Babies to have full genome sequencing for rare diseases

Government pledges £40m for research into rare diseases

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Newborn babies will receive whole genome sequencing to help research on rare genetic conditions, it has been announced.

Millions of people with rare diseases are set to receive new treatments and faster diagnosis under a new government plan.

The government said on Sunday evening healthy newborn babies will receive full genome sequencing as part of a research pilot to screen newborns for rare genetic conditions.

Healthcare professionals will receive access to a digital tool, called “Genotes” which will allow them to quickly access information on rare diseases.

There are more than 7,000 rare diseases, affecting an estimated 3.5 million people in the UK, and the government is planning to improve how illnesses are tackled.

Alongside the plan, the government announced £40m in new funding for the National Institute for Health Research BioResource to support their work in characterising and understanding rare diseases.

Health and social care secretary Sajid Javid said: “This action plan will speed up diagnoses and care and allow our fantastic workforce to better support patients, by drawing upon the UK’s world-leading science and technology.

“I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”

The government will pilot new approaches to care for those with undiagnosed rare conditions and improve education around patient care.

It will also look to support rapid access to drugs and develop a strategic approach for gene therapies.

Nick Meade, director of policy of Genetic Alliance UK, said: “Our community’s voice has been heard more than ever in the development of this plan.

“This collaboration has helped us see how well these priorities of diagnosis, awareness, coordination and care can combine to have an impact greater than the sum of their parts.

“We are excited to move into the implementation phase and to see real improvements for people living with rare conditions.”

Prof Lucy Chappell, chief executive of the National Institute for Health Research said: “Around one in 17 people will develop a rare disease at some point in their lives, so while they are individually rare, cumulatively these diseases affect a substantial proportion of the population.

“The work of the NIHR’s BioResource has already helped produce some truly groundbreaking discoveries, such as those made through the 100,000 Genomes Project, and today’s significant new investment will ensure it remains at the cutting edge of the fight to understand rare diseases, and help the people who have them.”