Individual

This is an individual person in the domain independent of any role in any clinical or research setting. It subsumes the patient role.

GitHub issue: ISSUE

Phenopackets representation

The Phenopackets specification uses Individual to represent a patient (the proband of the Phenopacket), but similar concepts within the specification are used to represent people in other ways. The model for this element is not focused on capturing encounters, providers, etc. and there is more focus on person-to-person relationships to aid interpretation of genetic data. This language supports this interpretation and the attributes also support this structure.

Phenopackets captures both sex and karyotypic sex in this entity.

FHIR representation

FHIR represents the concept of individuals in many ways. The core Patient resource entity represents the role of a person as a patient in a healthcare organization, rather than representing an individual. The language that supports this interpretation is here and here, and in few other places in the Patient documentation page.

FHIR also has a resource that represents Person, which is meant to be a role-neutral representation of an individual. See also RelatedPerson, although this resource is less relevant to the current driver use cases. Also see this section.

The FHIR Patient documentation provides good guidance for issues related to sex, gender, and clinically based sex and gender facts. See this section.

Phenopackets IG representation

This IG maps a PP Individual to a FHIR Patient

Proposed Core IG representation

A Phenopacket “Individual” should be primarily mapped to a FHIR Person as it is the closest semantic match. If there is a need to also capture the Phenopacket’s instance in the context of a FHIR Patient (because information is present that is related to a specific Patient instance in a clinical setting), then a FHIR Patient instance should also be created for this purpose and linked to the Person instance as the primary representation of existence of the Individual in the world. Also note that FHIR’s main “integration” point for most or all FHIR instances is the Patient resource (not Person) so it is almost a requirement to instantiate both Person and Patient to be able to capture other information with the existing FHIR resources. We should follow the guidelines described in the Patient and Person FHIR documentation pages and instantiate one or both as needed based on what other information we need to attach to them. See further discussion below.