The University of Exeter’s alumni magazine has shone a spotlight on our award‑winning NHS Rapid Whole Genome Sequencing Service and the impact it is having for families across the UK.

In the article, we hear more about how our partnership with the University of Exeter is transforming research, diagnosis and care through genomics, improving outcomes for children with rare genetic conditions.

An extract is available below, or you can read the full feature here.

Transforming clinical care for rare genetic conditions

A rare condition is any condition that affects less than one in 2,000 people. There are more than 7,000 rare conditions with more being discovered all the time through scientific progress.

Around one in 17 people will develop a rare condition at some point in their lifetime. This equates to approximately 3.5 million people across the UK. Eight out of 10 rare conditions are also genetic conditions (the result of a change in a person’s DNA sequence). Around 75% of rare genetic conditions have their onset in childhood and rare conditions are thought to be responsible for around 25% of deaths in the newborn period.

In partnership with the Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust and NHS England, the University has revolutionised diagnosis and management for the sickest babies and children with rare genetic conditions. Together, we have developed the pioneering NHS England National Rapid Genome Sequencing service for critically unwell babies and children on intensive care. Available through the NHS across England, this cutting-edge service uses a single test to look for more than 6,000 genetic conditions, including metabolic problems, severe forms of epilepsy and disorders affecting growth and development.

A genetic diagnosis often changes the course of treatment and can be lifesaving. The service has been transformative ­– the first in the world to provide a swift genetic diagnosis accessible to all children and families who need it across an entire country, sometimes in as little as four days; whereas previously families faced long waits of months, and often years, for a diagnosis.

“It is important to never forget that it changes children’s lives” 

The most impactful endorsement of all comes from families who have received a diagnosis and seen their child’s care transformed as a result. In the article, we hear from Casper’s family about what a diagnosis has meant for them.

Casper had a cardiac arrest and was found to have an enlarged heart at 11 months of age. The intensive care doctors noticed that Casper had some other clinical features that suggested his heart problems may be due to an underlying genetic condition. The clinical team requested our rapid genome sequencing test which identified a genetic change that had never been seen before.

Read more here.

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