Representing Family Health History for Clinical Genomics

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Type Standard / Implementation Specification Standards Process Maturity Implementation Maturity Adoption Level Federally required Cost Test Tool Availability
Standard
Balloted Draft
Production
Rating 1
No
Free
No
Implementation Specification
Balloted Draft
Production
Rating 1
No
Free
No
Emerging Implementation Specification
Final
Pilot
Feedback Requested
No
Yes
Limitations, Dependencies, and Preconditions for Consideration Applicable Value Set(s) and Starter Set(s)
  • There is no widely recognized vocabulary to capture family genomic health history, but several vocabularies/value sets are available for consideration. 
  • Further constraint of this standard and implementation specification may be required to support this interoperability need.
  • The Office of the National Coordinator for Health Information Technology (ONC), in partnership with National Institutes of Health (NIH), created Sync for Genes to strengthen genomic data sharing, a key component of the Precision Medicine Initiative. This project is also in alignment with the recommendations made by the Precision Medicine Task Force under the Health IT Standards Committee (HITSC) to advance data standards, address relevant privacy policies, and advance innovations in health IT that support precision medicine. Sync for Genes is the first step toward integrating clinical genomics into the point-of-care by expediting the use of standards, such as Health Level 7 (HL7®) Fast Healthcare Interoperability Resource (FHIR®), to enable and improve patient’s ability to seamlessly share their genomics information via point-of-care applications, such as application programming interfaces (APIs). Sync for Genes supports a critical element of sharing genomic data amplifying the ability to seamlessly share genomic information for research and commercial purposes. Below are the HL7 FHIR Clinical Genomic profiles that were tested as part of the Sync for Genes work:
  • The U.S. Surgeon General also offers the My Family Health Portrait, allowing individuals to enter their family health history details to share with their family members and/or healthcare providers, learn about risk for conditions that can be hereditary, and be saved as a resource that can be maintained and updated over time. 
  • See FHIR projects in the Interoperability Proving Ground.

According to HIMSS, the following vocabularies/value sets may be considered:

  • Gene Identifier: HGNC Value Set
  • Transcript Reference Sequence Identifier: NCBI vocabulary
  • DNA Sequence Variation Identifier: NCBI vocabulary
  • DNA Sequence Variation: HGVS nomenclature

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