The Syndrome Without A Name (SWAN) Clinic - Evaluation of a new rare disease clinic pilot in NHS Wales.

Poster Abstract: Aine Fairbrother-Browne, Bioinformatics Developer, EMBL-EBI

Abstract

BACKGROUND: An estimated 170,000 people in Wales [1], and 300 million worldwide [2], live with a rare disease. Some of these conditions are extremely uncommon and lack a formal name – these are known as "syndromes without a name", or SWANs [3]. For these patients, the path to diagnosis is fragmented and lengthy, often referred to as the ‘diagnostic odyssey’. In 2022, the University Hospital of Wales (UHW) in Cardiff opened the UK’s first SWAN Clinic, to support this underrepresented patient group. OBJECTIVE: To reduce the diagnostic odyssey for adult and paediatric SWAN patients via a holistic, comprehensive model of care, and achieve a diagnostic rate of 40% of referrals.

METHODS: Clinical data included total number of referrals, referral outcomes, and outcomes for patients. RESULTS: As of August 2024, a total of 174 people (91 adults, 83 paediatric patients) were referred to the SWAN Clinic. Of these, 117 referrals were accepted, and 82 patients (79%) were seen in clinic during the pilot phase. A partial diagnosis was given to 9 patients (14%), a possible diagnosis to 14 patients (21.4%), and 42 patients were not yet diagnosed (64.6%). Overall, 8 of 13 patients discharged from the clinic were diagnosed, corresponding to a diagnostic rate of 61.5%. 

CONCLUSIONS: The clinic facilitated diagnosis of previously undiagnosed, suspected rare conditions, and has exceeded the target diagnostic rate for those patients discharged from the service. The SWAN Clinic was awarded ongoing funding based on the positive findings of the pilot’s evaluation.