A disease is rare when it affects fewer than 1 in 2000 people. There are around 7000 rare conditions, impacting an estimated 3.5 million people in the UK. As they are individually rare, people may undergo multiple investigations and prolonged time to diagnosis. Around 72% of rare diseases are genetic, so advancing the correct patients for appropriate genetic testing is crucial for shortening this diagnostic odyssey.
Project Overview
The NHS North East and Yorkshire Genomic Medicine Service (NEY GMS) delivered this project in collaboration with NHS GP Practices in Bradford, Northumberland and Sunderland, and evaluated the effectiveness of using MendelScan, a digital case finding technology developed by Mendelian (a UK based health technology company) to scan GP Electronic Medical Records and identify patients with undiagnosed rare diseases. Health records within these GP practices were searched for combinations of symptoms which may suggest one of a specific list of rare diseases.
Achievements
To date almost 104,000 patient records have been scanned as part of the project, with 142 cases identified as being at risk of having an undiagnosed rare disease, some of which proceeded to testing which wasn’t available at the time of the initial symptoms and 26% of which have been taken forward for review in secondary care.
The evaluation demonstrated that the case finding digital technology can be a useful tool to identify patients with undiagnosed rare disease. It also helped clarify which rare diseases could potentially be identified in this way and provided a model for implementation in the primary care setting.
Legacy
At a practice level, patients have benefited from diagnosis and access to an appropriate treatment or from knowing that they have had additional testing to investigate their symptoms.
At a population level this project has contributed to a growing body of information around use of digital technologies to identify patients who may have an undiagnosed genetic condition at population scale and at pace.
Resources
https://ojrd.biomedcentral.com/articles/10.1186/s13023-022-02216-w
Contact us to learn more.
Our project team are:
Dr. Will Evans, GP with a specialist Interest in Genomics. Clinical Assistant Professor, University of Nottingham
Dr. Jackie Cook, NEY GMS Clinical Director (Rare Disease)