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NHS England announces rare genetic disorder fast-tracking service

Patients with inherited white matter disorders will benefit from earlier diagnosis and specialist care

NHS England

NHS England has said it will be fast-tracking hundreds of patients with rare genetic disorders to accelerate diagnosis and access to specialist care.

The new service means that patients with inherited white matter disorders (IWMDs), also known as leukodystrophies, will get rapid access to expert teams, increased virtual care and improved local support from nearby clinics that will provide local testing and symptom management.

IWMDs are diseases that usually affect the white matter of the brain and spinal cord, causing symptoms such as impaired mobility, vision, speech and hearing, inability to swallow and loss of cognitive skills.

These conditions can present at any age and are estimated to affect thousands of adults and children in the UK.

The new service, which is expected to review more than 300 patients a year, provides a specialist multi-disciplinary team. Those with a suspected IWMD can be referred to the team by local neurology and genetics services, as well as other specialist services.

Access to new nationally-designated molecular genetics laboratories with expertise in IWMDs will also be included in the service to enable faster diagnosis.

Following diagnosis, a care plan will be designed with a patient’s local team, which the healthcare system said will ‘help improve patient outcomes through a better understanding of their condition and improved symptom management’.

The new service will also register patients with the new IWMD clinical registry to ensure those eligible will have better access to new treatments and clinical trials as and when they become available.

John Stewart, director for specialised commissioning at NHS England said: “This new service is a pioneering model of NHS care, with a combination of virtual and face-to-face care with access to a range of experts.

“The new clinical registry also provides opportunities for clinicians to learn more about the condition, identify patients likely to benefit from trials of potential new treatments and will enable patients to share information about how they are feeling.”

The launch follows the recent publication of a new rare diseases action plan for England to enable those living with a rare disease to receive better care and treatment, fairer access to testing and continued support.

UK health minister, Helen Whately, said: “Our rare diseases action plan committed to reducing health inequalities and improving the lives of people with rare diseases. This is an important step towards fulfilling those commitments.”

Article by
Emily Kimber

27th March 2023

From: Healthcare



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