The Principle of Transparency in the Precision Medicine Initiative

The PMI is a highly ambitious effort to create a cohort of over a million volunteers who agree to contribute their health data over many years to further investigation of the molecular, environmental, and behavioral aspects of disease. Led by the National Institutes of Health (NIH), it aims to develop an understanding of important variations among patients that will enable targeting therapeutic or other interventions to maximize success in treatment and prevention of disease. It also aims to create new models for patient engagement not only in care, but also in research. And the plan is to try to maximize diversity within the cohort so that individuals of different types are not left behind in the advantages that the PMI may bring. The information collected about cohort participants will be vast and various: blood and possible other tissue samples, information from electronic health records (EHRs), a baseline physical exam, insurance claims, mobile health devices, participant surveys, and other sources. And cohort participants will be expected to agree to be re-contacted over time to participate in a variety of more specific research studies.1

As thus envisioned, the PMI presents difficult questions of transparency. Participants in the cohort will vary in location, age, language and culture, race, socioeconomic status, and many other factors. As individuals are enrolled in the cohort, there will be an overall promise of what it may achieve but no precise information about how the data will be used, how frequently individuals will be re-contacted, what studies will be of interest, how long the data will be valuable, whether other data will be needed and combined with the types of data sought initially, and what will ultimately be learned. Any consent at enrollment therefore must perforce be highly general, based on whatever parameters can reasonably be anticipated. But these parameters may change as more is learned. Transparency thus will involve not only information at a single time slice, but information over time as the uses of the cohort change and results emerge.

The initial White House announcement of privacy and trust principles for the PMI included transparency as a guiding principle necessary to building trust among participants in the program and more generally in society as well. The principle of transparency was fleshed out into five areas, as follows:

  • 1. A dynamic information-sharing process should be developed to ensure all PMI participants remain adequately informed through all stages of participation. Communications should be culturally appropriate and use languages reflective of the diversity of the participants.
  • 2. Information should be communicated to participants clearly and conspicuously concerning: how, when, and what information and specimens will be collected and stored; generally how their data will be used, accessed, and shared; types of studies for which the individual’s data may be used; the goals, potential benefits, and risks of participation, including risks of inappropriate use or compromise of the information about participants; the privacy and security measures that are in place to protect participant data, including notification plans in the event of a breach; and the participant’s ability to withdraw from the cohort at any time, with the understanding that consent for research use of data included in aggregate data sets or used in past studies and studies already begun cannot be withdrawn.
  • 3. Information should be made publicly available concerning PMI data protections and use, and compliance with governance rules.
  • 4. Participants should be notified promptly following discovery of a breach of their personal information. Notification should include, to the extent possible, a description of the types of information involved in the breach; steps individuals should take to protect themselves from potential harm, if any; and steps being taken to investigate the breach, mitigate losses, and protect against further breaches.
  • 5. All users of PMI data should be expected to publish or publicly post

a summary of their research findings, regardless of the outcomes, as a condition of data use. To enrich the public data resource, mechanisms for data users to integrate their research findings back into PMI should be developed.2

These are impressive transparency goals. Putting them into practice will not be easy. The NIH working group report on building the PMI cohort, for example, references transparency only three times, and one of these is to mention the White House announcement. The other two references emphasize the return of their own data to participants; what this means is not further explained, but perhaps the goal is to highlight the patient engagement aspects of the PMI. The references do not as yet elaborate other aspects of transparency, such as how to communicate what is being done with information collected for the PMI or what investigators will be expected to do in sharing research results with participants and the public more generally. In the first reference to transparency, in the final sentence of the executive summary, the working group states that “Transparency regarding data access and use will be emphasized, with return of information to participants, including aggregate data and return of participant’s personal data as desired.”3 And in second reference, in the discussion of data access, use, and analysis, the working group notes, “In the spirit of transparency and collaboration, individuals and organizations that provide data to the PMI cohort should, as a general policy, have unrestricted rights of access to their own submitted data. Individual participants will have varying levels of health and science literacy, and will need assistance with interpretation of their data.”4

These references are the only elaborations of transparency by the NIH working group. Clearly, much more will need to be said about transparency as the PMI is developed. More needs to be said about transparency for other emerging uses of information as well.

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