New Rules Proposed to Address Privacy and Trust in the Precision Medicine Initiative

Biopolitical Times

With the launch of the US Precision Medicine Initiative (PMI), patient autonomy within the practice of informed consent is being revisited. The PMI is designed to amass the data of a million volunteers in an effort to advance research and support public health. Alongside this national effort, proposed revisions to the “Common Rule” that regulates research with human subjects in the US are open for public comment through December 7, and are summarized in a Perspective published in the New England Journal of Medicine on October 28, 2015 by NIH director Francis Collins and NIH senior advisor Kathy Hudson.  

In general, the process known as “informed consent” is designed to give research participants the autonomy to consider the risks and benefits associated with a research study as part of their decision making about whether to agree or refuse to participate. Early on in biomedical and genomics research, the risks and benefits presented as part of the process were confined to health side effects and therapeutic outcomes. More recently, with the advent of advances in biotechnology, supercomputing, and the construction of large-scale data sets, risk and benefit have taken on new meaning.

In a country that is struggling to address national healthcare within the context of racial and economic inequities, analyses of risk and benefit must expand beyond traditional definitions. This is especially true as biomedical research has become increasingly dependent on human bodies, cells, tissues, and DNA. Today, healthy volunteers in clinical trials can gain financial benefit in the form of payment or compensation; contributors of genetic information must consider privacy and discrimination risk associated with release of genetic information; and patients must be aware of profits made from research on biospecimens collected as part of diagnosis or therapy.

Though standards of ethical conduct are mandated in the US by Institutional Review Boards as required by the National Research Act of 1974 and the Belmont Report (the “Common Rule”), these guidelines are in need of updating and revision given the unusual nature of cells as propagating entities or “biologics.” Professional working groups and ethics advisory councils, such as the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research, the Office of Management and Budget Working Group to Revise the Common Rule, the National Academy of Sciences, and the American College of Genetics and Genomics have issued statements regarding ethical conduct for research with human subjects and biospecimens, and healthcare provider responsibility to inform patients of incidental genomic findings and downstream profit making.

A good example of some of the changes underfoot is the establishment of the HeLa Genome Access Working Group in 2013. This group was put in place to acknowledge the important contributions made to tissue culture and cell research using a cervical biopsy specimen taken from Henrietta Lacks during her clinical treatment in 1951. That the Lacks family members, two of whom are members of the working group, now have a say in how the HeLa genome is used in research does much to acknowledge the history behind the establishment of this cell line and the downstream profits made from it in the creation of cell culture reagents, diagnostics, vaccines, and drugs.

However, I would argue, as others have, that this kind of personalized gatekeeping cannot be put in place for each individual biospecimen collected in the future. Once a cell is removed from a human tissue or blood sample, its establishment into a cell line makes it a portable entity that can move across time and space in labs spanning a wide array of investigation. Requiring consent for secondary research with stored biospecimens would mean that researchers would have to locate donors and participate in the informed consent process for each new research study that was not foreseen when the sample was collected. This proposal, alongside another to place de-identified samples within the scope of the Common Rule, may present formidable challenges for those researchers with limited funding and infrastructure. Thus, rather than broaden research participation and research scope, these proposals may bias research directions towards those that are seen to have large financial payoffs and that include the participation of a privileged class that has not endured the injustices of past biomedical studies.

Certainly additional oversight is needed to avoid medical injustices inflicted upon the marginalized or uninformed, as described in the Nature editorial titled “Justice for All” and the Presidential Commission for the Study of Bioethical Issues 2011 Report “Ethically Impossible,” which details the egregious practices of the US Public Health Service in the Guatemala and Tuskegee studies of sexually transmitted diseases from 1932-1972. In addition to reparations and apologies, a more proactive and interdisciplinary approach to conducting biomedical research using large data sets is underway.

In January, with the launch of the PMI, the National Institutes of Health convened a Workshop to Explore the Ethical, Legal, and Social Implications (ELSI) of Citizen Science. Many attendees struggled with the term “citizen science,” wondering if the language was appropriate when discussing population-based biomedical research. Citizen science often conjures up images of people sampling trees and water to address environmental concerns like climate change and pollution. But speakers, including Elizabeth Yeampierre of UPROSE, showcased the ways in which building relationships between communities and researchers is a form of citizen science. She highlighted the importance of being mindful of health and environmental injustice that has its origins in colonization, oppression, and slavery. Others highlighted the importance of involving communities and patients in research study planning, such that research goals are in line with the needs of these communities, as is being done in the National Patient Powered Research Networks (PCOR). 

