Context-Sensitive Common Data Models for Genetic Rare Diseases - A Concept

Stud Health Technol Inform. 2023 Jun 29:305:139-140. doi: 10.3233/SHTI230443.

Abstract

Current challenges of rare diseases need to involve patients, physicians, and the research community to generate new insights on comprehensive patient cohorts. Interestingly, the integration of patient context has been insufficiently considered, but might tremendously improve the accuracy of predictive models for individual patients. Here, we conceptualized an extension of the European Platform for Rare Disease Registration data model with contextual factors. This extended model can serve as an enhanced baseline and is well-suited for analyses using artificial intelligence models for improved predictions. The study is an initial result that will develop context-sensitive common data models for genetic rare diseases.

Keywords: Common Data Model; Context-Sensitive; Rare Disease.

MeSH terms

  • Artificial Intelligence*
  • Humans
  • Physicians*
  • Rare Diseases / genetics