A major NHS study has revealed that revolutionary advances in genetic testing are now delivering life-changing diagnoses for children with rare conditions an average of two years sooner than before.
A Family's Journey to Answers
For Marianne de la Roche and her family from Wandsworth, south London, the power of this medical progress is deeply personal. Her son, three-year-old Nathaniel Clayton, began experiencing vision problems at just six months old. After numerous medical appointments yielded few answers, the family was referred to London's world-renowned Great Ormond Street Hospital (Gosh).
There, instead of testing a small portion of genetic code, experts decided to carry out whole genome sequencing. This comprehensive test analyses a person's entire genetic blueprint. The result was a diagnosis of an incredibly rare neurological disorder called KIF1A, which affects only around 500 children globally.
The Transformative Power of a Name
"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, so now you can name it. It gives you more weight when you advocate for your child and means you can have a more targeted approach to helping them."
She described the diagnosis as transformative, even though there is currently no cure for KIF1A. It has allowed Nathaniel to access specialist care and support from the charity Small Steps, which aids children with physical disabilities. "Being able to put a name to this holds so much power," his mother said. "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."
Quantifying the NHS Genomic Leap
The new research, published in the journal Genetics in Medicine, provides concrete evidence of the improved speed and accuracy of modern genetic testing within the NHS. Scientists compared data from 500 patients diagnosed through the NHS's national Genomic Medicine Service (GMS) with nearly 2,000 children from the earlier 100,000 Genomes Project research initiative.
The findings were striking. Not only is the overall diagnostic rate significantly better, but the average age at diagnosis has dropped dramatically. Children in the GMS are now diagnosed at an average age of six, compared to an average age of eight under the previous project—a gain of two precious years.
"We were able to really show quite nicely that the diagnostic rate overall is now significantly better," said Dr Emma Wakeling, consultant in clinical genetics at Gosh and the study's lead. "The other key finding is we're diagnosing children earlier. Making a diagnosis earlier in life brings so many benefits."
Looking to the Future
For Nathaniel, the diagnosis has brought clarity and direction. The music-loving boy has recently started nursery at a school for visually impaired children, where he can be educated until he is 19. In a further relief for the family, genomic testing showed it was unlikely his newborn sister, Beatrice, would have the same condition, as Nathaniel's was not inherited.
Professor Dame Sue Hill, Chief Scientific Officer for England and senior lead for genomics in the NHS, stated: "Genomic medicine 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."
This acceleration not only provides emotional relief but also enables faster access to tailored treatments and support, fundamentally altering the journey for thousands of families facing the challenge of a rare disease.
