National Genomic Healthcare Strategy announced

The Government has announced it will work with the National Genomics Board to form National Genomic Healthcare Strategy that specifically focuses on providing predictive services to people with rare diseases.

Launched by Minister for Innovation Nicola Blackwood, who herself suffers from a rare genetic condition (Ehlers-Danlos Syndrome), the announcement builds upon the NHS launching a Genomic Medicine Service in October.

The government also set out how it will improve services for people with rare conditions. These include:

• every person with a rare disease will have a dedicated person responsible for co-ordinating their care

• every patient with a rare disease 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

The NHS will from this year offer whole genome sequencing to every adult and child in the UK with certain cancers and rare genetic conditions. This will be used to provide personalised treatments specific to the patient.

Blackwood said: “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.”

The 100,000 genomes project was the largest national sequencing project in the world. The Department of Health and Social Care claims that this project helped one in four patients with rare diseases receive a diagnosis for the first time.

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.