Hereditary Diseases and Rare Diseases: Diagnosis

Department of Health and Social Care written question – answered on 29th January 2020.

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Photo of Afzal Khan Afzal Khan Shadow Minister (Home Office) (Immigration)

To ask the Secretary of State for Health and Social Care, what steps he is taking to ensure early detection of rare, genetic and undiagnosed conditions.

Photo of Jo Churchill Jo Churchill The Parliamentary Under-Secretary for Health and Social Care

Steps to improve diagnosis of rare conditions are being taken through the implementation of the of the UK Strategy for Rare Diseases, which is available at the following link:

The Government is committed to making the United Kingdom a leader in embedding genomics in healthcare and offering a consistent, world class approach to the genetic identification of rare, genetic and undiagnosed conditions. The Genomic Medicine Service was announced in October 2018, supported by the National Genomic Test Directory which specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access a test.

In January it was announced that the National Health Service in England is providing a new form of DNA test called whole exome sequencing capable of rapidly diagnosing rare diseases for critically ill babies and children, as part of the NHS Long Term Plan to use world leading technologies to improve care for the sickest infants. The National Genomic Healthcare Strategy, due to be published in spring 2020, will set out how the UK will build on our reputation as a world leader in genomic healthcare, focusing on a number of areas including diagnosis.

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