Exemplar Project:

Challenges exist in accessing timely and appropriate genomic testing in primary care for patients with rare diseases such as inherited retinal disease (IRD), inflammatory bowel disease (IBD), epilepsy, and cancer predisposition syndromes (CPS). These issues arise due to limited awareness among clinicians, complex diagnostic criteria, and resource constraints in primary care, resulting in delayed diagnoses, inequitable access, and missed opportunities for targeted treatments or trials.

Project Overview  

This project leverages Mendelian’s MendelScan tool, which uses AI to identify patients in primary care who meet genomic testing criteria by analysing electronic health records (EHRs). It will focus on evaluating MendelScan’s effectiveness in identifying eligible patients, assessing the impact of AI on NHS Genomic Medicine Services, and examining the scalability of AI solutions across diverse primary care settings with varying EHR systems. The findings will highlight successes and barriers to scaling AI-driven solutions within the NHS Genomic Medicine Services.

National benefit

This project aims to aid the overall evaluation of rare disease case-finding with AI tools and increase appropriate referral and testing of patients with the relevant rare diseases and undiagnosed cancer predisposition syndrome, to ultimately improve the diagnostic rates and provide appropriate treatment of the underlying genetic disease.

For more information, contact the team:

Peter Fish, CEO, Mendelian – peter@mendelian.co