A landmark NHS study has demonstrated that cutting-edge genomic technology is now providing life-changing answers to families of children with rare diseases years faster than before.
A Family's Journey to a Diagnosis
For Marianne de la Roche and her family from Wandsworth, London, the path to understanding their son Nathaniel's health struggles was long and uncertain. Nathaniel began experiencing vision problems at just six months old. After numerous medical appointments yielded no clear answers, his family was referred to the renowned Great Ormond Street Hospital (Gosh).
There, clinicians decided to use whole genome sequencing – a comprehensive test that analyses a person's complete genetic code. This advanced approach revealed that three-year-old Nathaniel has an exceptionally rare neurological disorder called KIF1A, which affects only about 500 children worldwide.
"Having a diagnosis gives you a name for what is causing all of these issues," explained Ms de la Roche, 33. "When you have a disabled child, there is a constant grief there, so now you can name it. It gives you more power when you want to advocate for your child, and it means you can have a more targeted approach at helping them."
The Power of a Name: Planning for the Future
While there is currently no cure for KIF1A, the diagnosis has been profoundly transformative. It has granted Nathaniel access to specialist care and connected his family with the charity Small Steps, which supports children with physical disabilities. The family can now also monitor for potential complications, such as epilepsy, which is common with the condition.
"Perhaps for parents that haven’t lived through this, a diagnosis without a treatment might not sound too transformative," Ms de la Roche reflected. "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."
Music-loving Nathaniel has now started nursery at a school for visually impaired children, where he will be educated until he is 19. The family has also recently welcomed a new baby, Beatrice. Genomic testing showed it was unlikely she would have the same condition, as Nathaniel's was not inherited.
NHS Study Confirms Faster Diagnostic Breakthrough
The new research, published in the journal Genetics in Medicine, provides robust evidence of the impact of the NHS's Genomic Medicine Service (GMS). Scientists compared data from 500 patients who had whole genome sequencing through the GMS with nearly 2,000 children from the earlier 100,000 Genomes Project.
The findings were striking. The diagnostic rate improved significantly, and the average age at diagnosis dropped by about two years. Children in the GMS were diagnosed at an average age of six, compared to eight under the previous project.
Dr Emma Wakeling, consultant in clinical genetics and genomic medicine at Gosh and the study lead, told the Press Association: "We were able to really show quite nicely that the diagnostic rate overall is now significantly better... The other key finding is we’re diagnosing children earlier."
She credited insights from the 100,000 Genomes Project for refining the service, adding: "Making a diagnosis earlier in life brings so many benefits. By doing the right genomic test at the right time, 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, stated: "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, families like Nathaniel’s are getting crucial answers on average two years earlier."
Anita Coppola, head of the Small Steps charity, emphasised the emotional and practical importance of a diagnosis, stating it is "vital for families to move forward." For families across the UK navigating the uncertainty of a rare disease, these advances in the NHS offer not just answers, but hope and a clear path forward.
