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Updated: Jan 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine

Emma Wakeling1, Rashida Baptiste2, Clarissa Rocca3

  • 1North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|December 2, 2025
PubMed

Insights

Learning from the 100,000 Genomes Project (100KG) improved the National Health Service Genomic Medicine Service (GMS) for rare conditions. GMS offers higher diagnostic yields and earlier testing for children through informed genome sequencing (GS) strategies.

Area of Science:

  • Genomics
  • Clinical Genetics
  • Rare Diseases

Background:

  • Genome sequencing (GS) is crucial for diagnosing rare conditions, especially in pediatric patients.
  • The 100,000 Genomes Project (100KG) paved the way for integrating GS into the UK's National Health Service (NHS).
  • The NHS Genomic Medicine Service (GMS) launched in 2020, offering routine clinical GS.

Purpose of the Study:

  • To evaluate how insights from the 100KG initiative influenced the delivery and outcomes of the GMS.
  • To compare the effectiveness of GS in children within the GMS versus the 100KG research program.

Main Methods:

  • A comparative analysis of GS outcomes in pediatric patients.
  • Comparing 501 children tested through the GMS with 1759 children from the 100KG research cohort.

Main Results:

  • GMS demonstrated a significantly higher diagnostic yield (29%) compared to 100KG (22%).
  • GMS facilitated earlier testing, with a median age of 6 years versus 8 years in 100KG.
  • GMS utilized fewer, larger gene panels, increasing the median number of genes tested per patient (2801 vs 1373).

Conclusions:

  • Knowledge gained from 100KG has enhanced GMS clinical service delivery, leading to improved diagnostic rates and earlier patient intervention.
  • The refined GS approach enables quicker access to personalized management strategies with reduced diagnostic investigations.
  • These findings have broad implications for implementing effective GS services globally.
Abstract

Keywords:
Clinical practiceDiagnostic yieldGenome sequencingPediatricResearch

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