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NHS patients with rare genetic disorders to be fast-tracked to earlier diagnosis

By March 31, 2023No Comments

Hundreds of people with a range of rare conditions primarily affecting the central nervous system will be fast-tracked to diagnosis and specialist care, thanks to the launch of a pioneering new NHS service.

Patients with inherited white matter disorders (IWMDs), also known as leukodystrophies, will now have rapid access to expert teams, increased virtual support to reduce unnecessary travel to distant face-to-face appointments, and improved local support from nearby clinics providing local testing and symptom management.

Early genetic testing and ‘one-stop’ virtual clinical reviews will help provide a more specific diagnosis and clearer path to specialist treatment for children and adults affected by the disorders, which can be degenerative and life-limiting. This means patients will be diagnosed more quickly and can receive support to manage their symptoms sooner, to help ensure the best possible quality of life.

IWMDs are diseases which 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 are estimated to affect thousands of adults and children of all ages and ethnic backgrounds in the UK.

Children with IMWDs tend to have a low average life expectancy of up to five years from diagnosis, while adults may have a more slowly progressing condition.

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

To enable faster diagnosis, the service includes access to new nationally-designated molecular genetics laboratories with expertise in next-generation sequencing, and, in particular, in IWMDs.

Following a rapid diagnosis, a care plan will then be designed in conjunction with the local team. Offering tailored care more quickly will help improve patient outcomes through a better understanding of their condition and improved symptom management.

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.

“This means hundreds of children and adults will see IWMD specialists and get a genetic diagnosis sooner. 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”.

Natalie Creaney