While lacking in some regards, the presidential commission report does offer a valuable step toward eventual regulation of genomic data gathering and use to ensure patient privacy. [© drizzd - Fotolia.com]
The Presidential Commission for the Study of Bioethical Issues took one small step for protecting genomic privacy with its release Thursday of the report Privacy and Progress in Whole-Genome Sequencing—but not the giant leap that the issue deserves.
One can hardly argue with the conclusions of the 140-page report, which the advisory panel has presented to the Obama administration. The commission spent much of this year wrestling with many of the issues arising from the falling price—and resulting potential for increased use—of whole-genome sequencing in clinical care, hoping to strike the right balance between researchers’ use of such data and the privacy of individuals whose genomes are under study.
There’s little that’s objectionable in many of the recommendations, which are sound policy priorities such as improving data security and access, and creating a fully informed consent process. Also unarguable is the observation that widespread public participation and individual willingness to share genomic data and relevant medical information will be needed in order to realize the promise held by whole-genome sequencing for aiding in drug development.
And the report is also right in pointing out that while patients’ genomes are the same whether sequenced in a doctor’s office or a research lab, privacy standards for each setting now differ greatly. The former is covered by the Health Insurance Portability and Accountability Act; the latter, by the federal “Common Rule” or Federal Policy for the Protection of Human Subjects.
However, the report’s 12 recommendations do not include a framework or guidance for implementing those fine recommendations through a measure that would balance researcher and patient interests yet protect genomic privacy. While beyond its charge of broadly examining “questions related to privacy and data access and the balancing of individual and societal interests,” according to its request for comments issued in March, the report’s lack of an implementation framework will require federal and state officials to address the issue themselves sometime in the future.
Coffee Cup Sample
Such guidance is needed because, as the report notes, only about half the U.S. states offer protections against surreptitious commercial testing. Those protections vary among states: It is legal in many states, the report says, to pick up a discarded coffee cup and send a saliva sample to a commercial sequencing facility to discover an individual’s predisposition to, say, neurodegenerative disease. That data could be misused, the report correctly warns, by a contentious spouse as evidence of unfitness to parent in a custody case.
“I don’t know that that’s the most significant risk in the real world, but it’s definitely evocative of the problem. You don’t want to be afraid that you can’t touch anything or leave any of yourself behind without some snoop coming around and then learning everything about your genetic destiny,” Jonathan D.J. Loeb, Ph.D., a partner in the law firm Dechert, told GEN.
Instead, the report recommends only that the federal and state governments develop a process for hammering out “a consistent floor of protections” covering whole-genome sequence data regardless of how they were obtained. These policies, the commission said, should protect individual privacy by prohibiting unauthorized whole genome sequencing without the consent of the individual whose sample is being examined.
“What we envision is a group consisting of federal and state experts and members of the informed public coming together, and determining how to get a consistent baseline most efficiently and effectively,” said Amy Gutmann, Ph.D., commission chair and president of the University of Pennsylvania, answering a GEN question during a briefing for reporters.
She said that can be accomplished either through federal law or a patchwork of state laws.
“It’s our job as a commission to ask the federal and state governments to step up to the plate and make sure it happens, and inform the public of the need for it to happen,” Dr. Gutmann added. “We are not a legislative body.”
A Job for Uncle Sam
Typically, federal funding of clinical or research work serves as a trigger for applying federal standards, while state standards fill in all the gaps, “or are sometimes free to be more rigorous than the federal standards,” Stephen Latham, Ph.D., director of the Yale Interdisciplinary Center for Bioethics, told GEN.
However, genomic privacy can be an instance where Washington can influence the states by using its agency expertise and information gathering to make recommendations about laws.
“State legislators are going to be looking at this and saying, ‘Wow we haven’t really thought about some of these issues, and we need to address them.”
Dr. Latham said it would have been more than impractical for the commission to address them directly given the numerous issues involved. Those issues include addressing genomic data for use in clinical intervention and for storage toward future research, as well as both federal and private uses of that data: “It would be impossible in a report like this to really give strong ground-level recommendations for laws or the content for consent forms.”
Nevertheless, he added, the presidential commission report offered a valuable step toward eventual regulation of genomic data gathering and use to ensure patient privacy.
“It is a very helpful goad to action. It says a lot of very sensible and very general things about informed consent, data privacy, and data security. These things need to be said because we are hurtling toward the $1,000 genome, and we don’t have basic legal standards in place to control the gathering and use of that information,” Dr. Latham said.
Applying New Directions
The presidential commission gives future drafters of genomic privacy laws many of the elements that should appear in any eventual measure, by applying five ethical principles developed for its first report, New Directions: The Ethics of Synthetic Biology and Emerging Technologies, toward the ethics of whole genome sequencing:
- Public beneficence requires facilitating ample opportunities for data sharing and access to data by clinicians, researchers, and other authorized users.
- Responsible stewardship calls for oversight and management of whole-genome sequence information by funders, managers, professional organizations, and others.
- Intellectual freedom and responsibility supports pursuing whole-genome sequencing and seeking models for broad data sharing by promoting “regulatory parsimony,” defined in New Directions as “only as much oversight as is truly necessary to ensure justice, fairness, security, and safety while pursuing the public good.”
- Democratic deliberation urges all parties to consider changes to policies and practices in light of the evolving science and its implications for enduring ethical values.
- Justice and fairness requires channelling the benefits of whole-genome sequencing to all who can potentially benefit, without the risks being disproportionately borne by any subset of the population, “including vulnerable or marginalized groups.”
The five principles follow from respect for persons, which as applied by the commission to genomic privacy requires that any collection and sharing of individual data be based on a “robust” process of informed consent.
“Laws and regulations cannot do all of the work necessary to provide sufficient privacy protections for whole-genome sequence data,” the presidential commission concluded.
The U.K. thinks otherwise, having launched a five-year Genome Ethics survey designed to gather empirical data to guide policymakers. The Wellcome Trust Sanger Institute and research partners are questioning healthcare professionals and patients as part of the broader Deciphering Developmental Disorders (DDD) Study, a collaboration of Sanger and the U.K.’s 23 regional clinical genetics centers.
Dr. Gutmann noted the difference between the U.K. and U.S., where states traditionally shared power with the federal government. Then again, that hasn’t stopped Washington from asserting policy primacy over the states on issues it deems urgent, such as implementing President Obama’s Affordable Care Act, a measure that 26 states sued unsuccessfully to stop.
Where genomic privacy is concerned, however, the scale of data networks, research collaborations and round-the-world science cry out for federal leadership, no matter who wins election next month.
[Read the report here.]