MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

Capability Statements

Capability Statements

The CapabilityStatements of the Molekulargenetischer Befundbericht module describe the expected server/client capabilities (supported resources and interactions).

To enable decentralized data analysis through the German Health Research Data Portal (Deutsches Forschungsdatenportal für Gesundheit) of the Medical Informatics Initiative, the capabilities interaction SHALL be supported, so that the FHIR server exposes a CapabilityStatement at [BASE-URL]/metadata. That CapabilityStatement SHALL state which profiles — including their version — and which search parameters are supported.

The following lists the content that SHALL be stated in the CapabilityStatement. In addition, conformance to the CapabilityStatement below SHALL be declared in the respective CapabilityStatement instance under CapabilityStatement.instantiates.

Canonical: https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/CapabilityStatement/metadata

mii-cps-molgen-capabilitystatement

Supported profiles and their expectation

The rendered CapabilityStatement above lists the supported profiles as links but does not show the expectation attached to each one — the IG Publisher omits it. The table below therefore restates them. It is generated from the built CapabilityStatement, so it cannot drift from the artifact.

Resource	Profile	Expectation
DiagnosticReport	MII PR MolGen Molekulargenetischer Befundbericht	SHALL
FamilyMemberHistory	MII PR MolGen Familienanamnese	SHALL
Observation	MII PR MolGen Diagnostische Implikation	SHALL
Observation	MII PR MolGen Mikrosatelliteninstabilität	SHALL
Observation	MII PR MolGen Molekulare Konsequenz	SHALL
Observation	MII PR MolGen Molekularer Biomarker	SHALL
Observation	MII PR MolGen Mutationslast	SHALL
Observation	MII PR MolGen Therapeutische Implikation	SHALL
Observation	MII PR MolGen Variante	SHALL
Procedure	MII PR MolGen Genomic Study Analysis	SHALL
Procedure	MII PR MolGen Genomic Study	SHALL
RiskAssessment	MII PR MolGen Polygener Risiko Score	SHALL
ServiceRequest	MII PR MolGen Anforderung genetischer Test	SHALL
Task	MII PR MolGen Empfohlene Folgemaßnahme	SHALL
Task	MII PR MolGen Medikationsempfehlung	SHALL
Observation	MII PR MolGen Genotyp	MAY
Observation	haplotype	MAY
Observation	sequence-phase-relationship	MAY

SHALL means a conformant server must support the profile; MAY means it is specified for those who exchange this data, but no server is obliged to produce it.

Why three profiles are MAY

Of the eighteen supported profiles, fifteen carry SHALL and three carry MAY: genotyp, haplotype and sequence-phase-relationship.

All three state something about alleles as a whole rather than about a single finding: which alleles sit at a locus, which variants travel together, and whether two variants sit on the same copy of a chromosome. Many laboratories never derive these — they report the variants and stop. Requiring them with SHALL would oblige implementers to produce data they do not have.

MAY says the useful thing instead: whoever does exchange genotypes, haplotypes or phase relationships uses these profiles rather than inventing their own. The mandatory core of this module is the report itself, the variants, and the implications drawn from them.

Two of the three — haplotype and sequence-phase-relationship — are not profiled by this module at all; they are used as they come from Clinical Genomics STU3 and are described under Implementer Guidance.