Implementing a digital rare disease case-finding tool in UK primary care: a qualitative study of health professionals' experience

BACKGROUND: Rare diseases affect millions of people globally, with a lifetime incidence of 1 in 17. They are complex, multisystem, severe disease, and patients experience a diagnostic delay averaging 5.6 years with associated misdiagnoses, inappropriate treatments, and anxiety. MendelScan is a digital case-finding tool that uses structured primary care data to identify patients at risk of being affected by one of a series of rare diseases. This qualitative study explored primary healthcare professionals' experiences of implementing this technology. AIM: To develop an understanding of primary healthcare professionals' experiences of implementing MendelScan with a focus on their perception of the technology and its implementation, challenges and opportunities. METHOD: A qualitative appraisal of implementing MendelScan using descriptive analysis of surveys and semi-structured interviews with professionals. RESULTS: A total of 11 professionals from the two project areas participated. Participants included GPs, nurses, a genetic counsellor, and healthcare managers.Participants reported that they received adequate support, the project increased confidence in integrating genetics in primary care, and that it may improve inequity in rare disease diagnosis. Professionals' reservations were related to knowledge, time commitments, primary care pressures, contacting patients, data sharing and confidentiality, and overcoming clinical resistance in sharing data with a non-NHS external body. CONCLUSION: This study provides a valuable insight into the experiences of primary care professionals using a novel tool to identify rare diseases. The potential of this tool is promising with benefits for skill development. Large-scale implementation faces challenges related to primary care capacity, data, and funding. © British Journal of General Practice 2024.