QIAGEN has partnered with Genomics England to support the Generation Study, a groundbreaking initiative that will sequence the genomes of 100,000 newborns in England.
The study is aimed at screening more than 200 conditions. Early diagnosis and treatment of rare conditions will be enabled through this effort.
QIAGEN will provide clinically relevant variant content for genes included in the point-of-care sequencing test through its Clinical Knowledge Base.
With testing now underway, this content will support rapid variant interpretation and reporting of sequencing results.
The Generation Study will sequence the genomes of 100,000 newborns to analyse genetic conditions that impact early health.
Launched in October 2024, the national study will screen for over 200 treatable conditions affecting about 3,000 UK babies annually.
Genomics England chief medical officer Ellen Thomas said: “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.
“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 study will detect conditions like Metachromatic leukodystrophy (MLD) in babies earlier. This will enable them to benefit from early diagnosis and treatment that could slow disease progression and extend lives.
The QIAGEN Clinical Knowledge Base provides genomic content, ensuring efficient variant analysis for newborn sequencing. The study benefits from pre-curated knowledge, which is easily compared to each newborn’s DNA.
In the Generation Study, the molecular diagnostics firm supplied comprehensive evidence for every variant across the 200 conditions being studied. This human-driven review and certification is crucial for quality results.
The QIAGEN Clinical Knowledge Base integrates over 40 curated biological databases, combining expert curation with machine extraction.
QIAGEN digital insights head Dominic John said: “When it comes to screening newborns to identify babies at risk for developing a rare disease, there is no room for error.
“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.”
In November last year, the molecular diagnostics firm announced its plans to relocate its QIAstat-Dx operations to Esplugues de Llobregat, near Barcelona in Spain.
