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Raising the Bar in Rare Disease: Networks of Excellence, New Technologies and New Standards
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Overview of the UK’s national rapid whole genome sequencing service for babies and children.
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How the service delivers lifesaving diagnoses in days rather than weeks for >6,000 genetic conditions.
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Impact on patient care: accelerating treatment, improving outcomes, and reducing complications.
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Translating genomic technologies into actionable clinical interventions across the NHS.
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Lessons learned from implementing a national, large-scale genomic service and future directions for paediatric genomics.
