Genome sequencing helps diagnose rare condition in three-year-old
The parents of three-year-old Nathaniel Clayton say their son’s diagnosis with a rare condition has given them “power” to help him. (GOSH)
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.
