SHCA publishes a new report on delays to a rare disease diagnosis

Published June 15, 2023

The SHCA has produced a report exploring the impact of long waits for rare disease diagnoses and setting out recommendations to improve the system. 

Navigating the labyrinth: reducing delays to a rare disease diagnosis was developed in recognition that a person’s rare disease journey begins not at the point of diagnosis, but possibly many years before. The title of the report is inspired by the experiences of one member of the SHCA, who believes that their personal journey to their rare disease diagnosis is best described as a labyrinth: a complex maze filled with wrong turns and dead ends which is challenging to navigate. Our report explores the barriers to receiving an accurate and timely diagnosis, and identities the key opportunities where progress is being made. 

The UK Rare Diseases Framework and national Rare Disease Action Plans provide a strong foundation to help patients get their final diagnosis faster, but we’ve set out where we believe policymakers can go further. The SHCA is calling for policymakers – including the NHS in England and the devolved nations, and the Department for Health and Social Care – to implement our recommendations which fall under five key themes:

  1. – Testing for rare diseases 
  2. – Support for undiagnosed patients 
  3. – Awareness among healthcare professionals 
  4. – Mental health support during the diagnostic journey 
  5. – A blueprint for the future of rare disease diagnosis 

You can read the full report here.

Thank you to the SHCA members who helped build the report, giving a voice to the patients and families they work tirelessly to support, through diagnosis and beyond.