The MendelScan study v1
Research type
Research Study
Full title
Evaluating the acceptability of case finding for rare diseases within primary care
IRAS ID
331046
Contact name
Sarah Robinson
Contact email
Sponsor organisation
Eastern AHSN
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
What is the problem?
Rare diseases are individually rare but collectively common. 1 in 15 people are estimated to have a rare disease in their lifetime, and if you are one of those it typically takes more than 5 years to get a diagnosis.Why do we need to do something about it?
This presents a huge burden on patients: who suffer “diagnostic odysseys” of 3+ misdiagnoses and 7+ consultant visits, alongside anxiety, uncertainty and impact on livelihoods, and also on the NHS due to late diagnosis being costly. Pre-diagnosis, rare disease patients cost the NHS more than twice non-rare disease patients, in addition late diagnosis results in poorer patient outcomes. Early rare disease diagnosis for patients is life-changing: it opens up new options for treatments, clinical trials, care and support, that in turn can improve patients health and wellbeing.What now?
Mendelien, a London based MedTech company, have created a digital software known as MendelScan, that is focused on shortening the diagnostic odyssey of rare and hard to diagnose diseases. The MendelScan algorithm captures disease features from electronic health records to flag patients that may meet the criteria for a suspected disease and provides a report to their healthcare provider for further review and potential expedited diagnosis.
However, we do not know how patients or healthcare providers feel about this software being used. This is a qualitative study recruiting 20 patients and 15 healthcare professionals from GP practices where MendelScan has been implemented. We want to find out how people feel about MendelScan and how it impacts on healthcare professional’s practice.REC name
East Midlands - Leicester South Research Ethics Committee
REC reference
24/EM/0021
Date of REC Opinion
1 Feb 2024
REC opinion
Further Information Favourable Opinion