CHICAGO (GenomeWeb) – Recently proposed data interoperability rules from the US Department of Health and Services (HHS) do not specifically mention genomics and barely reference precision medicine, but federal officials believe the regulations will support the practice of clinical genomics and omics research, including through the Sync for Genes program.
The complementary proposals, from the Centers for Medicare and Medicaid Services (CMS) and the Office of the National Coordinator for Health Information Technology (ONC) are meant to make clear that patients control their health data and make it easier for that data to flow between information systems. These plans represent a key step in implementing a provision in the 21st Century Cures Act that authorizes HHS to impose fines as high as $1 million per episode of "information blocking."
The 724-page ONC proposal defines information blocking, specifying that care providers, laboratories, payers, and other entities provide patients with access to all of their electronic health information at no cost, with a few exceptions, including for preventing medical harm. The 251-page CMS plan spells out enforcement procedures and calls on all private health insurers doing business with the Medicare and Medicaid agency to release data to their members.
"It's really a push for access to data and transparency both on the care delivery technology side as well as the health plan technology side," said Jon White, deputy national coordinator for health information technology within ONC, the federal agency tasked with promoting, planning, coordinating, and setting strategy for health IT and the exchange of health information.
Both documents were released at the start of the annual Healthcare Information and Management Systems Society (HIMSS) conference, held in mid-February. Neither explicitly discusses genomics, but omics data is included in the broad category of "electronic health information," according to CMS Administrator Seema Verma.
"Our goal is to create a record that's very complete for the patient, whether it's their lab data, [or] whether it's their genetic [data], if they want that," Verma said during a Feb. 12 press conference at HIMSS in Orlando, Florida. "At the end of the day, what we're focusing on is letting patients be in control of their data. If they want lab data, if they want genetic data, that's up to them, and they should drive it."
The agencies call for the use of standards that support the interoperability of genomic information, particularly the Fast Healthcare Interoperability Resources (FHIR) specification, which includes the FHIR Genomics component to facilitate interchange of machine-readable omics data.
In its proposal, ONC strongly implies the role that genomics data will play in both research and clinical settings. "Information blocking also prevents advances in biomedical and public health research, which require the ability to analyze information from many sources in order to identify public health risks, develop new treatments and cures, and enable precision medicine," that document says.
"When you talk about clinical data, genomic data is part of that," White added.
The proposals actually follow a model being tested in the Sync for Genes pilot program. Sync for Genes is an extension of a data standardization effort called Sync for Science, which itself is part of the National Institutes of Health's All of Us research program.
White said that both the ONC and CMS proposals were made on the same technological basis as Sync for Genes, namely standards-based application programming interfaces (APIs) to support data interchange and with authentication handled through patient portals.
To support Sync for Science, ONC, NIH, Harvard University, and four major electronic health records vendors worked together to build an API that authenticates patients through the OAuth 2.0 protocol and links systems following the FHIR standard.
When people register to participate in the Sync for Science pilot, they do so through the All of Us website or app, where they can direct exactly which data elements they want to share with researchers. "The idea is that the data will then move to the database being used for the All of Us research program," ONC Chief Scientist Teresa Zayas Cabán said.
If patients choose to join Sync for Genes, their genetic data gets shared with one of the six pilot sites, a number that will grow to 10 in a matter of weeks, according to Zayas Cabán. Each site expects to enroll 100 participants.
The ramp-up from the four initial Sync for Genes sites announced at the 2018 HIMSS conference comes after those sites and the vendors — Cerner, Epic Systems, eClinical Works, and Allscripts Healthcare Solutions — successfully demonstrated the ability to move genetic test results between sites and EHRs at a Health Level Seven International "codeathon" in January, Zayas Cabán said.
Expect ONC to issue a report on the current, second phase of Sync for Genes this summer, even as new work gets underway. Zayas Cabán indicated that the agency will soon help the participants transition to FHIR version 4, which came out last year.
"We're also looking at issues of semantic interoperability, so that will be the next step," she added. "That means developing data models to guide implementation of clinical genomics profiles [and] understanding how the data elements are categorized and the relationship between each other."
All the Sync for Genes data is going into a research center hosted at Vanderbilt University, where researchers will be able to request access to various cohorts. For now, those records are being kept separate from data that is part of Sync for Science, Zayas Cabán said.