Genetic Alliance UK launched the report, ‘Good Diagnosis: Improving the experiences of diagnosis for people living with rare conditions’ in February 2022. The project sought to understand how people living with a rare condition perceived their diagnosis journey and to identify the key principles of a ‘good’ diagnosis experience.

The Good Diagnosis project and report identified the eight principles of a good diagnosis experience. 

A Good Diagnosis is: 
  • Timely and accurate
  • Informed and supported
  • Collaborative and coordinated
  • Acknowledged and respected

The Good Diagnosis report outlined four recommendations: 
  1.  The UK Rare Disease Framework Delivery Partners should consider developing a central repository (such as an online portal) of information on rare conditions for healthcare professionals. 
  2. People with rare conditions should be given a diagnosis care plan when they begin their journey to diagnosis. 
  3. People living with rare conditions in the UK should be offered access to a care coordinator throughout their journey to diagnosis.
  4. A Rare Conditions Good Diagnosis Patient Rights Charter should be developed and included in each national action plan. The Charter should clearly communicate the standard of care people with rare conditions should expect to receive. The Charter should be based on the identified Principles of Good Diagnosis as defined by this report.
The full Good Diagnosis report can be read at

Genetic Alliance UK will be working with the rare community during 2022 to deliver the recommendations set out in the Good Diagnosis reportTo receive updates on work related to the good diagnosis report, fill out the form below. 

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