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Section 1e: Version 3 (V3)
Section 2: Clinical and Administrative Domains
Section 4: Rules and References

HL7 Domain Analysis Model: Clinical Sequencing, Release 1

DESCRIPTION

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 which patient genomics can be pertinent for clinical or commercial decision making (i.e. trial feasibility). Relevant stakeholders, standards, and workflow diagrams help to practically illustrate the testing and decision making process and the manner in which orders and information is exchanged between patients, clinicians, laboratory technicians, geneticists, EHR, government agencies, etc. The document further discusses the current and future challenges associated with the implementation and utilization of clinical genomics, and the intent of the document is to inform standards developers for the design of interoperable solutions to these challenges and use cases.

ALTERNATIVE NAMES

HL7 Domain Analysis Model: Clinical Sequencing, Release 1 may also go by the following names or acronyms:

"HL7 Domain Information Model: Clinical Genomics, Release 1", CG DAM, CG DIM

BENEFITS

  • Facilitates the development and extension of interoperable healthcare IT standards that are consistent with current, practical methodologies and applications of clinical genomics

IMPLEMENTATIONS/CASE STUDIES

  • Boston Children’s Hospital- Harvard Medical School
  • Partners Healthcare
  • National Marrow Donor Program
  • Mayo Clinic

DEVELOPMENT BACKGROUND

In 2008, the United States Department of Health and Human Services, Office of the National Coordinator for Health IT published the Personalized Healthcare Detailed Use Case which focused on supporting access to electronic genetic laboratory results and interpretations. Members of the Clinical Genomics Work Group have worked towards fostering interoperability by developing IT standards since 2002, and continue to do so today. Much has changed since 2008, and the need to outline a compilation of the scenarios, use cases, and methodologies currently in clinical use has led to the development of this document.

RELATED DOCUMENTS

HL7 Domain Analysis Model: Clinical Sequencing, Release 1

(Download) (2.63 MB)

TOPIC

  • Clinical Genomics

BALLOT TYPE

  • Informative

STATUS DATE

2022-04-05

RESPONSIBLE WORK GROUP

Clinical Genomics

PRODUCT TYPE

  • Domain Analysis Model

FAMILY

  • V3

CURRENT STATE

  • Stable

REALM

  • Universal
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