Transforming clinical care for rare genetic conditions
‟Casper is pure joy and is making really good progress. Now we can put aside our worries and think positively about the future.”
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.
Currently, our ground-breaking service provides a diagnosis for around 41% of the 1,200 acutely ill babies and children tested each year, as well as identifying potential new approaches to treatment. With more than 6,000 families now tested through the service, this national success story epitomises the promise of genomic medicine in transforming clinical care and improving healthcare outcomes, while generating significant cost savings for the NHS.
The service builds on more than three decades of our University’s major discoveries of the genetic causes and mechanisms of disease, and our ongoing search for improved diagnostic testing and new treatments. The University has led the way in the application of new and emerging technologies in diagnostic practice, and new approaches to analysing and interpreting genetic data, which collectively underpin this revolutionary NHS service. Working in partnership with the Royal Devon University Healthcare NHS Foundation Trust and NHS England, families and clinicians worldwide, we have developed a rare disease NHS diagnostic centre which serves patients and clinicians across the entire country.
The most impactful endorsement of all comes from families who have received a diagnosis and seen their child’s care transformed as a result.
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.
The NHS scientist team contacted researchers across the world and found a team who had identified 10 other children and adults with similar genetic changes to Casper. The research team confirmed that Casper was affected by a rare genetic condition called CAMK2D-related disorder that they had only recently discovered and was not yet published in the medical literature. Without this diagnosis, Casper would never have been eligible for a heart transplant.
Casper’s father said, “It is important to never forget that it changes children’s lives.” His mother said, “Casper is pure joy and is making really good progress. Now we can put aside our worries and think positively about the future.”
Professor Emma Baple, who is the medical lead for the service, said, “It has transformed how rare genetic conditions are diagnosed. The faster we can get answers, the greater chance we have to change that child’s care and their outcome. Any child in England who is acutely unwell and needs a rapid test can have it – and it can be life changing and lifesaving in many cases – but without the NHS we simply wouldn’t be able to provide it. There isn’t anywhere else in the world that offers this service to every child and family that needs it.”
“In Exeter, we are privileged to have seen the rewards of advancement in genomic medicine and how it’s changing lives for children and families affected by rare genetic conditions.”
Dr Andrew Parrish, Head of the Exeter NHS Genomics Laboratory.
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.
The NHS scientist team contacted researchers across the world and found a team who had identified 10 other children and adults with similar genetic changes to Casper. The research team confirmed that Casper was affected by a rare genetic condition called CAMK2D-related disorder that they had only recently discovered and was not yet published in the medical literature. Without this diagnosis, Casper would never have been eligible for a heart transplant.
Casper’s father said, “It is important to never forget that it changes children’s lives.” His mother said, “Casper is pure joy and is making really good progress. Now we can put aside our worries and think positively about the future.”
Professor Emma Baple, who is the medical lead for the service, said, “It has transformed how rare genetic conditions are diagnosed. The faster we can get answers, the greater chance we have to change that child’s care and their outcome. Any child in England who is acutely unwell and needs a rapid test can have it – and it can be life changing and lifesaving in many cases – but without the NHS we simply wouldn’t be able to provide it. There isn’t anywhere else in the world that offers this service to every child and family that needs it.”
