Detecting signs of Fabry and Pompe disease in UK clinical data

In the sections below you will find an overview of how we create models to help predict which people might be at risk of disease, some of the current performance metrics, and also some background information on both Fabry and Pompe disease.

By using the inTrigue methodology in collaboration with Optimum Patient Care (OPC) in the UK and the OPC Research Database and supported by Sanofi, we are learning novel patterns of disease, we do this because using published medical criteria does not help find the patients that remain undiagnosed and in fact highlights many more patients that do not in fact have disease (false positives).

The inTrigue approach looks for people that cannot be found using those methods. inTrigue is designed to help clinicians detect the people who are living with a rare or difficult-to-diagnose disease and help uncover those people who are therefore otherwise unlikely to get a diagnosis.

Importantly, this is a research project that
- focusses on a limited population at first
- works with a population of clinicians that have signed up for the OPC quality improvement (QI) programme to improve the quality of care for patients in general practice
- aims to use the feedback from clinicians to improve the approach

This is a completely different level of performance that promises to reduce the time to a diagnosis, and also importantly, uncover the undiagnosed patients.

OPC quality improvement (QI) programme:
(https://www.primescholars.com/articles/strategies-that-promote-sustainability-in-quality-improvement-activities-for-chronic-disease-management-in-healthcare-se-100520.html)