FHIR Genomics
FHIR Genomics
Submitting WG/Project/Implementer Group
Justification
Genomic data are of increasing importance to clinical care and secondary analysis. Please see this recent JAMIA article for a primer on some of the work to date on bringing genomic data definitions into the FHIR specification. FHIR Genomics consists of the Sequence resource and several profiles built on top of existing FHIR resources (DiagnosticReport-genetics profile, DiagnosticOrder-genetics profile, Observation-genetics profile). The Sequence resource is a core resource in FHIR Genomics. It is used to represent complex genetics data. FHIR Genomics focuses on clinical genetics data reporting.
Proposed Track Lead
Report
Expected participants
Gil Alterovitz - HMS/BCH
Bob Milius - NMDP
Martin Maiers - NMDP
Cat Lasome - iON Informatics
Grant Wood - Intermountain Healthcare
Joel Schneider - NMDP
Shennon Lu - National Library of Medicine
Roles
FHIR Client
Support the sending of the Sequence resource/genetics profiles operations: create, history, read, search and update.
FHIR Server
Support the receiving and processing of the Sequence resource/genetics profiles operations: create, history, read, search and update.
Scenarios
Scenarios 2-6 are taken from use cases in the [HL7 Domain Analysis Model (DAM): Clinical Genomics, Release 1, September 2014 Informative Ballot]. See links below each scenario for relevant DAM excerpts. A couple new use cases may be considered as approved by CG workgroup and time permits.
Scenario 1 Register a New Sequence and Observation
- Action: (FHIR Client) (FHIR Client) Create a sequence instance and a genetic-profile-based observation instance to represent genetics data and interpretations (DNA variant, RNA sequence, structural variant, etc).
- Precondition: The sequence instance and observation instance do not exist in service prior to action.
- Success Criteria: Sequence and observation instances created correctly on server and in the desired format.
- Bonus point: New profiles can be built on top of the Sequence resource for complex representation
Scenario 2 Clinical Sequencing - Germline Testing
- Action: (FHIR Client) Search target genetic-profile-based observation with given patient ID. This target observation has an extension - Genomic Source Class (url: http://hl7.org/fhir/StructureDefinition/observation-geneticsGenomicSourceClass
) and the value is germline (code: LA6683-2).
- Precondition: Relevant patient and observations have been created
- Success Criteria: A bundle of genetics observations from germline analysis of that patient are returned.
- Bonus point: More parameters can be added for searching
Scenario 3 Family Member History
- Action: (FHIR Client) 1. Search the genetics diagnostic reports of a given patient. Get the reference id of this patient’s familymemberhistory from extension - Family History (url: http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsFamilyMemberHistory
). 2. Retrieve this FamilyMemberHistory instance and get the reference id of Observation instances from extension - Genetic markers, ethnicity, etc. (url: http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation). 3. Retrieve the target Observation instance.
- Precondition: Relevant diagnostic report, observation, family member history have been created.
- Success Criteria: The target Observation instances of the given patient's family member are returned.
- Bonus point: More parameters can be added for searching
Scenario 4 Clinical and Research Data Warehouses
- Action: (FHIR Client) Search for all genetic-profile-based observations with a given variant (e.g. rs587778247)
- Precondition: Observation instances with this variant have been created
- Success Criteria: A bundle of genetics observations, where the code value of extension - Variant Id (url: http://hl7.org/fhir/StructureDefinition/observation-geneticsDNAVariationId
) is rs587778247.
- Bonus point: More parameters can be added for searching
Scenario 5 HLA Typing
- Action: (FHIR Client) Create an HLA genotyping genetics report.
- Precondition: This DiagnosticReport-hlaresults instance does not exist in service prior to action.
- Success Criteria: The HLA genetics report is created correctly on server and in the desired format.
- Bonus point: Extensions can be added
Scenario 6 Species Identification
- Action: (FHIR Client) Search for sequences from human (Homo sapiens).
- Precondition: Sequence(s) have been created where the species is defined as human (Homo sapiens).
