6727 The Syndrome Without A Name (SWAN) Clinic – Shortening the Diagnostic Odyssey

Objectives Individually, rare diseases are rare. Collectively, they are common. Their diagnosis and management places a significant financial burden on the NHS (£3.4 billion in the last 10 years) and, for patients, these conditions are life-long, life-limiting and lack support groups and management models.¹ The UK Strategy for Rare Diseases (2021) includes faster diagnosis and care co-ordination as two of its priorities – recognising significant unmet need.² The SWAN clinic is a specialist clinic designed to investigate patients with possible rare undiagnosed conditions and is one of the first to be commissioned in the UK as a dedicated service for children. The main aim of the clinic is to provide a diagnosis for patients suspected of having a rare undiagnosed disease as well as looking to improve the care coordination and management of these patients using a multi-disciplinary approach. Methods The service was funded by the Welsh Government as a 2-year pilot commissioned through Welsh Health Specialist Services Committee (WHSSC) from 31.12.2021 to 31.03.2024. Referrals to the outpatient service were invited from March 2022. The service has been evaluated quantitatively; looking at the number of diagnoses made following referral and whether referral has led to changes to the patients treatment or management, and qualitatively; by using specifically developed Patient-Reported Outcome Measures (PROMs) and Patient-Reported Experience Measures (PREMs) and using patient stories. Results 54 referrals have been made to the service from multiple specialists with 42 accepted for further evaluation. All had undergone some form of genetic testing prior to referral. To date, 5 new diagnoses have been made resulting in treatment changes and opportunities for reproductive counselling. Following review patients have had changes to their management (n=19), new referrals (n=28), additional investigations arranged (n=25) and holistic support provided (n=30). Many patients are undergoing genetic reanalysis (n=21), had further genetic testing initiated (n=20) or been entered into research trials (n=9). International recognition of the service and acceptance into the UDNI (Undiagnosed Diseases International Network) is enabling further investigative possibilities. PREMs and PROMs evaluation indicate a desire and need for such a service by patients with undiagnosed conditions. Conclusion We present a replicable framework for reviewing and managing undiagnosed patients with the aim of limiting the time to diagnosis and improving patient care – making a significant difference to patients' lives. The service has received positive media attention and has assisted in development of models of care currently being considered in the other four UK nations. References A preliminary assessment of the potential impact or rare diseases on the NHS, Imperial College Health Partners – Julia Watkins & Matthew O'Connell, November 2018 UK rare diseases framework, department of health and social care, January 2021