Public perception of the use of clinical decision support tools within the NHS for rare disease case finding

Abstract This study investigated public acceptability of using technology on patient health data within the National Health Service (NHS) to shorten the diagnostic odyssey of patients with rare and difficult-to-diagnose diseases. A public perception survey (n = 254), promoted primarily through social media, was used to gauge public sentiment towards the use of clinical decision support tools, specifically using a rare disease case finding software (MendelScan) as an example. This research aimed to build upon previous findings regarding public opinion on health data use.The sample was broadly representative of the UK population, although with a higher proportion of females and individuals with undergraduate or postgraduate education. Respondents positively endorsed the use of health data to improve healthcare and the use of technology to identify rare disease patients both by the NHS in general (92.8%) and their own General Practitioner (GP) or hospital (88.8%). More than 90% of respondents anticipated feeling grateful, and nearly 85% expected to feel comforted, if they were contacted by their GP or hospital about a potential rare disease, even if they had not been asked to explicitly consent in advance. Analysis of responses to open questions supported these findings, with respondents predicting that they would feel relieved, hopeful and grateful if technologies were used on their electronic health records to identify rare diseases. While respondents indicated likely permission for such data use and no anticipated opt out, they strongly desired to be informed about the use of their health data. Concerns primarily revolved around the accuracy of the technology, the knowledge that a medical device created by a private company had access to their health data, and the privacy and security of their health data. Anxieties were expressed about the NHS’s capacity to implement such technology due to perceived inadequacies in its current infrastructure.The findings of this survey demonstrate there's a clear willingness among respondents to allow their data to be used for improving healthcare and identifying rare diseases, particularly when accompanied by transparent communication and the option to opt out. Addressing specific concerns regarding technology use - particularly related to accuracy, privacy, the emotional impact of a potential diagnosis and NHS infrastructure readiness - highlights areas for ongoing research and development to foster public trust and effective implementation.