‘Case Finding’ Project to help identify patients with undiagnosed rare diseases.

What is a rare disease?

A disease is rare when it affects fewer than 1 in 2000 people¹.  There are currently over 6000 known rare diseases, impacting an estimated 300 million people globally¹ (3.5 million in the UK2).

Common clusters of symptoms and signs can hide underlying rare diseases, leading to delayed diagnoses, incorrect treatments and disease progression. Around 72 percent of rare diseases are genetic1, so advancing the correct patients for appropriate genetic testing is crucial for shortening this diagnostic odyssey.

What have we done?

This project, delivered by the NHS North East and Yorkshire (NEY) Genomic Medicine Service Alliance (GMSA) in collaboration with NHS GP practices in Bradford, Northumberland and Sunderland 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.

The project had expert input from two GPs, with additional expertise in genomic medicine. These genomic medicine champions reviewed and identified patients’ reports in collaboration with local clinical genetics teams.

How will this project make a difference?

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, 26% of which have been taken forward for ongoing 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 and provides a model for implementation in the primary care setting.


What’s next?

This project has a sister project in the Central and South GMSA region. Case finding in primary care with MendelScan but with a different implementation strategy. Learning from the two projects will inform the suitability and approach for expansion to other localities.

  1. https://www.rarediseaseday.org/what-is-a-rare-disease/
  2. https://www.raredisease.org.uk/what-is-a-rare-disease/

How can I learn more?

Contact us to learn more.

[email protected] 

Our Project team are:

Dr. Will Evans, GP with a specialist Interest in Genomics. Clinical Assistant Professor, University of Nottingham

Dr. Jackie Cook, NEY GMSA Clinical Director