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phenopackets / domain-analysis

The goal of this repository is to collect and develop domain analysis content for the phenotypic domain.
https://phenopackets-analysis.rtfd.io/
Apache License 2.0
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Individual, person, patient, etc. #7

Open ShahimEssaid opened 4 years ago

ShahimEssaid commented 4 years ago

An issue to discuss the domain aspects of individuals, people, patients, etc. This discussion should be focused on the domain aspects, their meaning, importance, etc. regardless of how those things are implemented in any model.

Issue for: https://phenopackets-analysis.readthedocs.io/en/latest/domain-entities/individual.html

ametke commented 3 years ago

I think in the vast majority of cases the subject of a Phenopacket is going to be a Patient. If a Phenopacket is used to share the anonymous phenotypic description of a participant in a research study, for example, it could be argued that in this case the subject of the Phenopacket is a ResearchSubject rather than a patient. Using Phenopackets to represent the phenotype of family members when collecting family history information would be another case where the subject is not necessarily a Patient.

I think the main issue here is that Phenopackets has a single element to represent any individual and FHIR has several resources for this purpose. However, the Patient resource is the one that is connected to all other resources and is also more mature (it has normative status).

In my opinion, the core IG should map Individual to Patient, despite this slight mismatch. Mapping Individual to Person complicates the model unnecessarily. Also, the Person resource is only maturity level 2 and the FHIR documentation states the following: "Note: The Person resource is an advanced feature."