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Sync for Genes Takes First Steps Towards Integrating Genomic Data at the Point of Care

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NEW YORK (GenomeWeb) – A newly launched federally funded initiative called Sync for Genes seeks to standardize methods for communicating genomic information from next-generation sequencing and other tests to clinicians and patients in a usable and consistent manner.

"[We have this] leading edge technology [but] you see people getting [genomic data] in pdf reports or faxes because there really is no good standard," said Gil Alterovitz, director of Harvard Medical School's Biomedical Cybernetics Laboratory and project lead for the initiative. Sync for Genes aims to provide a format for "making this information available to anyone who is permitted to access it."

Sync for Genes, which includes the Office of the National Coordinator for Health Information Technology as a participant, is one of several activities under the umbrella of the Precision Medicine Initiative cohort program, now called the All of Us research program. It is an extension of the Sync for Science program, which launched last year to provide open, standardized applications through which individuals can contribute their data to research. The initiative was discussed in a number of talks at the annual Healthcare Information and Management Systems Society annual conference last month, according to Alterovitz.

Investigators in the Sync for Genes initiative plan to leverage existing standards to deliver genomic information to electronic medical record systems more effectively. Specifically, they'll use the Fast Healthcare Interoperability Resources (FHIR), a standard developed by Health Level Seven International (HL7), a nonprofit standards development organization, to exchange healthcare information electronically. They'll use a component developed for the FHIR standard called FHIR Genomics, which provides resources for integrating clinical genomic information to provide better patient care via point-of-care apps and patient-facing apps, as well as for clinical research and analysis.

Alterovitz also leads efforts to develop the FHIR Genomics standard. It is essentially an implementation of a genomics application programming interface that he and others developed for Harvard's Substitutable Medical Applications, Reusable Technologies (SMART) platform, an open, standards-based health IT platform. The so-called SMART Genomics API offers a means of classifying and packaging genomic information for clinical use. Full details of the method were published in the Journal of Informatics in Health and Biomedicine in 2015.

The move made logical sense since FHIR already offers standards for communicating other kinds of information related to patient care. The idea was that if "we put this into FHIR in a way that was really seamless with it, you would have the clinical and genomics [data] all in one place," Alterovitz said. If both FHIR and FHIR Genomics are adopted more broadly, clinical organizations can generate data in the same format, which would simplify access for research use as well as at the point of care. "It is about enabling that information to be made available, including the security around it, so that way whoever is given permission to access it can access it," he said.

The most recent iteration of the FHIR Genomics standards was deemed "substantially complete and ready for implementation" last December by HL7's standards body and its clinical genomic workgroup, Alterovitz said. This iteration is currently being implemented in five pilot projects launched about a month ago to test methods of sharing genomic information in clinical contexts as part of the Sync for Genes initiative.

Sync for Genes' organizers plan to disclose details about the pilot sites and projects at a later date. Alterovitz did say that the pilots focus on incorporating next-generation sequencing data into research cohort databases as well as on ways to put this information into the hands of patients and providers. "Whenever you deal with interoperability, you have to reach a consensus among many different players and so [we are] working with the different stakeholders [and] making sure that [we] satisfy all the needs of all the stakeholders," he said. Also, "you want you make sure that you implement a standard in a consistent way [so] that it is done consistently across different organizations."

Paul Sonnier, founder of the LinkedIn group Digital Health, which has over 50,000 members, and creator of the website Story of Digital Health, echoed similar sentiments. "The challenge is both understanding and knowing what solutions are out there, and then of course integrating those into practice," said Sonnier, who is not affiliated with the Sync for Genes initiative. "For EMRs and EHRs in general, interoperability is a major problem across the industry that has not been adequately addressed. So, there's definitely a need for what Sync for Genes is doing."

The pilots offer an opportunity to improve the FHIR Genomics standard,  Alterovitz said. As his team receives feedback from different pilots and stakeholders, including laboratories, providers, governments, vendors, patients, and coordinators, "we hope to integrate that into future versions of FHIR and the genomics component."

The organizers are not disclosing how much funding Sync for Genes is receiving and they are not revealing details about specific goals for the initiative. Alterovitz did say that in selecting the pilot projects, the organizers drew on clinical genomics use cases described in the first release of the HL7 Domain Analysis Model: Clinical Sequencing document, which was published last month. "We want to make sure that genomic information is exposed in a useful way [and] in a way that conforms to the FHIR Genomics standard," he said. "[We have] a set of tasks and items that need to be done, and working with the pilots, [we] are seeking to make sure that we reach those goals."

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