Rare Diseases: Diagnosis

(asked on 21st October 2020) - View Source

Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what steps his Department is taking to improve early accurate diagnosis for rare diseases.


Answered by
Jo Churchill Portrait
Jo Churchill
Minister of State (Department for Work and Pensions)
This question was answered on 5th November 2020

The Government recognises the importance of patients across all areas of the United Kingdom being able to obtain a quick and accurate diagnosis.

The 2013 UK Rare Disease Strategy has helped to increase awareness amongst healthcare professionals to refer patients into specialist services. Earlier detection of rare diseases is benefitting from advances in genomics and the commitment to incorporate whole genome sequencing into routine healthcare by the NHS Genomic Medicine Service. The recently published Genome UK Strategy outlines the Government’s vision to help people live longer, healthier lives using new genomic technologies to diagnose and treat rare diseases. Additionally, the government plans to publish a new UK Rare Diseases Framework by the end of 2020 which will replace the UK Rare Diseases Strategy.

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