Families of children with rare genetic conditions can get a diagnosis years faster thanks to advances in whole genome sequencing, a study has found.
Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes that relate to specific health conditions.
Now researchers have found that advances in the field over just a few years have led to families getting answers sooner.
And more children are also receiving a diagnosis, they found.
One family have described how their son’s diagnosis with a rare condition has given them “power” to help their child.
Three-year-old Nathaniel Clayton started having problems with his vision when he was just six months old.
After numerous appointments medics had advised that a small part of Nathaniel’s genetic code should be examined to try to determine the cause of his health problems.
But after the family were referred to the world-renowned children’s hospital Great Ormond Street (Gosh) in London, experts decided he should have whole genome sequencing.
By examining his whole genetic readout, doctors were able to diagnose him with an incredibly rare neurological condition called KIF1A which only affects around 500 children globally.
His mother Marianne de la Roche, 33, from Wandsworth in south London, told the Press Association: “(Having a diagnosis) gives you a name of what is causing all of these issues.
“When you have a disabled kid there is a constant grief there, so now you can name it.
“It gives you more weight when you want to advocate for your child and it means you can have a more targeted approach at helping them out.
“A diagnosis makes things better, makes things easier, it also means you can start planning your future.”
She said it is common for children with KIF1A to have epilepsy and while Nathaniel has not had a seizure, the family have prepared themselves in case he does.
Although there is no current cure for KIF1A, getting a diagnosis means that Nathaniel now has access to specialist care and the family are also supported by the charity Small Steps, which helps children with physical disabilities work on all areas of their development.
Ms de la Roche said: “Perhaps for parents that haven’t lived through this, a diagnosis without a treatment might not sound too transformative.
“But being able to put a name to this holds so much power – now we have a name we can begin finding the right support for our son, we can begin looking at the research, it is the start of the next phase of Nathaniel’s, and our family’s, journey.”
She added: “I’m so proud of him, he’s always happy. He charms everyone – he’ll try to charm therapists so he doesn’t have to do the work.”
Music-loving Nathaniel has recently started nursery at a school for visually impaired children where he will be educated until he is 19.
And he has just become a big brother, with his sister Beatrice born only five weeks ago.
Genomic testing showed that it was unlikely she would have the same condition as Nathaniel as it was not inherited.
The new study, published in the journal Genetics in Medicine, found that children diagnosed with a rare condition at Gosh who have had whole genome sequencing through the NHS’s Genomic Medicine Service (GMS) are more likely to find the genetic cause at an earlier age than before.
Researchers examined data on 500 patients who had their whole genome sequences compared with almost 2,000 children who took part in the 100,000 Genomes Project – a research project and the precursor to the GMS.
They also found that the average age at diagnosis was about two years younger – with children diagnosed under the GMS diagnosed at an average age of six compared with an average age of eight under the 100,000 Genomes Project.
Dr Emma Wakeling, consultant in clinical genetics and genomic medicine at Gosh and study lead, told PA: “We were able to really show quite nicely that the diagnostic rate overall is now significantly better in the diagnostic service that we’re running in the NHS through the Genomic Medicine Service.
“The other sort of key finding is we’re diagnosing children earlier.”
She went on: “Thanks to insights from the 100,000 Genomes Project we’ve been able to improve our service for patients.
“Making a diagnosis earlier in life brings so many benefits to children and their families.
“By doing the right genomic test at the right time in a child’s life we can best help families to access the care and treatment they need.”
Professor Dame Sue Hill, chief scientific officer for England and senior responsible officer for genomics in the NHS, said: “Genomic medicine is a key focus for the NHS because it gives us the chance to give families the first sign of hope by giving their child a clear diagnosis for the first time.
“Thanks to genomic testing in the NHS families like Nathaniel’s are getting crucial answers on average two years earlier – not only is this a huge relief for parents but it also means children with rare diseases can get faster access to treatments with a better chance of success.”
Anita Coppola, head of Small Steps, said: “Our emphasis is on creating a nurturing community for families with young children who face physical challenges, many of whom may have an undiagnosed genetic condition.
“Gaining access to genetic testing and receiving a diagnosis can be vital for families to move forward, both practically and emotionally.”
