Table 1 Description of the terminology used in precision medicine, adapted from Seymour et al. [64] and Stanski et al. [65]
Term | Description |
|---|---|
Phenotype | Clinical features or traits that characterize a group of patients within a disease or syndrome, including genetics, environmental factors and other clinically observed characteristics |
Endotype | Subset of patients defined by distinct biological mechanism of disease within a phenotype |
Sub-phenotype | A subset of clinical features in patients with a shared phenotype that distinguishes the group from other groups within that phenotype |
Prognostic | Indicators used to inform about risks of various outcomes |
Predictive | Indicators providing information about the likelihood of response to a given treatment |
Drug (or intervention) response | Differential responses to drug (or intervention) based on phenotype defined by an indicator |
Heterogeneity of treatment effects (HTE) | Differences in treatment responses in a group due to variability in drug response phenotype within that group |
Treatable trait | A subgroup characteristic that can be successfully targeted by an intervention |
Enrichment | A prospective strategy for addressing HTE by reducing heterogeneity of the sample population or increasing representation of patients with similar risk profiles |