Clinical Genomics
Below is a list of the current products this work group is stewarding.
If you are looking for a specific product, you may wish to visit the Master grid of all standards to see the full list of HL7 products.
| Name | Description | Type |
|---|---|---|
| HL7 Domain Analysis Model: Clinical Genomics, Release1 |
The HL7 Domain Analysis Model: Clinical Genomics features use cases key to personalized genomic medicine and translational research, including more typical scenarios for testing of a person’s inherited or germline genome, cancer genomics/ tumor profiling, early childhood develo... |
Informative |
| HL7 Domain Analysis Model: Clinical Sequencing, Release 1 | This document develops a domain analysis model for various use cases in clinical genomics with an emphasis on clinical sequencing. The model describes and outlines a multitude of use cases and scenarios in which clinical sequencing testing is currently recommended (i.e. somatic testing) or in whi... |
Informative |
| HL7 FHIR® Implementation Guide: Clinical Genomics, Edition 3 | 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 presen... |
STU |
| HL7 Implementation Guide for CDA® Release 2: Genetic Testing Reports, Release 1 | The purpose of this CDA R2 Implementation Guide is to specify a standard for genetic testing reports, targeted at both human readability and machine processability. Genetic tests have recently become an important tool in clinical care that further personalizes the care processes based on the... |
DSTU |
| HL7 Version 2 Implementation Guide: Clinical Genomics; fully LOINC-Qualified Cytogenetic Model, Release 1 - US Realm | 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 HL... |
|
| HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model (US Realm) | 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 i... |
Informative |
| HL7 Version 3 Implementation Guide: Family History/Pedigree Interoperability, Release 1 | The HL7 Clinical Genomics Family Health History (Pedigree) Model is a data standard for capturing,within a system, and transmitting family histories between systems. This includes describing a patient’s full pedigree (family and familial relationships) with diseases and condit... |
Informative |
| HL7 Version 3 Standard: Clinical Genomics; Pedigree, Release 1 | The HL7 Clinical Genomics Pedigree Model is a data standard for transmitting family health histories between systems. This includes describing a patient’s full pedigree with diseases and conditions, and the option to link genetic data and risk analysis. The model has the abilit... |
Normative |