Though these are important points, they appear to be more relevant to hypothesis-driven studies or epidemiological ones that have a specific disease focus. In the context of the PMI, there is no hypothesis. Instead, a large dataset amassed from existing and prospective studies would be mined to observe patterns and design future research studies that could influence policies regarding environmental toxin disposal, but also the development of lucrative drugs and products.

During the Citizen Science Workshop, participants expressed interest in learning how communities can be involved in regulating how, when, and where biospecimens can be used in research. Many of the issues raised are reflected in the proposed revisions of the Common Rule and associated comments. The workshop also informed the development of the Privacy and Trust Principles associated with the PMI, issued earlier this month. These principles are designed to acknowledge the complexity associated with the collection, manipulation, and dissemination of publicly donated biospecimens and lifestyle information, and to build a community of trust in the safeguarding of property and privacy.

What is somewhat disheartening is the lack of conversation around incentivizing contributions and participation from communities in an effort to honor this work, or what some have come to describe as biolabor. With respect to compensation for participation in research, there are a range of responses. Some believe that incentives or financial compensation can address the need for bioresources to assemble large data sets to advance scientific and biomedical research. These approaches, they argue, would specifically address the lack of diversity in samples by including those that have not traditionally been involved in such research. Others see biobanking as a civic duty to support a public good, not unlike other requirements in society, such as taxation, catalytic converter requirements for cars, and anti-smoking laws. Those that challenge this latter stance argue that each individual should be able to act autonomously, and that the choice to participate in research should be protected and recognized. This is precisely why the US uses an opt-in approach to organ donation upon one’s death, which is counter to other countries such as Wales which, on December 1 through the Organ Donation Wales Program, will move to an opt-out plan for organ donation upon death.

There also appears to be a level of “bodily exceptionalism” at play in public contributions, such that contributions involving internal resources (blood, DNA, cells) appear to warrant a different level of oversight and regulation than contributions that involve external resources such as money (taxation) or demographic information (census). Thus, some would argue that it is bodily integrity, not autonomy that is important. The range of responses to these positions, proposals, and practices is varied, reflecting the plurality of opinion even within groups that traditionally hold uniform voice.

Perhaps one of the most surprising proposed changes is that the Common Rule would no longer be limited to federally funded research. Rather, researchers operating in the private sector, or funded by state monies, would also need to comply. Because biologics can be traded, exchanged, shared, and sold, they often move in and out of the public and private sectors, making ethical oversight at the current time difficult to apply. If all research involving biospecimens was regulated under the same Common Rule, consistency would be achieved and donors and volunteers would have a clearer understanding that tissues collected during clinical diagnosis or treatment, or those donated for academic research, may down the road be used in research studies to develop drugs, diagnostics, and vaccines.

Another important proposed rule change applies to social science researchers. These researchers often complain that the Common Rule is not appropriately designed for their work and creates unnecessary hurdles. Thus, the proposed change exempts most of these studies. In this instance, the broad-strokes approach to solving a research challenge may cause more problems in the long run.

This is particularly true as the PMI intends to collect lifestyle and social information alongside genomic data. Similarly, private genomics companies like 23andMe and research studies using Apple’ ResearchKit will be collecting data that can be used in both biomedical and social science research, and will be most useful when these data are used together to address epigenetic influences on health. That biological data falls under the Common Rule, while environmental (built, social, and natural) data does not, seems counterintuitive to the goals of these interdisciplinary projects.

As we return to the definition of health proposed by French physician George Canguilhem in 1943 as “the ability to adapt to one’s environment,” we must also consider models of public health research that contribute to the social good. David Winikoff’s “charitable trust model” seeks to provide both guidance and expertise to communities and individuals that provide vital information and biological resources to these growing large-scale datasets. A closer look at the Privacy and Trust Principles of the PMI and the proposed revisions to the Common Rule may suggest an intention to adopt some of the principles of that model, but there is still work to be done.

Katayoun Chamany is Associate Professor of Biology and the founder of the Interdisciplinary Science program of Eugene Lang College for Liberal Arts at The New School and a Science Education for New Civic Engagements and Responsibilities (SENCER) Leadership Fellow.

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