View source for ClinicalGenomics FHIR IG Proposal


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This page documents a [[:category:Approved FHIR IGProposal|Approved]] [[:category:FHIR IG Proposal|FHIR IG Proposal]]
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[[Category:FHIR IG Proposal]]
[[Category:Approved FHIR IG Proposal]]


<!-- For additional guidance on considerations for resource creation, refer to [[FHIR IG Considerations]] -->


=PutProposedIGNameHere=
Genetic Reporting Implementation Guide
<!-- Resource names should meet the following characteristics:
* Title Case
* U.S. English
* Domain-friendly
* Short
* Clear
* Unique
* Avoid non-universal abbreviations (e.g. URL would be ok)
* Be consistent with other similar IGs
 -->

==Owning work group name==

<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the IG. -->
Clinical Genomics

==Committee Approval Date:==
<i>Please enter the date that the committee approved this IGproposal</i>
* Feb 13, 2014

==Contributing or Reviewing Work Groups==

<!-- Additional work groups that may have an interest in contributing to, or reviewing  the content of the IG (optional) -->
* Orders and Observations

==FHIR Development Project Insight ID==
1217
<!-- Please specify the id of your work group’s PSS for doing FHIR work that covers the development and maintenance of this IG.  (If submitted but not yet approved, just write “pending”.) The link to the PSS template can be found here: http://gforge.hl7.org/gf/download/docmanfileversion/6832/9398/HL7FHIR_DSTUballotPSS-20120529.doc -->

==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 <u>not</u> 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.
'''

<!-- Define the full scope of coverage for the IG.  The scope must be clearly delineated such that it does not overlap with any other existing or expected HL7 Int'l-maintained IG.  The scope will be used to govern "what is the set of potential applications to consider when evaluating what elements are 'core' – i.e. in the 80%"

Scope should consider numerous aspects of breadth of scope, including:
* Subject: Human vs. non-human vs. non-patient (e.g. lab bench medicine)
* Disciplines: Environmental Health, Palliative, Respiratory, Psychology, Maternity, Clinical Research
* Delivery environment (Community, Geriatric, Home care, Emergency, Inpatient, Intensive, Neonatal, Pediatric, Primary)
* Locale: Country, region
 -->

==IG Purpose==

<!-- Why is this IG necessary? -->
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==

<!-- What is the path within the HL7 github repository (i.e. https://github.com/HL7/xxx) or what is the Simplifier project name? -->
http://build.fhir.org/ig/HL7/genomics-unified/index.html


==Proposed IG realm and code==

<!-- What is the realm code (2-character country code or 'uv') and IG code to use for the path when the IG is published under http://hl7.org/fhir?  E.g. us/ccda -->
uv/genreport

==Short Description==

<!-- 1-2 sentences describing the purpose/scope of the IG for inclusion in the registry -->
This implementation guide tries to provide guidance that will enable improved interoperable and computable sharing of genetic testing results.

==Long Description==

<!-- 1 paragraph describing the purpose/scope of the IG in more detail for inclusion in the version history -->
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==

<!-- 1 paragraph describing who is sponsoring or involved in creating the IG for inclusion in the version history -->
* National Library of Medicine/NIH
* Boston Children's Hospital

==Expected implementations==

<!--Key resources are justified by CCDA, for resources not deemed "key", what interest is there by implementers in using this particular resource. Provide named implementations if possible - ideally provide multiple independent implementations. -->
* National Marrow Donor Program
* Center for International Blood and Marrow Transplant Research

==Content sources==

<!-- List all of the specifications (beyond those in the "standard" (FHIR_Design_Requirements_Sources) list of source specifications) that you’re planning to consult

Are there any source specifications that you wish to consult but are concerned about access to or expertise to consider? -->
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==

<!-- Provide a listing of the types of scenarios to be represented in the examples produced for this IG.  They should demonstrate the full scope of the IG and allow exercising of the IG's capabilities (all profiles, different types of applications, etc.) -->

* General Genomic Reporting
* Sequence Variants
* Cytogenetic Reporting
* Pharmacogenomic Reporting
* Somatic Genomic Reporting
* Genomic  Profiling for Transplantation

==IG Relationships==

<!-- Are there any IGs this resource depends on or that depend on this IG? -->
No, there not any IGs this resource depends on or that depend on this IG

==Timelines==
<!-- Indicate the target date for having the IGcomplete from a committee perspective and ready for vetting and voting -->
* 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 [mailto:FMGcontact@HL7.org FMGcontact@HL7.org]'''

==FMG Notes==