Six months after the Precision Medicine Initiative’s (Initiative’s) debut, the White House has released a working draft of proposed privacy and trust principles (the Principles) to govern future design and development efforts for the national research cohort envisioned by the Initiative.  This cohort will be a sample population of one million or more Americans, all of whom will provide data for use in research studies. The national research cohort is just one of the Initiative’s efforts to use precision medicine—an approach to medical treatment which aims to harness patient-specific information to inform the patient’s diagnosis and treatment decisions—to help accelerate biomedical discoveries.

As the longevity, scope, and size of the planned cohort would create new privacy and data security concerns, the administration is trying to safeguard against such concerns prior to the cohort’s development. The Principles are the first step in building privacy protections into the cohort’s design. The Principles were released in conjunction with other Initiative-related announcements and events, such as the White House’s Champions of Change event honoring individuals advancing the precision medicine field. The Principles promote transparency and participant involvement in all stages of the Initiative planning process, and attempt to set broad guideposts to balance data sharing with protecting cohort participants. Most importantly, the Principles provide a noteworthy preview of potential structural and procedural elements, and appear to set a trajectory for how the Initiative’s research cohort will develop.

Launching the Precision Medicine Initiative Research Cohort

The Initiative is a research effort launched by President Obama in the 2015 State of the Union address. The Initiative encompasses multiple funding initiatives, cross-agency directives, and research ventures, all aimed at collecting and using genomic, lifestyle and other clinical data in furtherance of precision medicine research. A signature endeavor of the Initiative is the development of a research cohort study of at least one million Americans who would participate by sharing genomic and clinical data, biospecimens and biofluids, and other information for use by both researchers and participants themselves. From the outset, the Initiative has prioritized participant privacy and security, convening an interagency working group to identify and address potential issues and create guidelines for navigating such issues in the design and development of the cohort.

That working group developed the Principles by leveraging expert roundtables, working group meetings and workshops, reviews of bioethics literature, and analyses of current practices in biobanks and research. In total, the working draft describes twenty-nine Principles in seven topic areas: governance, transparency, reciprocity, respect for participant preferences, data sharing, access and use, data quality and integrity, and security. Some of these topic areas are common among other general research and privacy principles already in place; for example, respecting participant preferences is a core principle of the 1978 Belmont Report addressing U.S. human subjects’ research. However, the Principles are unique in their focus on participant inclusion (e.g., transparency and reciprocity topic areas) and on data-specific issues due to the size and scope of the endeavor (e.g., data sharing, data access, and data quality topic areas).

Before describing the Principles, the working draft sets forth certain assumptions regarding the goals of the Initiative research cohort. These assumptions provide a more concrete outline of the way the cohort will eventually operate. For example, they indicate some cohort research data will be available to both participants and to the public, and that a minimum data set will be required from individuals in order to be included in the cohort.

In addition to these assumptions, the working draft also recognizes the need for more concrete data security guidance that the Principles could not provide. The working draft strongly recommends that a separate interdisciplinary team of data experts develop another document outlining a data security framework for the cohort. The assumptions and recommendations made by the working group are themselves fundamentally important in shaping the role and weight of the Principles, and deserve critical focus from stakeholders in their review and comments on the working draft.

Key Proposed Principles

The Principles themselves range from the general and more predictable—participants should be able to withdraw their consent for future research use and data sharing at any time—to newer, more Initiative-specific directives, such as prohibiting data use for targeted advertising. They also reveal details about the cohort that had not been previously highlighted in official reports or other Initiative media. Even though the Principles are organized into thematic categories, approaching them comprehensively suggests broader trends.

Participant Engagement

A primary goal of the Initiative is to involve participants in all stages of the design and development of the Initiative’s research cohort. A variety of Principles have embodied this “participant-centered” approach:

• The cohort should be planned and conducted in partnership with participants, including them at all levels of the oversight, design, and implementation of the cohort. 

• The cohort should engage in data sharing in a reciprocal manner, providing educational resources and certain medically useful research data to participants. 

• Participants would remain involved throughout the life of the cohort; researchers could recontact certain participants for future studies.

• Participants would be asked to help maintain the integrity of their research data, for example, by reviewing, reporting, and requesting changes to their research records if they identify inaccurate demographic or medical information.

Participant Protection

The Principles also seek to protect the privacy and agency of cohort participants:

• The cohort should have a centralized governance structure to effectively manage participant communications and prevent against potential data misuse. 

• Certain activities with cohort data, such as advertising or use against the participant in legal proceedings, would be banned. 

• Given the anticipated scope and duration of the Initiative, a dynamic, iterative consent process would be needed to ensure sufficient participant protection and Initiative transparency. 

• When analyzing the potential risks and benefits of research with cohort data, reviewers should consider potential risks and benefits to families and communities, such as stigmatization or other social harms, in addition to individual risks and benefits. 

• In order to access and use cohort data, researchers, institutions, and other authorized data users would have to comply with  cohort-specific binding rules in addition to all other applicable laws regarding human subjects research, data privacy, and security.  Given the additional compliance burdens that would likely follow, stakeholders interested in cohort research activities should be aware of and continue to monitor this directive.

Data Sharing and Use

The Initiative aims to gather large amounts of data for research purposes while ensuring such data is used and shared appropriately. Various Principles reflect this approach:

• There will be multiple tiers of cohort data access, including access by participants, researchers, and the public. 

• Certain data restrictions would apply: 

  • researchers would not be able to access participant data for future research without additional informed consent, and participants would have to authorize researchers to contact them in the future; 

  • cohort data could not be sold or used for directed advertising; and  

  • all cohort-related research findings must be published or summarized publicly, regardless of the outcome of the research.

Though not explicitly discussed in the working draft, the cohort will leverage existing research networks to add participants. As such, communities themselves may be involved in initiatives to generate and provide data to, and receiving data from, the cohort. The Principles address engaging and recruiting “communities with varied preferences and risk tolerances” to help design the cohort and identify potential harms, including social harms, that may stem from research with cohort data.

The Principles in Context

The White House released the draft Principles while announcing a host of other patient- and participant-centered efforts by both public and private entities committed to advancing the Initiative. In addition to the Champions of Change event honoring individuals advancing precision medicine, noted above, the White House also announced a cross-office partnership between the Department of Health and Human Services’ Office of the National Coordinator for Health IT (ONC) and Office for Civil Rights (OCR) to develop new tools to help patients access their health data. The ONC is developing one such tool, an open-source prototype, which will allow individuals to interface between mobile health applications, patient-generated data, and their medical records. Private-sector endeavors include mobile applications, patient-centered informational campaigns and new data registry capabilities. In this context, the Principles are consistent in their commitment to participant involvement.

As the White House continues to develop the Initiative, the weight of the Principles’ influence on cohort development remains to be seen. Compared to the earlier workshops on the Initiative and the cohort, the Principles notably do not address any potential issues with, or special protections for, children participating in the cohort.  Further, the Principles do not specifically address any potential privacy or security issues with the recruitment process, or with the collection and storage of biological specimens. These omissions suggest significant more work will be done to address these and other potential privacy and safety risks.