| Type |
Standard / Implementation Specification |
Standards Process Maturity |
Implementation Maturity |
Adoption Level |
Federally required |
Cost |
Test Tool Availability |
|
Implementation Specification
|
|
In Development
|
Feedback requested
|
 |
No
|
Free
|
No
|
|
Implementation Specification
|
|
Final
|
Feedback requested
|
 |
No
|
Free
|
No
|
= Federal FHIR Action Plan: Marks standards for coordinated federal adoption. See Appendix V: Federal FHIR Action Plan for more details.
| Federal FHIR Action Plan Alignment |
HL7® FHIR® Genomics Reporting Implementation Guide (Genomics Reporting IG) - HL7® FHIR® Genomics Reporting Implementation Guide (Genomics Reporting IG) is an implementation specification for reporting genomic data in an interoperable manner using FHIR standard.
- The Genomics Reporting IG aims to provide standardized guidance by providing examples of genomic data reporting including:
- Simple, structural, complex, and gross genomic variations
- Well known and de novo genomic variations
- Germline and somatic genomic variations
- Genomic variations in disease pathology
- Genomic variations for pharmacology purposes
- Genomic variations for transplant suitability
- Full and partial genome sequencing
|
| Limitations, Dependencies, and Preconditions for Consideration |
Applicable Security Patterns for Consideration
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- 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 aligned 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
- Sequencing Quality and Regulatory Genomics
- Activities with Global Alliance for Genomics and Health (GA4GH) is an international community dedicated to advancing human health through genomic data. They build technical standards and policy frameworks and tools that will expand responsible, voluntary, and secure use of genomic and other related health data.
The HL7 Clinical Genomics Work Group has a Project Scope Statement (PSS) that was approved to develop a FHIR IG for Family Health History.
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Any use/sharing of genomic data must follow processes in line with:
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