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Section 1c: FHIR®
Section 3: Implementation Guides

HL7 FHIR® Implementation Guide: Clinical Genomics, Edition 3

DESCRIPTION

Genomics is a rapidly evolving area of healthcare that involves complex data structures. There is significant value in sharing this information in a way that is consistent, computable and that can accommodate ongoing evolution of medical science and practice. At present, this implementation guide focuses solely on data structures - what data should be/might be present and how it should be organized. It does not address workflows around how reports are requested, created, approved, routed, delivered, amended, etc.

 

See the specification at http://hl7.org/fhir/uv/genomics-reporting/STU3

ALTERNATIVE NAMES

HL7 FHIR® Implementation Guide: Clinical Genomics, Edition 3 may also go by the following names or acronyms:

"HL7 FHIR® IG: CG, R1",genomics, genetics, dna, variant,GenomicsReporting IG,Genomics Reporting Implementation Guide, CG IG

BENEFITS

  • Supports genomics-EHR integration and interoperability
  • Creates the opportunity for structured reporting of genomic results between a lab and an EHR
  • Enables automated and unambiguous queries to knowledge sources that can provide variant annotations using precise representation of genomic variants
  • Provides guidance on using FHIR Operations to deliver standard/normalized genetic variation information.

 

IMPLEMENTATIONS/CASE STUDIES

  • National Marrow Donor Program® (NMDP)
  • Intermountain Healthcare
  • MOLIT Institut
  • Childrensmercy
  • elimu Informatic
  • Baylor College of Medicine

DEVELOPMENT BACKGROUND

RELATED DOCUMENTS

HL7 FHIR® Implementation Guide: Clinical Genomics, Edition 3

STU DOCUMENTS

HL7 FHIR® Implementation Guide: Clinical Genomics, Edition 3 See the standard at http://hl7.org/fhir/uv/genomics-reporting/STU3. (Submit Feedback on STU)
HL7 FHIR® Implementation Guide: Clinical Genomics, Release 1 STU2 See the standard at http://hl7.org/fhir/genomics-reporting/STU2. Expiration May 2024
HL7 FHIR® Implementation Guide: Clinical Genomics, Release 1 Please see the resource detail for link and download instructions. Expiration Sep 2021

TOPIC

  • Clinical Genomics

BALLOT TYPE

  • STU

STATUS DATE

2024-12-12

RESPONSIBLE WORK GROUP

Clinical Genomics

PRODUCT TYPE

  • Implementation Guide

STAKEHOLDERS

  • Clinical and Public Health Laboratories
  • Clinical Decision Support Systems Vendors
  • EHR, PHR Vendors
  • Healthcare Institutions
  • Lab Vendors

FAMILY

  • FHIR

CURRENT STATE

  • Active

REALM

  • Universal