• Rare Diseases

    15 March 2019

    Dear Constituent,

    Thank you for contacting me about rare diseases.

    While the number of people affected by individual rare diseases may be small, collectively roughly 3.5 million people in the UK have a rare condition. I support all efforts made by the Government and the NHS to tackle these conditions and diseases, from which one in 17 people will suffer at some point in their lives

    In February 2019, the Government launched a new National Genomic Healthcare Strategy (NGHS), incorporating measures to enhance services for people with rare diseases. These improvements will ensure that every person with a rare disease will have a dedicated person responsible for coordinating their care and that every patient with a rare disease will be given an ‘alert card’ including information about their condition, treatment regime, and contact details for the specialist involved in their care. Moreover, every child with a rare condition will be transferred to appropriate adult services when they reach 18, even if that adult service is not the commissioning responsibility of NHS England. The NGHS builds on the Government’s ambition to sequence 5 million genomes in the UK by 2023/2, and will help ensure the UK leads the world in genomics healthcare.

    As part of the focus on investment in innovation in the NHS Long Term Plan, a commitment was made that, during 2019, seriously ill children who are likely to have a rare genetic disorder, and adults suffering from certain rare conditions will begin to be offered whole genome sequencing. This will vastly improve the accuracy of diagnosis, with early outcomes of the NHS Genomic Medicine Service indicating that at least one in four people suffering from a rare disease will have a diagnosis they would not previously have received.

    The Government, through the National Institute for Health Research, also has established the Rare Diseases Translational Research Collaboration (TRC) with an initial investment of £20 million over four years. The Rare Disease TRC aims to increase rare disease research collaboration that will lead to improved diagnosis, treatment and care for rare disease patients and will support deep phenotyping of people with rare diseases. Rare Diseases research benefits huge from international collaboration, and I am encouraged to note that my ministerial colleagues have pledged to continue international research and innovation projects with our European partners in the future.

    Thank you again for taking the time to contact me.

    Yours sincerely,

    Mel Stride MP

    MP for Central Devon

    Financial Secretary to the Treasury and Paymaster General