Why the way we define diseases prevents innovation and precision medicine

Abstract

Noncommunicable diseases (NCDs) have become globally abundant, yet the therapeutics we use for them are imprecise. In parallel, identifying new treatments has become more costly than ever due to the ever-aggravating efficacy crisis drug discovery faces. What unites these failures is our ontological classification of diseases, primarily based on descriptive terms. To achieve precision diagnosis and precision therapy in clinical practice, NCDs need to be redefined and subdivided based on their causal molecular mechanisms. However, the inconsistency and incompatibility of the current disease classification systems hinder data integration and analysis towards the characterization of such mechanisms. Here, we explain flaws in the current disease definitions and the dispersion among existing ontologies with the aim of establishing a mechanism-based classification of diseases hence, precision medicine.