by Peter B. Nichol

Sync for Genes ignites genomics on FHIR

Mar 24, 2017
AnalyticsBig DataElectronic Health Records

Share your genomic information seamlessly. Sync for Genes lays the foundation for clinico-genomic apps to communicate clinical genomic data between EHR systems. Your access to portable genomic sequencing just got easier.

illustration of people networking all ages
Credit: Thinkstock

Precision medicine has the potential to improve disease treatment and prevention. Health Level Seven International (HL7) has facilitated several standards such as FHIR Genomics that envision improving outcomes by factoring in genetics and environmental context into patient care.

Sync for Genes is an Office of the National Coordinator for Health Information Technology (ONC) project to ease clinical genomics into the point of care.

The barrier to genomic communications

Public health desires functionality and usable workflows that can be distributed widely. Healthcare institutions search for improved ROI on their EHR investments by streamlining internal customizations. Healthcare providers and patients demand new capabilities that mash up clinical data to visualize the risks, trends and trajectories for future care. Each stakeholder has a different vision with a similar universal goal: to create a standard-based technology platform to enable seamless access to healthcare information to improve patient treatment and diagnosis.

How do we enable precision medicine at the point of care? Researchers plan to integrate clinical genomics into the point of care, in a model for precision medicine that could be applied not just throughout the United States but worldwide.

Leading the charge for cures

Sync for Genes is led by Gil Alterovitz, a Harvard Medical School professor, core faculty member at Boston Children’s Hospital and co-chair of HL7’s Clinical Genomics Work Group. He is also faculty affiliated with the Division of Health Sciences and Technology (HST) at Harvard and MIT.

Alterovitz has conducted extensive research on integrating genomics within healthcare settings as well as international collaborations involving genomics and clinical data integration. An internationally recognized author, Alterovitz published the book Systems Bioinformatics: An Engineering Case-Based Approach.

Alterovitz recently published a paper in the Journal of the American Medical Informatics Association titled “SMART on FHIR Genomics: Facilitating Standardized Clinico-genomic Apps” and offered additional research on genomic data access in another JAMIA paper titled “SMART Precision Cancer Medicine: An FHIR-based App to Provide Genomic Information at the Point of Care.” Sync for Genes is grounded in research focused on improving patient care with interoperability.

Sync for Genes, a research-driven initiative

Sync for Genes is complimentary to the Sync for Science initiative, part of the Precision Medicine Initiative (PMI). The PMI Cohort Program was recently rebranded in October 2016 to the All of Us Research Program, a participant-engaged, data-driven enterprise supporting research at the intersection of lifestyle, environment and genetics to produce new knowledge with the goal of developing more effective ways to prolong health and treat disease.

Sync for Genes pilots a universal format for sharing genomic information across the care continuum, leveraging HL7 FHIR communication infrastructures. Sync for Science pulls data out of the point of care. Sync for Genes seeks to enable technologies to pull data into the point of care to integrate clinical genomics for better patient care.

Genomics in the clinical setting

Integrating genetic information through the EHR, holds the key to the advancement of clinicians’ ability to move from supporting patients to protecting patients. Patients will be empowered through clinical decision support (CDS) driven by genomic testing. We’re not talking about alerts. That was yesterday. Modern CDS, with genomics, enhance health-related decisions, by applying organized clinical knowledge and patient information.

The SMART (Substitutable Medical Applications, Reusable Technologies) Genomics API project was originally developed at the Harvard Medical School’s Center for Biomedical Informatics as part of the ONC Strategic Health IT Advanced Research Projects program (SHARP). The objective of this project was to introduce a standard for access to genomics and served as a foundation for FHIR Genomics. The SMART genomics project did result in the JAMIA paper mentioned previously.

The establishment of this API will allow applications that utilize FHIR for diagnosis and treatment. Development of FHIR genomics will be a catalyst for future health-related applications. 

Sync for Genes use cases

The HL7 Domain Analysis Model for Clinical Sequencing was just published in February 2017 by the HL7 Clinical Genomics workgroup with Gil Alterovitz and Mollie Ullman-Cullere as principal authors. The publication includes a number of potential use cases within clinical genomics.

  1. Specimen identification: analysis of DNA, RNA and protein.
  2. Clinical sequencing: testing for DNA repair mutations.
  3. Cancer profiling: identification and clinical implication of mutations and the effect on different cancers.
  4. Decision-making tools (family history and drug dosage): coupling genetic sequencing with more traditional clinical methods leading to better decision-making through the utilization of family history tools, risk assessment tools and drug dosage calculators.
  5. Public health reporting: removing the need to translate clinical data into public reporting systems manually.
  6. Clinical and research data warehouses: reframing EHRs from presenting transactional data for one patient to view populations of similar patients.
  7. Cytogenetic market identification with sequencing: also known as karyotyping, investigating chromosome abnormalities our cell metaphase (standard genetic testing).
  8. Pharmacogenomics: improving the study of the ways in which genes impact a patient’s responses to drugs.
  9. States and regional health information exchanges (HIE): with the emergence of SaaS solutions, HIEs become an important part of an integrated care model to increase data interoperability of genetic and genomic data at the population level.
  10. Human leukocyte antigen (HLA) typing: enhancing detection of infectious disease and foreign pathogens.

Sync for Genes was likely inspired by the HL7 Domain Analysis Model for Clinical Sequencing. However, the official use cases have not been announced.

Linking genomic data to discover better cures

Vaccines were first introduced in 1796 and changed the world. Surgical anesthetics disconnected the pain of surgery in 1846. Radiologic imaging, beginning with the X-ray, transformed medical operations in 1895. Antibiotics forged a new generation of treatment in 1928. The successful organ transplantations of living tissues were introduced into humans in 1954 (kidney), 1967 (liver), 1967 (heart) and 1981 (lungs).

The 21st century will be defined by our ability to enable precision medicine at the point of care by sharing genomic information for the benefit of improving population health. Sync for Genes is prepared to do just that.