Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
RelatedPerson
UGRs for family members are linked using Genomics-RelatedPerson resources, following the same profiling used by the Genomic Order Management Service. Note: The Order Management use case assumes family relationships are asserted/validated by the requesting clinician, however analysis is needed to determine whether UGR familial relationships can be asserted and approved by the patient/related person themselves
Family Members Without a UGR
FamilyMemberHistory resources MAY additionally be used to link clinical family history for individuals who do not have a UGR, such as deceased family members, those who live abroad, or individuals whose identity cannot be confirmed. When used FamilyMemberHistory resources SHALL conform to the Genomics-FamilyMemberHistory profile guidance.
The PersonalRelationship resource, introduced in FHIR R5, is simlar to the RelatedPerson resource as it provides a mechanism for expressing relationships between two individuals. However, unlike RelatedPerson, it does not represent an individual as a standalone clinical entity and instead models the relationship only. Although conceptually appealing for linking UGR records, the resource is of low maturity and not part of the normative content in R6. As such, PersonalRelationship SHALL NOT be used in the context of the UGR until further notice.
The GA4GH Pedigree standard provides a data model for representing family health history. This is equivalent to the Genomics use of the FamilyMemberHistory resource, with caveats around the FMH resource being limited to pairs of individuals rather than complete family units.