How does whole genome sequencing help diagnose rare diseases?

Whole genome sequencing analyzes a person's entire genetic code to identify changes linked to specific health conditions, leading to faster diagnoses.

What is KIF1A and how is it diagnosed?

KIF1A is an incredibly rare neurological condition diagnosed through whole genome sequencing, affecting approximately 500 children globally.

What benefits does an earlier diagnosis offer children with rare diseases?

Earlier diagnosis provides access to specialist care, targeted treatments, and crucial support for both the child and their family.

Home / Health / Rare Disease Diagnosis Years Faster With New Tech

Rare Disease Diagnosis Years Faster With New Tech

2 Dec, 2025

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Summary

Whole genome sequencing diagnoses rare conditions years sooner.
Families gain power and targeted support with a diagnosis.
Children are diagnosed an average of two years earlier.

Rare Disease Diagnosis Years Faster With New Tech

Families of children with rare genetic conditions are now receiving diagnoses years faster, thanks to significant advancements in whole genome sequencing. This cutting-edge technology provides a comprehensive analysis of an individual's entire genetic code, identifying specific health-related changes more efficiently.

A recent study highlights how these rapid improvements have led to quicker answers for families and increased diagnosis rates for affected children. For instance, three-year-old Nathaniel Clayton received a diagnosis of the rare neurological condition KIF1A, enabling his family to access specialized care and support.

This faster diagnostic process, facilitated by the NHS's Genomic Medicine Service, means children are identified on average two years earlier than before. Experts emphasize that early diagnosis is crucial for accessing timely treatments and improving outcomes, offering a vital first sign of hope to families navigating rare diseases.