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.
Sollie Annet, Sijmons Rolf H., Lindhout Dick, van der Ploeg Ans T., Rubio Gozalbo M. Estela, Smit G. Peter A., Verheijen Frans, Waterham Hans R., van Weely Sonja, Wijburg Frits A., Wijburg Rudolph, Visser Gepke. A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing. Human Mutation. Vol. 34(7):967–973. 2013. Hindawi Limited. [Cross Ref]