In a study at Addenbrooke’s Hospital, rapid whole-genome sequencing reduced mean diagnostic turnaround time for children suspected of cancer from 42 days to 3 days.
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The NHS currently offers whole-genome sequencing to people aged 0 to 25 years who are suspected of having cancer, with a mean end-to-end turnaround of 42 days.
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Earlier genomic results can inform initial treatment decisions, potentially directing children to targeted treatments or clinical trials and helping avoid some harmful treatments.
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In the study cohort, rapid whole-genome sequencing was associated with access to precision medicines, less invasive surgery, reduced chemotherapy use, and noncancer diagnoses in some cases.
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NHS England plans to roll out rapid whole-genome sequencing across England over 2 years through the Pediatric Cancer Genomic Network of Excellence and NHS Genomic Medicine Service laboratories.