000 participants each for the studies. “It should be possible to build the precision medicine initiative largely from existing studies, saving a great deal of time and money,” he says.
Of course, amassing the data will only be half of the challenge; the federal government must also keep it safe. Holding a persons’ genomic and medical records is like having a window into their lifestyle, family history and possible future, and the risk is that such intimate information could be abused or misused if found in the wrong hands.
Some patient protections are already in place. The Common Rule, by which most federal agencies abide, prohibits research on human subjects without their consent except in special situations. The Privacy Rule of the Health Insurance Portability and Accountability Act also generally prohibits research on or the disclosure of information related to a patient's health without their consent among many universities and hospitals that may contribute to the nationwide study. And should this information ever leak out, Congress also passed the Genetic Information Nondiscrimination Act in 2008 to prevent insurers or employers from holding genetic findings against a person. Regardless, concerns still loom large in the minds of privacy advocates.
Pam Dixon, founder of a nonprofit concerned with privacy issues called the World Privacy Forum, argues that genomic data can be mishandled in ways that might impact an individual’s family or children as well as themselves -- for instance, detecting an inheritable disease or predisposition for a late-onset illness. She thinks these concerns merit extra layers of protection. “We cannot miss the mark on this one,” she says.
The administration plans to grant $5 million to the Office of the National Coordinator for Health Information Technology for the sole purpose of ensuring data security. Zimmer takes this investment as a sign that the administration is making privacy a priority from the start.
In fact, the White House has said the project's success rests on its ability to safely and securely share data among research groups, and volunteers will receive both technical and legal protections with their participation. “Considerable experience has already been obtained in how to strip data of obvious personal identifiers, allowing protection of the privacy of participants, while providing access to the data to qualified researchers,” Collins says.
Experts, including Dixon and Zimmer, point out that digital security measures can only go so far. Just last week, researchers at the Massachusetts Institute of Technology showed that they could sort out the identities of 1.1 million customers in an “anonymized” data set from stores with 90 percent accuracy simply by matching up metadata with the details of four purchases. “I believe we can lock down the data pretty well, but we can’t lock down the ‘identifiability’ of the data,” says Dixon.
Even if their data remain in the right hands (of researchers, in this case), patients who register for the database must also contend with the revelations that their genetic data may hold. In the name of transparency, patients will be able to see which studies their data are being used in and follow the results, perhaps through a built-in dashboard function. They may find that their genetic profile contains unsettling evidence that they are likely to develop Alzheimer’s, for example, or that they harbor a recessive gene for a disorder that they could pass on to their kids.
“There will be incidental findings -- I was looking for this, and I found that -- so when do I tell you, or should I tell you?” Arthur Caplan, a medical ethicist at New York University, said.
“Obviously there's information that comes out of genomics about paternity and incest. Not everybody will be happy to find out about their genes.” Zimmer adds that patients’ access to ongoing research could cause anxiety if they see that their data is suddenly being used to study Alzheimer’s and, without adequate interpretation or follow-up by researchers, are left to wonder whether they are prone to it.
With the enormous amount of research that is surely to come through the initiative, Dixon also wonders how participants will opt in when the database is to be partially built from studies that have already taken place. She also thinks there should be a way for participants to revoke consent at any time. It’s not clear at this point, she says, how the data will be protected and who will have access to it -- key details that she wishes had been made available with the proposal.
The White House tells IBTimes that patient consent will be sought in every instance and emphasized that if consent cannot be earned by participants, their information will not be included in the database. The NIH will begin to refine the details of the database at a workshop next month.
Dixon does believe that there are effective measures that could be implemented to further protect patient privacy. Five years ago, she submitted recommendations to an advisory committee at the NIH, discussing similar projects that would use genetic information to develop precision medicine. At that time, she requested that a “privacy advocate” be appointed to raise concerns and conduct ongoing reviews for any project of this sort. No such officer has been announced for the precision medicine initiative at this time.
Private companies have also dipped their toe into the safe storage of health data and genomic profiles, to varying degrees of success. By partnering with companies such as Pfizer to develop drugs and treatments, 23andMe has leveraged its genomic database for profit. Google has abandoned plans to create online health records after limited adoption by customers. And Microsoft is still hoping to find success with HealthVault, a system for online storage of health data that was launched in 2007.
“With this being a government-led initiative, we might have a chance of better protections, because the government’s going to have to be more transparent and be subject to a little more scrutiny with how they're going to handle these things,” says Zimmer.
Overall, Caplan believes the benefits of precision medicine will outweigh privacy concerns in this case. “I know there will be civil liberties concerns, but in the real world, privacy is getting weaker, and that's just the way it is,” he says. “While privacy is important, it's not as important as curing your breast cancer or fixing your Parkinson's disease.”
Collins says his agency intends to kick off the precision medicine initiative on Oct. 1, 2015, with the start of the 2016 fiscal year.