- A new study has found that advances in whole-genome sequencing are enabling earlier diagnoses for children with rare genetic conditions.
- The research, published in Genetics in Medicine, indicates that children diagnosed through the NHS's Genomic Medicine Service receive a diagnosis two years earlier on average, at six years old.
- The family of three-year-old Nathaniel Clayton, diagnosed with the rare neurological condition KIF1A via whole-genome sequencing at Great Ormond Street Hospital, shared how the diagnosis has empowered them.
- Nathaniel's mother, Marianne de la Roche, stated that a diagnosis provides clarity, aids in advocating for her child, helps with future planning and grants access to specialist care and support.
- Experts from Great Ormond Street Hospital and the NHS highlighted that earlier diagnoses offer significant benefits, allowing families to access necessary care and treatment sooner, providing hope and crucial answers.
IN FULL
How three-year-old’s life was ‘made easier’ by diagnosis of rare condition