- Success Criteria: A bundle of Sequence instances where the value of the species element is Homo sapiens.
Scenario 7 Comprehensive Pathology Report
A comprehensive pathology report integrates pertinent information gathered from various methods (e.g. morphology, immunohistochemistry, flow cytometry, cytogenetics, fluorescence in situ hybridization [FISH], and molecular testing [e.g., NGS]). The DiagnosticReport-genetics profile has the capability to support results with simple or complex genetics observations.
- Action: (FHIR Client) Create a comprehensive pathology report which includes genetic information for a patient.
- Precondition: This diagnostic report has never been created
- Success Criteria: Sequence created correctly on server and in the desired format.
- Bonus point: Extensions can be added.
Scenario 8 Sequence quality
In the sequencing reads, each base is assigned with a quality score generated by the sequencer, which represents the confidence of a base call. Base quality is a critical factor for accurate variant detection in the downstream analysis.
- Action: (FHIR Client) Get the quality of the sequence under consideration.
- Precondition: This sequence instance has been created
- Success Criteria: Target sequence instance is returned.
- Bonus point: More parameters can be added for searching
Scenario 9 Pharmocogenomics
- Action: (FHIR Client)Search for TPMT-related genetic observations for given patient ID.
referenced by pharmacogenomics report. Obtain diagnostic report that points to this observation.
- Precondition: Diagnostic report, observation(s), sequence(s) and the target patient instances are created.
- Success Criteria: Relevant diagnostic report that points to genetic observation(s) for TPMT
- Bonus point: Different parameters (such as genomic coordinates) can be used for searching
See IOM guide: Maybe be good to do one of the IOM variants. http://www.nationalacademies.org/hmd/~/media/Files/Activity%20Files/Research/GenomicBasedResearch/Action%20Collaboratives/DIGITizE%20Abacavir%20and%20TPMT%20CDS%20Implementation%20Guide%20-%20Final%201_0.pdf?la=en
| Element | Sequence #1 | Sequence #2 |
| variationID | rs58238559 | rs58238560 |
| coordinate.chromosome | 7 | 7 |
| coordinate.start | 87452957 | 87082273 |
| coordinate.end | 87452958 | 87082274 |
| coordinate.genomeBuild | GRCh38.p2 | GRCh38.p2 |
| gene | ABCB4 | ABCB4 |
| region | Exon 23 | Exon 6 |
| species | human | human |
| observedAllele | T | T |
| referenceAllele | C | A |
Observation-genetics
| Element | Observation #1 | Observation #2 | Observation #3 |
| category | complex | complex | simple |
| code | 49874-1: ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative | 49874-1: ABCB4 gene mutation analysis in Blood or Tissue by Molecular genetics method Narrative | 54447-8: LT3 gene mutation analysis in Bone marrow by Molecular genetics method Narrative |
| subject | Marry Chalmers | Marry Chalmers | Marry Chalmers |
| effectiveTime | 2015-3-11 10:28:00 | 2015-3-11 10:28:00 | 2015-3-10 11:05:00 |
| issued | 2015-3-12 15:40:00 | 2015-3-12 15:40:00 | 2015-3-12 15:40:00 |
| performer | Molecular Diagnostic Laboratory | Molecular Diagnostic Laboratory | Molecular Diagnostic Laboratory |
| value | Positive | Positive | Positive |
| GeneticsSequence | (refer to) Sequence #1 | (refer to) Sequence #2 | None |
DiagnosticReport-genetics
| Element | 'DiagnosticReport #1 |
| status | final |
| code | Comprehensive genetics report |
| subject | Marry Chalmers |
| effectiveTime | 2015-3-11 10:28:00 |
| issued | 2015-3-12 15:40:00 |
| specimen | Venous blood specimen |
| result | Observation #1 |
| result | Observation #2 |
| result | Observation #3 |
TestScript(s)
The supporting TestScripts and corresponding fixtures have been committed to the FHIR SVN repository at: http://gforge.hl7.org/svn/fhir/trunk/connectathons/BaltimoreSep2016/Connectathon13/FHIRGenomics
