HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model (US Realm)

DESCRIPTION

This Implementation Guide details structuring genetic test results into the electronic health record or systems for translational medicine, utilizing HL7 version 2.5.1. Data structure enables clinical decision support and clinical analytics.   This work is modeled after the Laboratory Result Reporting To EHR Implementation Guide, it covers the reporting of genetic test results for sequencing and genotyping based tests where identified DNA variants are located within a gene. The guide has been extended in Release 2 to support codified transmission of large genetic profiling result sets (using genotyping technology), details of commercially available gene chips, and  genetic test definition.

ALTERNATIVE NAMES

HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model (US Realm) may also go by the following names or acronyms:

TARGETS

• Clinical and Public Health Laboratories
• Regulatory Agencies
• Pharmaceutical Vendors
• EHR, PHR Vendors
• Health Care IT Vendors
• Clinical Decision Support Systems Vendors
• Lab Vendors
• HIS Vendors
• Medical Device Companies
• Healthcare Institutions (hospitals, long term care, home care, mental health)

BENEFITS

• Facilitates the electronic transmission of genetic testing results and interpretations from –
  • Genetic testing laboratories to medical practitioners, electronic health records, personal health records and associated clinical decision support systems able to receive and process such information
  • Genetic testing laboratories to drug and medical device companies that have ordered such information as part of a clinical trial
  • Drug and medical device companies to regulatory agencies that need to review such information as part of a new drug or device marketing application
• Enables fully electronic communication between interested parties in personalized medicine
• Enables transmission of these findings and their clinical implications as genetic associations to disease risk/confirmatory diagnosis, drug metabolism, and pharmacogenomic drug efficacy association for tumor mutations.
• Enables creation of clinical decision support rules combining genomic data with clinical and family health history data from a genetic test result performed in a lab which has been transmitted and stored in the patient’s electronic health record in a coded and structured format
• Enables the creation of clinical genomic data warehouses and clinical analytics
• Allows current users of Version 2 an implementation guide based on established lab messaging specifications for transmission of laboratory genetic test results to the electronic health record
• Enables implementers of other HL7 message formats (e.g. CCD and CDA) to use the fully LOINC-qualified portion of the message (LOINC codes) included in this guide for structured transmission of genetic findings and clinical associations (interpretations)

IMPLEMENTATIONS/CASE STUDIES

• A message consistent with this model has been piloted for 5+ years transmitting genetic test results between the Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine (formerly the Harvard – Partners Center for Genetics and Genomics) and Partners Healthcare’s electronic medical record. Within Release 2, the model was further extended to reflect lessons learned from additional pilots
• The information model detailed within this implementation guide has been piloted by the following organizations –
  • Genetic Testing Laboratories:
    • Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine (formerly Harvard – Partners Center for Genetics and Genomics), Cambridge, MA
    • ARUP University of Utah, Salt Lake City, UT
    • Center for Advanced Molecular Diagnostics, Brigham and Women’s Hospital, Boston MA
    • Center for Cancer Genomic Discovery, Dana-Farber Cancer Institute, Boston MA
  • Receiving Provider Electronic Medical Records:
    • Partners Healthcare, Boston, MA
    • Intermountain Healthcare, Salt Lake City, UT
  • Systems for Discovery Research, including results viewer, research data warehouse, and analytics:
    • Dana-Farber Cancer Institute, Boston MA

DEVELOPMENT BACKGROUND

Coded and structured clinical genetic test results are key for clinical decision support in the electronic health record, augmentation of patient data in clinical data warehouses, research studies, clinical trials, etc. The guide includes example data messages of mutations found in single or multi-gene tests. For transmission of genetic test results, the HL7 Version 2 Implementation Guide uses models for already established standards for transmission of laboratory test results. Data modelers from commercial software vendors, healthcare systems, and research groups contributed to the development. The model has been piloted in a live environment. The model was designed to support the Personalized Healthcare Use Case that was developed by the U.S. Office of the National Coordinator for Health Information Technology (ONC).

 

RELATED DOCUMENTS

HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model (US Realm)

(Download) (450 KB)

TOPICS

• Clinical Genomics
• Laboratory

BALLOT TYPE

• Informative

STATUS DATE

2013-03-14

RESPONSIBLE WORK GROUP

STAKEHOLDERS

• Clinical and Public Health Laboratories
• EHR, PHR Vendors
• Health Care IT Vendors
• Healthcare Institutions
• Lab Vendors
• Pharmaceutical Vendors

FAMILY

• V2

CURRENT STATE

• Stable

REALM

• US Realm