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Syndrome Without A Name Clinic (SWAN)

 

Introduction

The aim is to improve diagnostic rates by 40%, enhance wellbeing, and improve care co-ordination for Welsh patients with suspected rare diseases within three years. Rare diseases, affecting fewer than 1 in 2000 people, pose significant health challenges, particularly for children, who are disproportionately affected.

In Wales, an estimated 170,000 people suffer from rare diseases, with 80% having a genetic component. Many patients face misdiagnoses, long waits for correct diagnoses, and multiple doctor visits. Achieving these goals requires a new multi-disciplinary strategy involving clinical professionals, other teams, and patient collaboration to provide timely diagnoses, support, and co-ordinated care.

Methods

PDSA Approach: Used to refine referral processes and improve clinic reach, including changes to referral forms, criteria, and broader media use.

Outcome Measures: Developed PREMs and PROMs with CEDAR and Welsh Value in Health Centre over several cycles to measure patient-related outcomes.

Benchmarking: Difficult due to the novel nature of the service, but regular meetings with Perth Children’s Hospital and Harvard help guide service development.

Patient Stories: Traditional research methods are challenging due to small patient numbers, so patient stories are used for learning, in collaboration with Genetic Alliance, Rare Disease UK, and SWAN UK.

Outcomes

  • New clinical approach has led to diagnoses made for previously undiagnosed patients, leading to significant treatment changes.
  • 8% overall diagnostic rate; 35% for patients who completed investigations and were discharged.
  • Improved patient experience, especially in care coordination, as shown by PREMs, PROMS, and interviews.
  • Service users praised the multidisciplinary and holistic nature of the SWAN Clinic.
  • Significant improvement in self-management capabilities 6 months post-referral.
  • SWAN patients used health services more effectively, with a 56% reduction in secondary care contact days.

Learnings

  • The SWAN service has demonstrated its necessity, leading to new diagnoses, significant management changes, and enabling reproductive choices.
  • Lower diagnostic rate than some other services, but barriers to genomic reanalysis have been overcome.
  • Novel therapies initiated based on new diagnoses.
  • Psychological benefits observed in patients and families, even without a diagnosis.

What next?

  • Seeking funding to fully embed the clinic in NHS Wales, with ongoing work to improve patient pathways.
  • Advanced diagnostic techniques in genomics and metabolomics are being integrated, offering personalised care pathways.
  • The SWAN model is being shared with NHS England, other UK nations, and internationally for potential rollout.