The increasing availability of electronic health data in the 21st century has tremendous potential to ignite a new era of inquiry and discovery. ONC is part of the Precision Medicine Initiative (PMI), a federal effort to spur the next generation of health research by rethinking access, aggregation, storage, and analysis of many kinds of health and health-related data. With precision medicine, researchers will be able to make new discoveries about health and illness to bring a more personalized approach to patient care.

ONC works closely with PMI collaborators to enhance the health IT infrastructure by:

• Supporting pilot projects and standards to improve health IT interoperability for research;
• Adopting policies and standards to support privacy and security of participant data; and
• Advancing standards that support participants’ decisions to share their data with researchers.

All of Us Research Program

In particular, ONC collaborates with the National Institutes of Health (NIH) All of Us Research Program (All of Us). The program aims to engage a diverse group of 1 million or more U.S. volunteers in a long-term research effort to transform our understanding of factors that contribute to health and disease. Participants are asked to fill out online surveys about their health and share their electronic health record (EHR) data. Many participants are also invited to provide biosamples (e.g., blood, saliva) and have physical measurements taken.

All of Us will provide genotyping and whole-genome sequencing for many participants and begin returning those results to participants who choose to receive them. The program also plans to gather information from wearable devices, and they have already started through a pilot project with Fitbit. These efforts will eventually generate vast amounts of data for research. The program stores and manages these data at Vanderbilt University Medical Center, where informaticist Robert Carroll and colleagues have an inside look at the challenges and opportunities for curating health data so it is easier for researchers to use.

Interoperability Will Make This Program Possible

Making electronic health information easy to transfer among individuals, providers, and researchers is fundamental to assembling a program as large as All of Us, returning results to participants, and analyzing the data to make new discoveries. However, these transfers are only possible if different data types are interoperable—that is, connected by data standards.

ONC leads several collaborative projects to make interoperability for health research a reality:

• Sync for Science: A pilot project with six health IT developers to allow individuals to access their health data and share it with researchers via consumer applications.
• Sync for Genes: A partnership with NIH to standardize the sharing of genomic data and information among laboratories, providers, patients, and researchers.
• Advancing Standards for Precision Medicine: An effort to standardize data types often found outside the care delivery system that are critical for precision medicine, such as data from wearable devices and sensors and data related to social determinants of health.

Data standards and common data models are key to the success of an ambitious effort like All of Us. The adoption of the HL7® Fast Healthcare Interoperability Resources® (FHIR®) standard, the Observational Medical Outcomes Partnership (OMOP) Common Data Model, and Sync for Science have enabled clear, reliable data collection. All of Us is using FHIR to transmit survey and physical measurements data, OMOP to bring in vast quantities of EHR data from program enrollment sites, and Sync for Science, which leverages FHIR as a pilot mechanism to intake EHR data from a broader range of health systems through their direct volunteer pathway.

Privacy & Security is a Top Priority

For several years, ONC has been examining privacy and security principles in precision medicine and the broader application programming interface (API) ecosystem. APIs can be instrumental in ensuring that health information moves in a secure, computable format between patients, health care providers, and research organizations. The resources below can help ensure privacy and security safeguards are in place as organizations share electronic health information and implement and maintain APIs:

• Sync for Science API Privacy & Security: This report highlights key security and privacy considerations for healthcare APIs.
• PMI Data Security Principles Implementation Guide: This guide helps organizations that use patient data for research with security and data management.

Looking Ahead

All of Us is well on its way to 1 million: As of February 23, 2020, more than 335,000 participants have consented, and more than 75 percent have completed the initial steps of the program. Behind the scenes, the All of Us Data and Research Center ensures data is accessible, useful for research, and available with supporting tools to empower researchers.

As All of Us looks to integrate novel data types and sources, the development, adoption and use of data standards will make it easier for research participants to access and share their health data, stimulate innovative tools for research, and allow researchers to reveal new insights and discoveries. Ultimately, we can shift healthcare toward treatment and prevention strategies that are tailored to each person’s unique characteristics.

PMI weaves together the best aspirations of medicine, science, and technology to propose a radical shift in the way we study and improve health. By learning from past success and leveraging the most recent innovations, PMI aims to empower researchers to answer challenging questions—and think of entirely new ones. ONC’s projects are integral to bringing together diverse participants, smart data, powerful tools, and multidisciplinary researchers to make medicine more personal.

— Robert Carroll, PhD

Over the coming months, we’ll be sharing more about ONC’s ongoing PMI projects. We encourage you to check back for more updates and insight related to Advancing Standards for Precision Medicine, Sync for Genes, and Sync for Science.