Watching President Obama’s recent 2016 State of the Union Address reminded me that one year has passed since the President announced a new “precision” or personalized medicine initiative to advance personalized, effective therapies for the American public. It was during his 2015 State of the Union Address that the President stated:^[1]

“[T]onight, I’m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes, and to give all of us access to the personalized information we need to keep ourselves and our families healthier. We can do this.”

Soon after the President’s address, details emerged regarding the Precision Medicine Initiative (“PMI”). $215 million was committed from the President’s 2016 budget to be broadly allocated to National Institutes of Health (“NIH”), the Food and Drug Administration (“FDA”) and the Office of the National Coordinator for Health Information Technology (“ONC”). The money was to be invested as follows:^[2]

• $130 million to NIH for the development of a voluntary national research cohort of a million or more volunteers who will voluntarily share health, familial and genetic information to be shared among responsible researchers;
• $70 million to the National Cancer Institute (NCI), part of NIH, to understand the genetic drivers of cancer and improve therapies;
• $10 million to FDA to modernize the regulatory structure and process to advance precision medicine;
• $5 million to ONC for the development of interoperability standards and requirements that support PMI.

The money was to be invested to support PMI’s stated objectives of:^[3]

• More and better treatments for cancer;
• Creation of a voluntary national research cohort;
• Commitment to protecting privacy;
• Regulatory modernization; and
• Public-private partnerships.

NIH’s Voluntary Research Cohort

In March of 2015, a PMI Working Group (“Group”) was organized by NIH to develop a framework for the volunteer cohort program. As an initial matter, the group was challenged to develop a framework for “creating and managing the voluntary research cohort to understand the variables that contribute to health and disease.”^[4] The Group’s report (The Precision Medicine’s Initiative Cohort Program – Building a Research Program for 21st Century Medicine, “Report” available here) was published in September of 2015 with the following recommendations:

• Cohort Assembly. The Group supported the initial goal to include one million diverse volunteers with the number of volunteers to increase over time. The volunteers should be required to share their health data, provide a biospecimen, and be available for future research. Two approaches were recommended for the recruitment of volunteers. First, any individual living in America may volunteer provided they consent to undertake a baseline health exam and provide a biospecimen. They also would be required to share available health data by either directing their electronic health record (EHR) data to the researchers and/or by undergoing an initial exam with a health care provider. Volunteers also must consent to be contacted for follow up. The second recommended approach would recruit volunteers by collaborating with healthcare provider organizations (HPOs).

• Participant Engagement. The Group recommended that the volunteer cohort be developed and allowed to contribute in all aspects of the cohort. Participants are recommended to have significant representation on governance and oversight committees. To ensure that participant-related interactions remain consistent throughout the cohort study, the Group recommended that activities related to engagement and communications be organized and managed by a central entity. Volunteers should get their individual results as well as information from the cohort aggregate. Volunteers also should be free to set preferences to dictate how much personal information they receive, and to be able to change their preferences throughout their participation in the study.

• Data Considerations. A combination of well-proven and innovative methods and technologies for data collection and management is noted by the Group to be necessary for successful development of the cohort program. To that end, the Working Group recommends that the initial core data set acquired from all cohort participants be collected and stored centrally and that this initial data set be aligned comparable core data sets where possible. The recommended initial core data set includes data from electronic health records, health insurance organizations, participant surveys, mHealth technologies, and biologic investigations, and would be expected to grow with time. Report at page 3. Existing data standards and common data models are recommended to be used where possible to normalize information from various platforms.

• Security. Data access control is recommended to ensure that the collected data is used responsibly and securely. Access will depend on the sensitivity of the data, from open-access to role-based access for more sensitive information. Report at page 4. Participants should have access to their own data where appropriate, but access could be denied if there are compelling concerns about potential harm that may arise from such access.

• Biospecimens. The collection and use of biological specimens is considered essential to the successful development of the cohort program. While there are many different types of tissue that could be collected, a new blood specimen is recommended as the initial specimen. The biological specimens should be sent to central biorepository, “which will support collection, processing, storage, retrieval and biochemical analysis and/or shipment to analytic laboratories.” Report at page 5.

