Rare Disease Day: UK aims to lead world in genomic healthcare

The UK government has announced a new National Genomic Healthcare Strategy which sets out how the UK can become the global leader in genomic healthcare.

In a speech to the NHS, Nicola Blackwood, the Minister for Innovation, launched the strategy for combating rare diseases by using genomics to offer predictive, preventative and personalised healthcare. One in 17 people, or almost 6% of the population, will be affected by a rare disease at some point in their lives. This equates to approximately 3.5 million people in the UK and 30 million people across Europe. Ms Blackwood herself went undiagnosed 30 years for the rare Ehlers–Danlos Syndrome. 

The strategy will cover the role of research, identification and prevention of rare diseases, diagnosis and early intervention, the coordination of care, and empowering those affected by rare diseases. It builds on the ambitions of Matt Hancock, Secretary of State for Health, to sequence 5 million genomes in the UK in the next five years.

Every person with a rare disease will have a dedicated person responsible for co-ordinating their care, and will be given an ‘alert card’, including information about their condition, treatment regime and contact details for the individual expert involved in their care. Every child with a rare condition will be transferred to appropriate adult services when they reach the age of 18, even if that adult service is not the commissioning responsibility of NHS England.

Ms Blackwood 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. We want to diagnose conditions before symptoms occur. And 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. In order to make this a reality, I am delighted to announce that we will be working with the National Genomics Board and the broader genomics community to develop a National Genomic Healthcare Strategy."