FHIR Genomics: enabling standardization for precision medicine use cases

NPJ Genom Med. 2020 Mar 18:5:13. doi: 10.1038/s41525-020-0115-6. eCollection 2020.

Authors

Gil Alterovitz^{1

2}, Bret Heale³, James Jones¹, David Kreda⁴, Fan Lin^{1

5}, Lei Liu¹, Xin Liu¹, Kenneth D Mandl^{1

6}, David W Poloway¹, Rachel Ramoni⁷, Alex Wagner⁸, Jeremy L Warner⁹

Affiliations

¹ 1Computational Health Informatics Program, Boston Children's Hospital, Boston, MA USA.
² 2Harvard/MIT Division of Health Sciences and Technology, Harvard Medical School, Boston, MA USA.
³ 3Intermountain Healthcare, Salt Lake City, UT USA.
⁴ 4Center for Biomedical Informatics, Harvard Medical School, Boston, MA USA.
⁵ 5Xiamen University, School of Software, Xiamen, Fujian China.
⁶ 6Departments of Pediatrics and Biomedical Informatics, Harvard Medical School, Boston, MA USA.
⁷ 7Partners HealthCare, Boston, MA USA.
⁸ 8Division of Oncology, Washington University School of Medicine, St. Louis, MO USA.
⁹ 9Departments of Biomedical Informatics and Medicine, Vanderbilt University, Nashville, TN USA.

Abstract

The development of Fast Healthcare Interoperability Resources (FHIR) Genomics, a feasible and efficient method for exchanging complex clinical genomic data and interpretations, is described. FHIR Genomics is a subset of the emerging Health Level 7 FHIR standard and targets data from increasingly available technologies such as next-generation sequencing. Much care and integration of feedback have been taken to ease implementation, facilitate wide-scale interoperability, and enable modern app development toward a complete precision medicine standard. A new use case, the integration of the Variant Interpretation for Cancer Consortium (VICC) "meta-knowledgebase" into a third-party application, is described.

Keywords: Clinical genetics; Data processing; Genomics; Health policy; High-throughput screening.

Abstract

Grants and funding