The Precision Medicine Era is Dawning
Teresa Zayas Cabán, PhD and Kevin Chaney, MGS | April 11, 2017
The Precision Medicine Initiative (PMI) will usher in an era of individualized health care. PMI will advance the nation’s ability to accelerate scientific discovery and improve clinical care through an innovative approach that takes into account individual differences in people’s genes, environments, and lifestyles. Put simply, PMI will enable us to better predict which treatments will be most effective for which patients – and health information technology (health IT) is foundational to achieving its promise. The 21st Century Cures Act, signed into law in December 2016, provides targeted resources for NIH to expand PMI, find cures, and better tailor treatments to the individual needs of patients.
The Office of the National Coordinator for Health Information Technology (ONC) is excited to collaborate with the National Institutes of Health (NIH), the Food and Drug Administration, the Office for Civil Rights (OCR), the Department of Defense, and the Department of Veterans Affairs on this endeavor so that technology can be used to facilitate the safe and secure access and sharing of data across the PMI. That includes the one million volunteers who will be donating their physical, genomic, and electronic health record (EHR) -based clinical data to the NIH All of Us Research Program.
To advance the goals of PMI, over the past year ONC, in partnership with NIH, launched three separate but related activities assisting in making this ambitious vision a reality: Sync for Science (S4S), S4S Privacy and Security, and Sync for Genes. And to help organizations adapt the PMI Security principles to their own requirements, ONC released the PMI Security Principles Implementation Guide developed in collaboration with OCR and the National Institute of Standards and Technology (NIST). The Implementation Guide provides a use case to demonstrate how the PMI Data Security Principles could be applied.*
Sync for Science (S4S) Sites Announced
Harvard Medical School and four leading EHR companies are developing, testing, and implementing application programming interface (API) endpoints within patient portals at selected care provider sites. Participants from those sites will be able to use an application to securely access and share EHR-based clinical data with the All of Us Research Program. Eventually, as the program expands beyond the pilot sites, more participants will be able to share EHR-based clinical data via S4S with the All of Us Research Program and, eventually, other research studies.
S4S API Privacy and Security
In this new era, securing the electronic platforms that support sharing data with PMI is paramount. Data is a foundational underpinning of PMI, and participants should have confidence that data about them are securely shared according to their preferences. ONC, in collaboration with NIH, is leading S4S Privacy and Security to independently assess whether S4S API pilots implement appropriate privacy and security principles, verify and validate necessary safeguards, and provide privacy and security tips to facilitate participants’ sharing of EHR-based clinical data with the All of Us Research Program via the S4S API.
Sync for Genes Pilots Launched
Genomic data sharing is critical to PMI and the next impetus of genetic research by a new wave of researchers. Sync for Genes will strengthen genomic data sharing, including data from next generation sequencing (NGS) laboratories, in a consistent and usable way via point-of-care applications. In January 2017, five pilot groups representing a variety of organizations covering specific facets of genomic data began leveraging and testing enhancements to the HL7 Clinical Genomics Workgroup Group suite of standards developed as part of the Sync for Genes effort.
The five pilot groups and focus are:
- Counsyl with Intermountain Healthcare (Family Health History Genetics);
- Food and Drug Administration (Sequencing Quality and Regulatory Genomics);
- Foundation Medicine with Vanderbilt University Medical Center (Somatic/Tumor Testing);
- Illumina (NGS Sequencing Solutions); and
- National Marrow Donor Program/Be The Match (Tissue Matching)
Feedback from the pilots will used by Sync for Genes to ensure the development of open source validation scripts and implementation guidance documents to support needs in the field of genomics for others to utilize. Ultimately, Sync for Genes will create a foundation for widespread use of genomic data to be shared in the All of Us Research Program and future studies.
What’s Next in the New Era?
ONC looks forward to making the PMI vision a reality by supporting health care research and delivery through interoperable health IT. These projects are just a few examples of how ONC, working together with federal and industry stakeholders, can accelerate innovation through pilots and testing and advancing standards.
*Organizations involved in PMI research can find additional cybersecurity resources at the ONC, OCR, and NIST websites.
Precision Medicine Initiative, PMI, All of Us, the All of Us logo, and The Future of Health Begins With You are service marks of the U.S. Department of Health and Human Services.