Precision medicine is an innovative approach to medical treatment that takes into account individual differences in people’s genes, environments, and lifestyles. The promise of precision medicine is delivering the right treatments, at the right time, to the right person. The potential of precision medicine is recognized at the highest levels of government. In his 2015 State of the Union address, former President Barack Obama launched the Precision Medicine Initiative (“PMI”), a bold new research effort to revolutionize health and the treatment of disease. Subsequently, Sylvia M. Burwell, Secretary of the U.S. Department of Health & Human Services (“DHHS”), announced the FY 2016 budget would include $215 million for the PMI, with $200 million of this to be used by the National Institutes of Health (“NIH”) to launch the All of Us program, a national cohort of a million or more Americans who volunteer to share genetic, clinical, and other data to improve research. The funds will also be used to invest in expanding current cancer genomics research and to initiate new studies on how a tumor’s DNA can inform prognosis and treatment choices.
The All of Us program intends to extend precision medicine to all diseases by building a national research cohort of 1 million or more U.S. participants. Many factors have converged to make now the right time to begin a program of this scale and scope — Americans are extremely engaged in improving their health and participating in health research, electronic health records have been widely adopted, genomic analysis costs have dropped significantly, data science has become increasingly sophisticated, and health technologies have become mobile. Among the scientific opportunities presented by All of Us is the ability to:
- develop ways to measure risk for a range of diseases based on environmental exposures, genetic factors and interactions between the two;
- identify sex-based differences in disease development;
- identify the causes of individual differences (including sex-based differences) in response to commonly used drugs (commonly referred to as pharmacogenomics);
- discover biological markers that signal increased or decreased risk of developing common diseases;
- use mobile health (mHealth) technologies to correlate activity, physiological measures and environmental exposures with health outcomes;
- develop new disease classifications and relationships;
- empower study participants with data and information to improve their own health; and
- create a platform to enable trials of targeted therapies.
Volunteers will contribute data in various ways, including donating blood samples, completing baseline physical exams and online health surveys, and sharing both existing electronic health records and mobile health data. This can be done directly via various smart phone applications developed by a Participant Technologies Center, or through participating medical centers. A Data and Research Center will acquire, organize, and provide secure access to volunteers’ health data, and the Mayo Clinic will manage a biobank of the biological specimens.
Because personal and sensitive data will be collected through All of Us, the program may present certain privacy and security concerns for sensitive patient data. To help mitigate these risks, on May 25, 2016, the White House unveiled the final data security framework for the program (“Framework”), along with commentary from the DHHS and the Department of Homeland Security. The Framework builds upon the PMI Privacy and Trust Principles previously released and provides risk management guidelines for all participating institutions. The Framework is based on the National Institute of Standards and Technology (“NIST”) Cybersecurity Framework and is designed to be adaptable and responsive to the needs of multiple participating organizations. Organizations can use the Framework to develop detailed implementation guidelines that address their specific data security needs. The goal is to take advantage of the rapid evolutions in medicine, research, and technology while still protecting participants’ information.
Although the Framework allows for flexibility in its implementation, it does set forth eight overarching guidelines to which participating organizations need to adhere. To ensure these eight guidelines are met, the Framework provides five steps: (1) identify an overall security plan that outlines roles and responsibilities of individuals related to the security of data; (2) protect their data through access control and training; (3) develop methods to detect potential breaches of security; (4) implement a plan to respond to and contain security incidents; and, finally, (5) implement plans for post-incident recovery.
The combination of advances in genetic discoveries, research tools, and data storage and processing technology, makes this an ideal time to realize meaningful improvements in personal clinical care. The promise of precision medicine is greater now than ever before.