Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.
J Am Med Inform Assoc
; 30(3): 485-493, 2023 02 16.
Article
in En
| MEDLINE
| ID: mdl-36548217
ABSTRACT
OBJECTIVE:
Enabling 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 ANDMETHODS:
FHIR 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.RESULTS:
Fifteen 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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genomics
/
Electronic Health Records
Type of study:
Prognostic_studies
/
Qualitative_research
Language:
En
Journal:
J Am Med Inform Assoc
Journal subject:
INFORMATICA MEDICA
Year:
2023
Document type:
Article
Affiliation country:
Estados Unidos
Publication country:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM