For individuals unaffected by disease, there is no way to provide any genomic data about them.
The real-life situation where this might be relevant is if a dataset contains genomic information about people with a certain condition, and their family members. Perhaps this is relevant for diseases with varying levels of penetrance for a specific variant. Currently, as far as I am aware, this sort of dataset can't be fully converted into Phenopackets.
The most sensible suggestion I can think of is to add an extra field in the Diagnosis field of Interpretation which states whether the individual is affected or unaffected by the disease. That would keep all genomic variants tied to diseases.
Just an idea!
For individuals unaffected by disease, there is no way to provide any genomic data about them.
The real-life situation where this might be relevant is if a dataset contains genomic information about people with a certain condition, and their family members. Perhaps this is relevant for diseases with varying levels of penetrance for a specific variant. Currently, as far as I am aware, this sort of dataset can't be fully converted into Phenopackets.
The most sensible suggestion I can think of is to add an extra field in the Diagnosis field of Interpretation which states whether the individual is affected or unaffected by the disease. That would keep all genomic variants tied to diseases.
Just an idea!