Rare Disease Primary Care
A disease is rare when it affects fewer than 1 in 2000 people. There are around 7000 rare conditions, impacting an estimated 3.5 million people in the UK.
Patients with a rare disease share many challenges and may require input from multiple clinical specialties. Patients frequently report poor care co-ordination, especially after transition from paediatric to adult services, with their care spread across primary and secondary care. As these conditions are individually rare there may only be a few or even one patient with a specific rare disease within a GP practice.
Project Overview
Care pathways were mapped for two genetic conditions (Neurofibromatosis Type 1 (NF1) and Achondroplasia) by reviewing guidelines, followed by a workshop involving two GPwSI (GPs with a special interest) in Genetics, all relevant clinicians and patients diagnosed with the conditions.
We identified when and how patients may attend their GP, and key practical advice for GP practices to support care co-ordination at these ‘touch-points’. We developed a template which can be applied to other rare diseases to give GP practices a quick summary of the most relevant and important information to appropriately manage care co-ordination. This was then applied to a third genetic condition (Fragile X) as proof of principle.
Achievements
Care pathways were mapped for two genetic conditions agreed by consensus across the three genetic centres. Mapping the pathways enabled us to identify themes which are important for care co-ordination and common across rare diseases: symptoms which require routine or urgent investigation or referral, those which may be more common within a particular rare disease and those which need different tests or treatment if they occur in someone with a rare disease.
We produced a concise summary focussing on these common patient ‘touch-points’ with health services, detailing the appropriate management. We also showed that the format of the summary could be applied to other rare diseases.
Legacy & Resources
The legacy of this project is a tried and tested process and summary template which can be used to develop a concise resource for GP practices to support care co-ordination and appropriate clinical management. The model of pathway mapping and resource development could then be expanded to other rare genetic diseases and rolled out nationally across the GMS network.
The next steps involve capturing these summaries as disease specific templates embedded in the GP electronic health record, similar to those used in other chronic diseases, so that GP practices have this information quickly to hand. This approach will also be disseminated within the NHS and patient support groups.
Contact us to learn more.
Our project team are:
Dr. Jude Hayward, GP, Primary Care Lead for the NEY GMSA, RCGP Joint Clinical Champion in Genomic Medicine Primary Care
Dr. Will Evans, GP with a specialist Interest in Genomics. Clinical Assistant Professor, University of Nottingham
Dr. Jackie Cook, NEY GMS Clinical Director (Rare Disease)