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Rare disease Minister announces National Genomics Healthcare Strategy

On Wednesday 27 February, at the Rare Disease UK parliamentary reception to mark Rare Disease Day, Baroness Nicola Blackwood, the Minister in charge of rare diseases, announced the development of a National Genomic Healthcare Strategy.

The National Genomic Healthcare Strategy will aim to ensure rare disease patients receive a faster and more accurate diagnosis, as well as providing access to personalised treatment and care. The Minster said, ‘We want to diagnose conditions before symptoms occur. We want to deliver personalised treatment, informed not just by our general understanding of disease but by our own personal, de-identified medical data – including our genetic make-up.’

The National Genomic Healthcare Strategy follows on from the 100,000 Genomes Project, which helped one in four patients with rare diseases receive a diagnosis for the first time. The project successfully reached its goal, sequencing the 100,000th whole genome, by December 2018.

This year, the NHS will offer whole genome sequencing to adults and children in the UK with certain cancers and some rare genetic conditions. This will be used to provide personalised treatments specific to the patient to boost the chances of recovery and improve their lives.

Building on the NHS Long Term Plan, the National Genomic Healthcare Strategy will also set out how the genomics community can work together to make the UK the global leader in genomic healthcare.

The Minster said, ‘Through the NHS Long Term Plan we want to lead the world in the use of data and technology to prevent illness – not just treat it’.

Our Chief Executive, Dr Jayne Spink, said, ‘We are pleased that Baroness Nicola Blackwood made this commitment to over 150 individuals, patients and families affected by rare diseases at our Rare Disease Day reception in Westminster. We stand ready to work with Baroness Blackwood to develop this strategy.

We hope this National Genomic Healthcare Strategy will improve equity of access to genomic advances across the UK, and ensure the best possible collaboration in research into rare, genetic and undiagnosed conditions. It will be important that the National Genomic Healthcare Strategy combines with a revised strategic approach to rare disease – care, research and support need to keep step with progress in diagnosis and the identification of rare and genetic conditions.’

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