Difference between revisions of "ClinicalGenomics FHIR IG Proposal"
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* National Library of Medicine/NIH | * National Library of Medicine/NIH | ||
| − | * Boston Children's Hospital | + | * Boston Children's Hospital |
==Expected implementations== | ==Expected implementations== | ||
Revision as of 19:52, 13 February 2018
This page documents a Pending FHIR IG Proposal
Contents
- 1 PutProposedIGNameHere
- 1.1 Owning work group name
- 1.2 Committee Approval Date:
- 1.3 Contributing or Reviewing Work Groups
- 1.4 FHIR Development Project Insight ID
- 1.5 Scope of coverage
- 1.6 IG Purpose
- 1.7 Content location
- 1.8 Proposed IG realm and code
- 1.9 Short Description
- 1.10 Long Description
- 1.11 Involved parties
- 1.12 Expected implementations
- 1.13 Content sources
- 1.14 Example Scenarios
- 1.15 IG Relationships
- 1.16 Timelines
- 1.17 When IG Proposal Is Complete
- 1.18 FMG Notes
PutProposedIGNameHere
Genetic Reporting Implementation Guide
Owning work group name
Clinical Genomics
Committee Approval Date:
Please enter the date that the committee approved this IGproposal
- Feb 13, 2014
Contributing or Reviewing Work Groups
- Orders and Observations
FHIR Development Project Insight ID
1217
Scope of coverage
The Genetic Reporting Implementation Guide will identify and define extensions, profiles, terminology standards necessary for the reporting of clinical genetic/genomic/biomolecular findings and interpretations related to the domain of clinical genetics/genomics sufficient for precision medicine. This includes items like extensions, profiles, domain specific examples. This work will be defined using the available FHIR tooling and in accordance with documented quality guidelines. This includes, but not limited to, profiles on Observation, DiagnosticReport, ServiceRequest, Specimen, and Sequence.
At present, this implementation guide focuses solely on data structures - what data should be/might be present and how it should be organized. It does not address workflows around how reports are requested, created, approved, routed, delivered, amended, etc. The implementation guide is also paradigm-independent - the data structures presented here could be used in RESTful, messaging, documents or other mechanisms.
IG Purpose
Current Clinical Genomics FHIR work includes a number of profiles on Observation, DiagnosticReport, DiagnosticRequest, FamilyMemberHistory that relies on heavy use of extensions. and a Sequence Resource. Refactoring these profiles into a consistent approach, emphasizing components in the case of Observation, and separating them from FHIR core spec will simplify their use and understanding as well as comform to FHIR design going forward (reducing the number of Profiles in the core spec).
Content location
http://build.fhir.org/ig/HL7/genomics-unified/index.html
Proposed IG realm and code
uv/genreport
Short Description
This implementation guide tries to provide guidance that will enable improved interoperable and computable sharing of genetic testing results.
Long Description
Genomics is a rapidly evolving area of healthcare that involves complex data structures. There is significant value in sharing this information in a way that is consistent, computable and that can accomodate onging evolution of medical science and practice. The value comes from the ability to easily sort, filter and perform decision support on such information and the resulting improvements in care and reduction in costs such as the elimination of redundant testing. This implementation guide tries to provide guidance that will enable improved interoperable and computable sharing of genetic testing results.
This guide covers all aspects of genetic reporting, including:
- Human and veterinary as well as bacterial and viral specimens
- Representation of simple discrete variants, structural variants including copy number variants, complex variants as well as gross variations such as extra or missing chromosomes
- Representation of both known/catalogued variants as well as fully describing non-catalogued variations
- Germline and somatic variations
- Relevance of identified variations from the perspective of disease pathology, pharmacogenoomics, transplant suitability (e.g. HLA typing), etc.
- Full and partial DNA sequencing, including whole genome and exome studies
- Mosaicism (differing genetic characteristics for different specimens from the same subject)
- Mitochondrial DNA variations
Involved parties
- National Library of Medicine/NIH
- Boston Children's Hospital
Expected implementations
- National Marrow Donor Program
- Center for International Blood and Marrow Transplant Research
Content sources
No other source specifications, but we have garthered input from
- Global Alliance for Global Health (GA4GH)
- FDA
- National Academies
- ClinGen/ClinVar
- Variant Modelling Collaboration (VMC)
- CDISC PGx
- ISO TC215
Example Scenarios
- General Genomic Reporting
- Sequence Variants
- Cytogenetic Reporting
- Pharmacogenomic Reporting
- Somatic Genomic Reporting
- Genomic Profiling for Transplantation
IG Relationships
No, there not any IGs this resource depends on or that depend on this IG
Timelines
- May 2018 Ballot for R4
- Sep 2018 Ballot for R4 after ballot reconciliation
When IG Proposal Is Complete
When you have completed your proposal, please send an email to FMGcontact@HL7.org