• Policy considerations. The Report noted that the success and longevity of the cohort program would be influenced by the “laws, regulations, and policies surrounding research, data security and privacy, and access and interoperability” electronic health records” Report at page 4. One notable recommendation of the Group is the use of a single IRB to reduce administrative burden and associated costs of the cohort, review time, and to harmonize inconsistent or conflicting policies between different patient groups.

• Governance. The Group recommended that a director be appointed to lead the patient group. The director should “have authority to set short and long-term goals, develop solicitations and make award recommendations, and have authority over data sharing, storage, and use. Report at page 5. Also recommended is the creation of a Steering Committee of critical stakeholders led by a smaller Executive Committee and five subcommittees that would report to and the director. An Independent Advisory Board should also be created to provide external oversight for the patient cohort group.

NCI and Genetic Research

In August of 2015, the National Cancer Institute announced that it was focusing its PMI activities in for broad areas:^[5]

• Expanding Precision Medicine Clinical Trials. NCI announced that in partnership with both the public and private sectors, several precision medicine trials were initiated. An example of such is a clinical trial initiative that seeks to match patients with clinical trials, based on the genetic abnormalities in a patient’s tumors, regardless of the type of cancer they have.

• Overcoming Drug Resistance. NCI is increasing its support of research to address treatment resistance. This initiative is reported to involve:

o Using tumor profiling to better understand treatment resistance; and
o Establishing a repository of laboratory models derived from patient tumor samples to investigate drug resistance.

• Developing New Laboratory Models for Research. NCI will increase its efforts to develop new laboratory models of human cancer.

• Developing a National Cancer Knowledge System. NCI reported that a national database would be established to house and integrate genomic information from tumors with clinical response data (e.g., tumor shrinkage) and outcomes information (e.g., length of survival) as a resource for scientists, health care professionals, and patients.^[6]

Health Information Technology

In September of 2015, the Health Information Technology Standards Committee (HITSC) provided their recommendations to support of PMI. The group’s recommendations, outlined in their reporting letter, fell into four categories:

• Readily Applicable Standards for PMI – defined as standards that have been tested and implemented in the health IT market that can be put to use to support the NIH PMI cohort and precision medicine.
• Promising Standards for PMI – defined as standards that may require additional effort, including further pilots and testing, to support precision medicine.
• Standards Gaps for PMI – defined as areas where considerable additional standards development work is needed.
• Accelerators – identified as opportunities to advance and improve the standards that fell in the previous categories.

Food and Drug Administration

In December of 2015, FDA announced the launch of an online, cloud-based, portal that will allow interested stakeholders to collaborate and develop the applications of next-generation sequencing. As explained by FDA’s blog,

“The precisionFDA platform is a part of this larger effort and through its use we want to help scientists work toward the most accurate and meaningful discoveries. precisionFDA users will have access to a number of important tools to help them do this. These tools include reference genomes, such as “Genome in the Bottle,” a reference sample of DNA for validating human genome sequences developed by the National Institute of Standards and Technology. Users will also be able to compare their results to previously validated reference results as well as share their results with other users, track changes and obtain feedback.”

One Year Later — Much Done, Much More to Accomplish

In just one year, much has been accomplished to move the President’s initiative forward. An extensive framework has been created and associated funding and other support is being provided. We are at an exciting time for personalized medicine.

_{1. Remarks by the President in State of the Union Address, January 20, 2015, released by the White House Office of Press Secretary, available at https://www.whitehouse.gov/the-press-office/2015/01/20/remarks-president-state-union-address-january-20-2015.}

_{2. The Fact Sheet: President Obama’s Precision Medicine Initiative, released by the White House Office of Press Secretary, January 30, 2015, available at https://www.whitehouse.gov/the-press-office/2015/01/30/fact-sheet-president-obama-s-precision-medicine-initiative.}

_{3. Id.}

_{4. https://www.nih.gov/precision-medicine-initiative-cohort-program/pmi-working-group.}

_{5. NCI and the Precision Medicine Initiative, available at http://www.cancer.gov/research/key-initiatives/precision-medicine.}

_{6. Id.}