Rare diseases affect approximately 7% of the population. It is difficult to utilise rare disease patients’ data for research purposes, as, unlike common disorders, the relevant data is often embedded and inaccessible within hospital networks.
A team of clinicians from Moorfields Eye Hospital and researchers at UCL Institute of Ophthalmology, with software development company, Loft Digital, have come together to look at how to collate this clinical information, from across multiple locations, to support patient care and research.
It is technically and ethically challenging to link data within the NHS Data Spine for research, without patient consent, so they are exploring a different tack – giving the job to the patient. They aim to work with highly-motivated patients – starting with the inherited retinal disease community – to encourage them to upload, curate and own their clinical data onto a new patient-owned online repository.
They first conducted a feasibility appraisal of an online platform that could:
- Facilitate requests from patients to hospitals for disease-appropriate data
- Provide a framework for hospitals to respond to requests
- Allow patients to access their own data in an informative way and robust to sight-impairment
- Provide pooled data on consented patients for research purposes.
This supported them to start the development of a ‘minimum viable product’ prototype for patients with inherited retinal dystrophies, clinicians and hospital administrators, to extract patients’ rare disease data for clinical and research use.
The team engaged with patients from this rare disease community, and their families, throughout the research, design and build process, using focus groups, interviews, an online survey, and other methods. This informed the team that there are unmet needs within this community regarding clinical data sharing, opportunities to participate in health data research, and peer support, but that those in the community are highly motivated to participate in health research projects which could have a positive impact on their quality of life.
They also interviewed NHS staff, who highlighted the limitations of the NHS health data infrastructure regarding data sharing and the potential impact of data protection regulations, which this platform could help to overcome.
The project has so far taught them that clinical care and research are impeded for rare eye disease, by clinical data being inaccessible and creating a patient-centric platform could solve this challenge. The team has started to build the prototype application, as well as develop a mailing list of interested participants who would like to be involved when the project is completed.
Partners: Loft Digital, Moorfields Eye Hospital and UCL Institute of Ophthalmology.