Title |
SMART on FHIR Genomics: facilitating standardized clinico-genomic apps
|
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Published in |
Journal of the American Medical Informatics Association, July 2015
|
DOI | 10.1093/jamia/ocv045 |
Pubmed ID | |
Authors |
Gil Alterovitz, Jeremy Warner, Peijin Zhang, Yishen Chen, Mollie Ullman-Cullere, David Kreda, Isaac S. Kohane |
Abstract |
Supporting clinical decision support for personalized medicine will require linking genome and phenome variants to a patient's electronic health record (EHR), at times on a vast scale. Clinico-genomic data standards will be needed to unify how genomic variant data are accessed from different sequencing systems. A specification for the basis of a clinic-genomic standard, building upon the current Health Level Seven International Fast Healthcare Interoperability Resources (FHIR®) standard, was developed. An FHIR application protocol interface (API) layer was attached to proprietary sequencing platforms and EHRs in order to expose gene variant data for presentation to the end-user. Three representative apps based on the SMART platform were built to test end-to-end feasibility, including integration of genomic and clinical data. Successful design, deployment, and use of the API was demonstrated and adopted by HL7 Clinical Genomics Workgroup. Feasibility was shown through development of three apps by various types of users with background levels and locations. This prototyping work suggests that an entirely data (and web) standards-based approach could prove both effective and efficient for advancing personalized medicine. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 11 | 50% |
India | 3 | 14% |
Germany | 1 | 5% |
United Kingdom | 1 | 5% |
Korea, Republic of | 1 | 5% |
Philippines | 1 | 5% |
Unknown | 4 | 18% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 13 | 59% |
Scientists | 4 | 18% |
Practitioners (doctors, other healthcare professionals) | 3 | 14% |
Science communicators (journalists, bloggers, editors) | 2 | 9% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | <1% |
United States | 1 | <1% |
Canada | 1 | <1% |
Unknown | 168 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 32 | 19% |
Student > Master | 25 | 15% |
Other | 18 | 11% |
Student > Ph. D. Student | 13 | 8% |
Professor > Associate Professor | 11 | 6% |
Other | 33 | 19% |
Unknown | 39 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Computer Science | 39 | 23% |
Medicine and Dentistry | 35 | 20% |
Biochemistry, Genetics and Molecular Biology | 13 | 8% |
Agricultural and Biological Sciences | 8 | 5% |
Nursing and Health Professions | 7 | 4% |
Other | 22 | 13% |
Unknown | 47 | 27% |