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Owning committee name


Committee Approval Date:

May 5, 2015

CG WG Call Notes leading to 2015 May WGM

Contributing or Reviewing Work Groups

FHIR Resource Development Project Insight ID


Scope of coverage

This resource is designed to describe a sequence variation from a patient with information such as:

  • Name of the variation represented
  • Type of the variation
  • Coordinate of the variant
  • Gene region occupied by the variation
  • Name of the gene
  • Tissue source used to determine genotype of the variation
  • Reads

Users are encouraged to provide all available information in this resource for any reported variants, because receiving systems (e.g. discovery research, outcomes analysis, and public health reporting) may use this information to normalize variants over time or across sources. However, these data should not be used to dynamically correct/change variant representations for clinical use outside of the laboratory, due to insufficient information.

Implementers should be aware that semantic equivalency of results of genetic variants cannot be guaranteed unless there is an agreed upon standard between sending and receiving systems.

RIM scope

A new entity which is not covered by the RIM directly.

Resource appropriateness

The Sequence resource is designed to describe the basic information about sequence variations of direct relevance to clinical decision-making. Complete genetic sequence information, of which specific genetic variations are a part, is reported by reference to the GA4GH repository. This resource contextualizes well established standards from the field of clinical genetics into the standards of healthcare (e.g. HGNC - HUGO Gene Nomenclature Committee's international standard for gene names, symbols, and identifiers).

This resource will be referenced as part of the Observation resource, which can be used to report a sequence variant observation. By introducing this resource, we are also able to simplify of the Standard genetics profile particularly as it applies to the DiagnosticReport resource, while extending it to capture family history and diagnosed conditions. The DiagnosticReport can refer to a bundle of sequence variant observations to accomplish a genetics report. Making the Observation resource and the DiagnosticReport more useful as well as more versatile, our design – taken together – simplifies the implementation, production, and consumption of genomic payloads for the clinical purposes for which FHIR is suited.

Expected implementations

Referenced as part of Observation. We add an extension - valueReference in value element in the Observation resource. This element will refer to the Sequence resource to contain the sequence variant representation for genomic payloads.

Content sources

  • HL7 Version 3 Domain Analysis Model
  • GA4GH Data Model

Example Scenarios

  • Specimen Identification
  • Clinical Sequencing (Germline)
  • Cancer Profiling (Somatic)
  • CDS (Family History and Drug Dosage Calculator)
  • Public Health Reporting
  • Clinical and Research Data Warehouses

Resource Relationships

  • Observation


Nov 15, 2015

gForge Users

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