HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1 - US Realm

DESCRIPTION

The HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1 - US Realm details structuring cytogenetics test results into the electronic health record utilizing HL7 version 2.5.1. This implementation guide is modeled after the HL7 Version 2.5.1 Implementation Guide: Orders And Observations; Interoperable Laboratory Result Reporting To EHR (US Realm), Release 1, and covers the reporting of cytogenetics results for constitutional cytogenetic tests. Cytogenetics is a specialty of genetic testing. Cytogenetics evaluates whole chromosomes from the nucleus of the cell for changes in number or structure.

ALTERNATIVE NAMES

HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1 - US Realm may also go by the following names or acronyms:

TARGETS

• Clinical and Public Health Laboratories
• Pharmaceutical
• EHR, PHR
• Lab Vendors
• Local and State Departments of Health
• Healthcare Institutions (hospitals, long term care, home care, mental health)

BENEFITS

• Facilitates the electronic transmission of cytogenetic testing results and interpretations from Cytogenetic testing laboratories to medical practitioners, electronic health records, personal health records and associated clinical decision support systems able to receive and process such information
• Facilitates the electronic transmission of cytogenetic testing results and interpretations from Cytogenetic testing laboratories to drug and medical device companies that have ordered such information as part of a clinical trial
• Facilitates the electronic transmission of cytogenetic testing results and interpretations fromDrug and medical device companies to regulatory agencies that need to review such information as part of a new drug or device marketing application
• Enables data from a cytogenetic test result performed in a lab to be transmitted and stored in the patient’s electronic health record in a coded and structured format.
• Allows for clinical decision support rules to be created combining genomic data with clinical and family health history data
• Enables the inclusion of structured cytogenetic data in clinical data warehouses (with other clinical data) or creation of clinical genomic data warehouses
• Enables current users of Version 2 that need 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, CDA) to use the fully LOINC-qualified portion of the message (LOINC codes) included in this guide for structured transmission of cytogenetic findings and clinical associations (interpretations)

DEVELOPMENT BACKGROUND

Coded and structured clinical cytogenetic 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. 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 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).

 

In a prenatal and newborn screening clinical setting, chromosome abnormalities account for a large proportion of cases involving individuals referred with congenital malformations, developmental delay, mental retardation, or infertility; women with gonadal dysgenesis; spontaneous abortion, and couples with repeated miscarriages. Additionally, the field of cytogenetics is important in the diagnosis and workup of patients with hematologic/oncologic disorders, affecting both germline and somatic DNA.

 

Cytogenetic testing in this area is used for diagnosis, classification of disease, determining treatment regimens, and to monitor disease status and recovery. Along with genetic/genomic sequencing, cytogenetics is another method used to identify patients with high risk of disease.

RELATED DOCUMENTS

HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1 - US Realm

(Download) (455 KB)

TOPICS

• Clinical Genomics
• Laboratory

STATUS DATE

2014-07-23

RESPONSIBLE WORK GROUP

STAKEHOLDERS

• Clinical and Public Health Laboratories
• Healthcare Institutions
• Lab Vendors
• Local and State Departments of Health

FAMILY

• V2

CURRENT STATE

• Stable

REALM

• US Realm