Sync for Genes ignites genomics on FHIR

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.

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 papermentioned 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.

Peter B. Nichol, empowers organizations to think different for different results. You can follow Peter on Twitter or his personal blog Leaders Need Pancakes or Peter can be reached at pnichol [dot]

Peter is the author of Learning Intelligence: Expand Thinking. Absorb Alternative. Unlock Possibilities (2017), which Marshall Goldsmith, author of the New York Times No. 1 bestseller Triggers, calls “a must-read for any leader wanting to compete in the innovation-powered landscape of today.”

Peter also authored The Power of Blockchain for Healthcare: How Blockchain Will Ignite The Future of Healthcare (2017), the first book to explore the vast opportunities for blockchain to transform the patient experience.

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Peter is a technology executive with over 20 years of experience, dedicated to driving innovation, digital transformation, leadership, and data in business. He helps organizations connect strategy to execution to maximize company performance. He has been recognized for Digital Innovation by CIO 100, MIT Sloan, Computerworld, and the Project Management Institute. As Managing Director at OROCA Innovations, Peter leads the CXO advisory services practice, driving digital strategies. Peter was honored as an MIT Sloan CIO Leadership Award Finalist in 2015 and is a regular contributor to on innovation. Peter has led businesses through complex changes, including the adoption of data-first approaches for portfolio management, lean six sigma for operational excellence, departmental transformations, process improvements, maximizing team performance, designing new IT operating models, digitizing platforms, leading large-scale mission-critical technology deployments, product management, agile methodologies, and building high-performance teams. As Chief Information Officer, Peter was responsible for Connecticut’s Health Insurance Exchange’s (HIX) industry-leading digital platform transforming consumerism and retail-oriented services for the health insurance industry. Peter championed the Connecticut marketplace digital implementation with a transformational cloud-based SaaS platform and mobile application recognized as a 2014 PMI Project of the Year Award finalist, CIO 100, and awards for best digital services, API, and platform. He also received a lifetime achievement award for leadership and digital transformation, honored as a 2016 Computerworld Premier 100 IT Leader. Peter is the author of Learning Intelligence: Expand Thinking. Absorb Alternative. Unlock Possibilities (2017), which Marshall Goldsmith, author of the New York Times No. 1 bestseller Triggers, calls "a must-read for any leader wanting to compete in the innovation-powered landscape of today." Peter also authored The Power of Blockchain for Healthcare: How Blockchain Will Ignite The Future of Healthcare (2017), the first book to explore the vast opportunities for blockchain to transform the patient experience. Peter has a B.S. in C.I.S from Bentley University and an MBA from Quinnipiac University, where he graduated Summa Cum Laude. He earned his PMP® in 2001 and is a certified Six Sigma Master Black Belt, Masters in Business Relationship Management (MBRM) and Certified Scrum Master. As a Commercial Rated Aviation Pilot and Master Scuba Diver, Peter understands first hand, how to anticipate change and lead boldly.