QIAGEN announced that it 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 analyze 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.

“When it comes to screening newborns to identify babies at risk for developing a rare disease, there is no room for error,” said Dominic John, Head of QIAGEN Digital Insights. “We are pleased to be the only company to partner with Genomics England in this landmark program to provide nationwide access to the power of whole-genome sequencing for newborns in the United Kingdom, potentially improving the health of thousands of families.”

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.

“Variant interpretation is really important for the Generation Study, which aims to identify more than 200 conditions in otherwise asymptomatic babies, where symptoms might not present until later in childhood,” said Dr Ellen Thomas, Chief Medical Officer, Genomics England. “By providing expert-curated content for every gene being tested in the study, QIAGEN are supporting our ability to safely return results to participants.”

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.

For over two decades, QIAGEN has brought together the power of hundreds of physicians and bioinformatics expert curators with manual and computational methods to efficiently curate, annotate and analyze complex clinical evidence that are essential for accurate and high-quality reporting.

For the Generation Study, QIAGEN curators provided comprehensive evidence for every variant seen across the 200 conditions included in the study. This focus on human effort, review and certification is critical.

The QIAGEN Clinical Knowledge Base contains biological content from more than 40 databases that has been curated for clinical relevance. It has been used by researchers, clinicians, and pharmaceutical companies for more than 25 years, and has been cited in more than 35,000 scientific publications.

A key differentiator of the QIAGEN Clinical Knowledge Base is how it combines the unmatched accuracy and consistency of QIAGEN’s proprietary expert (MD/PhD) curation with the superior efficiency of machine extraction to efficiently identify, extract and align evidence. The approach ensures scalable, high-quality molecular intelligence that users can trust to augment their own decisions.

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