Why the way we define diseases prevents innovation and precision medicine

Zeinab Mohamed Mamdouh Abdelkareem Gomaa, E. Anastasi, Ahmed Hassan, Johannes Boltze, Mahmoud Elbatreek, Cristian Nogales Calvo, Mayra Pacheco Pachado, Alexandra Petraina, Zina Piper, Alejandro Rodriguez Gonzalez, A. Wipat, E. Silverman, Ana Casas Guijarro, Emre Guney*, Harald Schmidt*, REPO-TRIAL, REPO4EU consortia

*Corresponding author for this work

Research output: Working paper / PreprintPreprint

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.
Original languageEnglish
PublisherDrugRxiv
Number of pages21
DOIs
Publication statusPublished - 1 Feb 2023

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