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

HL7 Domain Analysis Model: Clinical Genomics, Release1

DESCRIPTION

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 developmental delay, neonatal testing, and newborn screening. The focus is on use cases that can be found in practice at some locations clinically today. In addition, each use case may nclude several alternative scenarios and workflows that are shown for comparison.

ALTERNATIVE NAMES

HL7 Domain Analysis Model: Clinical Genomics, Release1 may also go by the following names or acronyms:

"HL7 DAM: Clinical Genomics, Release 1", CG DAM

TARGETS

  • Clinical and Public Health Laboratories
  • Immunization Registries
  • Quality Reporting Agencies
  • Regulatory Agency
  • Pharmaceutical Vendors
  • EHR, PHR Vendors
  • Equipment Vendors
  • Health Care IT Vendors
  • Clinical Decision Support Systems Vendors
  • Lab Vendors
  • Emergency Services Providers
  • Local and State Departments of Health
  • Medical Imaging Service Providers
  • Healthcare Institutions (hospitals, long term care, home care, mental health)

 

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

The HL7 Domain Analysis Model: Clinical Sequencing cataloged the breadth of genetic/genomic testing use cases and clinical scenarios with focus on clinical sequencing, drawing use cases from a number of stakeholders. It  discussed current challenges and lessons learned, and raises questions to consider for future implementations. While this document discusses the use of new technology (e.g. Next Generation Sequencing or NGS), it must be remembered that the vast majority of clinical genetic testing is still performed on testing platforms that were in use years ago, and it is the goal of the Clinical Genomics Work Group to facilitate interoperability of genetic/genomic data, independent of specific genetic testing platforms or methodologies. Following the Clinical Sequencing Domain Analysis Model: Clinical Sequencing, this document is part of an effort to develop a Clinical Genomics Domain Analysis Model (CG DAM) by expanding the use cases.

RELATED DOCUMENTS

HL7 Domain Analysis Model: Clinical Genomics, Release1

(Download) (3.43 MB)

TOPIC

  • Clinical Genomics

BALLOT TYPE

  • Informative

STATUS DATE

2018-07-25

RESPONSIBLE WORK GROUP

Clinical Genomics

PRODUCT TYPE

  • Domain Analysis Model

STAKEHOLDERS

  • Clinical and Public Health Laboratories
  • Clinical Decision Support Systems Vendors
  • EHR, PHR Vendors
  • Emergency Services Providers
  • Equipment Vendors
  • Health Care IT Vendors
  • Healthcare Institutions
  • Immunization Registries
  • Lab Vendors
  • Local and State Departments of Health
  • Medical Imaging Service Providers
  • Pharmaceutical Vendors
  • Quality Reporting Agencies
  • Regulatory Agency

FAMILY

  • V3

CURRENT STATE

  • Retired

REALM

  • Universal