Representing Family Health History for Clinical Genomics

Type	Standard / Implementation Specification	Standards Process Maturity	Implementation Maturity	Adoption Level	Federally required	Cost	Test Tool Availability
Standard	HL7® FHIR® R4 - Resource FamilyMemberHistory	Balloted Draft	Production		No	Free	No
Implementation Specification	HL7 FHIR R4 Implementation Guidance: Genomics	Balloted Draft	Production		No	Free	No
Implementation Specification	HL7 FHIR, R4 - Genomic Pedigree	Final	Pilot	Feedback Requested	No	Free	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 Assistant Secretary for Technology Policy (ASTP), in partnership with the 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: Family Health History Genetics https://www.hl7.org/fhir/pushpull.html Sequencing Quality and Regulatory Genomics https://www.hl7.org/fhir/STU3/sequence.html https://www.hl7.org/fhir/STU3/bundle.html https://www.hl7.org/fhir/STU3/capabilitystatement.html The HL7 Version 2.5.1 Implementation Guide: Lab Results Interface (LRI) Version 1, STU 3 - US Realm includes a section that regards genomic information variants. It may be used as an option for meeting this interoperability need until FHIR resources are more mature. 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.	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

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 Assistant Secretary for Technology Policy (ASTP), in partnership with the 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:
- Family Health History Genetics
  - https://www.hl7.org/fhir/pushpull.html
- Sequencing Quality and Regulatory Genomics
The HL7 Version 2.5.1 Implementation Guide: Lab Results Interface (LRI) Version 1, STU 3 - US Realm includes a section that regards genomic information variants. It may be used as an option for meeting this interoperability need until FHIR resources are more mature.
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.

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

Comment

Submitted by gdixon on 2018-09-12

Promote - My Family Health Portrait

General population – Collecting family history is time consuming yet valuable as the first step in analysis of further need for genetic studies. Promoting the U.S. Surgeon General My Family Health Portrait should be encouraged as part of patient engagement. The My Family Health Portrait creates a standard implementation, usable visual rendering that can be consistently implemented, and promotes interoperability

Submitted by kwboone on 2017-11-20

Lacks clarity and needs…

Lacks clarity and needs further work before adoption.