Add record or field for clinical significance

[kshefchek]

In genotype to phenotype datasets, we often see a variant or genotype being linked to a disease along with a statement of clinical significance. For example, a variant may fall on a spectrum of benign to pathogenic for a given disease. Another example is a variant and treatment having a response to a given disease (see CIViC).

In these cases, I assume we want to conflate the concept of a phenotype and disease, so the disease would be stored in the PhenotypeInstance record. However, I'm not aware of a place to put the clinical significance of the association (benign, pathogenic, sensitive to drug). Would it make sense to add this to a field in the FeaturePhenotypeAssociation?

[kshefchek]

Here are two examples: ClinVar Record for BRCA Feature: NM_007294.3:c.4676-?_5074+?del Phenotype: BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Environment: Null Clinical Significance: Pathogenic

CIViC record for KIT L576P Feature: KIT L576P Phenotype: Melanoma Environment: [Imatinib, Sorafenib, Nilotinib] Clinical Significance: Resistance or Non-Response