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NHS Genomic Medicine Service launches today – with a commitment to sequence one million genomes.

From today, NHS patients will be able to access the first comprehensive genomic healthcare service in the world. Matt Hancock MP, Secretary of State for Health and Social Care, has confirmed that adults with certain rare diseases or hard to treat cancers will be offered whole genome sequencing – an offer to be extended from 2019 to all seriously ill children, including those with suspected genetic disorders and cancer. One million genomes will be sequenced by the NHS and the UK Biobank. The Secretary of State has confirmed that the aspiration for the NHS Genomic Medicine Service is to sequence five million genomes in the UK within a five year period.

For patients with rare diseases, the NHS Genomics Service promises earlier diagnosis and potentially an end to lengthy diagnostic odysseys. Diagnosis can be the first step to accessing the most appropriate and effective care, treatment, information and support, the impacts of which can be transformative for patients. The analysis of genomic data, with the consent of patients, will also be used by researchers to help develop new tests and treatments.

Welcoming the launch of the NHS Genomic Medicine Service Jayne Spink, Chief Executive of Genetic Alliance UK said:

‘The NHS Genomic Medicine Service will be transformative to the way healthcare is delivered and most importantly to the patient experience of living with a rare disease. Faster and earlier diagnosis will bring access to the most appropriate care, treatment, information and support. Analysis of genomic data will bring innovative treatments to the clinic sooner. We are hopeful that today’s launch of the service marks the beginning of a sea change for rare disease patients and their families.’


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