Qiagen supports UK initiative to sequence genomes of 100,000 newborns

Qiagen has partnered with Genomics England to support the delivery of the Generation Study. This first-of-its-kind initiative aims to sequence the genomes of 100,000 newborns in England to screen for over 200 selected conditions, enabling earlier diagnosis and treatment of rare conditions.

Through its Clinical Knowledge Base, Qiagen will be the only company to provide clinically relevant variant content for genes included in the point-of-care sequencing test. Now that testing has begun, this content will be used to support rapid variant interpretation and reporting of sequencing results.

The Generation Study will sequence and analyse the genomes of 100,000 newborns for a set of actionable genetic conditions that may affect their health in early years. Officially launched in October 2024, the national study will screen newborns for more than 200 treatable conditions that affect approximately 3,000 babies born each year in the UK.

The study will identify conditions such as Metachromatic leukodystrophy (MLD) in babies sooner and could enable hundreds to benefit from earlier diagnosis and treatment that could help slow the progression of rare conditions and even extend their lives.

The Qiagen Clinical Knowledge Base offers comprehensive genomic content built on expert manual curation. Rather than examining and interpreting each variant in real-time against the evidence found in the medical literature, newborn sequencing benefits greatly from pre-curated knowledge which is readily comparable to each newborn’s DNA.

To date, the Qiagen Clinical Knowledge Base has been used to analyse and interpret more than 4 million NGS patient test cases globally, making it one of the most trusted genomic content sources worldwide.