QCI Interpret for Hereditary

Screening 100,000 newborns using whole genome sequencing: The Genomics England Generation Study

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March 25, 2025

In this on-demand recording from ACMG 2024, hear from Dr. David Bick, Principal Clinician of the Newborn Genomes Program at Genomics England, as he discusses the first-of-its-kind initiative aiming to sequence the genomes of 100,000 newborns in England to screen for over 200 selected conditions.

 

In his talk, you will learn about:

 

  • The development and deployment of The Generation Study

  • How Genomics England selected the genes and conditions to include in the point-of-care test

  • How QIAGEN provided expert-curated content for 69,844 pathogenic or likely pathogenic variants across all 209 conditions

  • The variant prioritization strategy used by Genomics England to enable efficient and actionable reporting

  • The anticipated research outcomes and future plans

 

Learn more about how QIAGEN is supporting The Generation Study here.