PARLIAMENTARY WRITTEN QUESTION
Jordan's Syndrome (29 October 2024)

The government is committed to improving the lives of those living with rare diseases, such as Jordan’s Syndrome. The UK Rare Diseases Framework sets out four priorities collaboratively developed with the rare disease community: these include better coordination of care and improving access to specialist care, treatments, and drugs. We remain committed to delivering under the Framework and will publish an annual England action plan in 2025 which will report on progress.

Jordan’s syndrome is a rare and complex neurodevelopmental disorder and it is important to get a rapid and accurate diagnosis to ensure timely access to treatment and care. Currently NHS England offers genomic testing for two of the genes associated with Jordan’s Syndrome and any healthcare professional can refer their patient for testing based on their clinical indication. The NHS Clinical Genomic Services (CGS) deliver a comprehensive clinical genomic and counselling service and have a key role in providing care and coordinating care being provided by other clinical specialties to patients and their families. As part of the NHS CGS, the patient and their family will access diagnosis, and management relevant to their condition, but also receive support and guidance so that they are able to understand their condition, its implications, and their options in relation to reproduction, screening, prevention and clinical management.