ArticleJournal of the American Medical Informatics Association : JAMIA2023
Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.
Article in Journal of the American Medical Informatics Association : JAMIA, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Near-real-time whole-genome sequencing in hospital infection control: a narrative review.Infection · 2026Review
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- The application and challenges of ChatGPT in laboratory medicine.Advances in laboratory medicine · 2025Review
- Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementation.Journal of the American Medical Informatics Association : JAMIA · 2025Article
- Recommendations for Standardizing Nuclear Medicine Terminology and Data in the Era of Theranostics and Artificial Intelligence.Journal of nuclear medicine : official publication, Society of Nuclear Medicine · 2025Article
- Genomics on FHIR - a feasibility study to support a National Strategy for Genomic Medicine.NPJ genomic medicine · 2025Article
- Identifying and Optimizing Factors Influencing the Implementation of a Fast Healthcare Interoperability Resources Accelerator: Qualitative Study Using the Consolidated Framework for Implementation Research-Expert Recommendations for Implementing Change Approach.JMIR medical informatics · 2025Article
- Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.American journal of human genetics · 2025Article
- A framework for sharing of clinical and genetic data for precision medicine applications.Nature medicine · 2024Article
- PillHarmonics: An Orchestrated Pharmacogenetics Medication Clinical Decision Support Service.Applied clinical informatics · 2024Article
- Molecularly-Guided Cancer Clinical Trial Matching using FHIR and HL7 Clinical Quality Language: A Proof of Concept.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2024Article
- Applying an ELSI lens to real-world data and novel genomic insights for personalized mental healthcare.Frontiers in genetics · 2024Review
- Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.Learning health systems · 2023Article
- Creation of a structured molecular genomics report for Germany as a local adaption of HL7's Genomic Reporting Implementation Guide.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- Automated HL7v2 LRI informatics framework for streamlining genomics-EHR data integration.Journal of pathology informatics · 2023Article
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Authors and funding
20 authors.
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Abstract
objectiveEnabling clinicians to formulate individualized clinical management strategies from the sea of molecular data remains a fundamentally important but daunting task. Here, we describe efforts towards a new paradigm in genomics-electronic health record (HER) integration, using a standardized suite of FHIR Genomics Operations that encapsulates the complexity of molecular data so that precision medicine solution developers can focus on building applications. MATERIALS AND
methodsFHIR Genomics Operations essentially "wrap" a genomics data repository, presenting a uniform interface to applications. More importantly, operations encapsulate the complexity of data within a repository and normalize redundant data representations-particularly relevant in genomics, where a tremendous amount of raw data exists in often-complex non-FHIR formats.
resultsFifteen FHIR Genomics Operations have been developed, designed to support a wide range of clinical scenarios, such as variant discovery; clinical trial matching; hereditary condition and pharmacogenomic screening; and variant reanalysis. Operations are being matured through the HL7 balloting process, connectathons, pilots, and the HL7 FHIR Accelerator program. DISCUSSION: Next-generation sequencing can identify thousands to millions of variants, whose clinical significance can change over time as our knowledge evolves. To manage such a large volume of dynamic and complex data, new models of genomics-EHR integration are needed. Qualitative observations to date suggest that freeing application developers from the need to understand the nuances of genomic data, and instead base applications on standardized APIs can not only accelerate integration but also dramatically expand the applications of Omic data in driving precision care at scale for all.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.