On March 2, 2022 QIAGEN reported a new two-year licensing agreement with NHS England and NHS Improvement, one of the four public healthcare systems in the United Kingdom. NHS England and NHS Improvement will use QIAGEN’s HGMD Online Professional, the largest, human-certified curated resource for finding disease-causing genetic variants, to support scientists and clinician across its network of 7 NHS Laboratory Hubs (GLHs) in England with clinical reporting and interpretation of genomic data from patients affected by rare genetic disorders (Press release, Qiagen, MAR 2, 2022, View Source [SID1234609437]).
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The agreement marks a significant milestone in QIAGEN’s longstanding collaboration with the NHS and builds on the selection of HGMD Professional by Genomics England to support the 100,000 Genomes Project. This now-completed UK Government initiative sequenced 100,000 complete genomes from individuals with hereditary cancer or rare diseases to improve the diagnosis and future care of genetic disorders. The continued use of HGMD also supports the NHS’s ongoing mission to expand the diversity and reach of genomics in the UK to enable faster, more comprehensive genomic testing on a national scale.
In the UK, more than half a million children and adults are currently affected by genetic diseases, with approximately 30,000 babies born each year with a genetic disorder.1 The new Genome UK strategy aims to analyze five million genomes in the UK by 2023/2024, including the sequencing of 500,000 whole genomes through the NHS Genomic Medicine Service.
"We are honored to provide this service to the NHS and to put the most detailed, up-to-date evidence-based genomic information into the hands of scientists and clinicians performing genetic testing," said Jonathan Sheldon, Senior Vice President and Head of QIAGEN Digital Insights. "HGMD Professional offers users a digital encyclopedia of peer-reviewed genetic information, enabling confident diagnoses in a much more efficient and targeted manner. Our teams at QIAGEN Digital Insights are continuously striving to deliver valuable molecular insights and clinical bioinformatics solutions that will enable predictive, preventative, and personalized care with confidence, and that improve patient outcomes."
Founded and maintained in 1996 by the Institute of Medical Genetics at Cardiff University, Wales, QIAGEN’s HGMD Professional attempts to collate all known (published) gene lesions responsible for human inherited disease, giving users the confidence that the catalogued mutation is properly reported and relevant.
Unlike new machine learning or artificial intelligence platforms that rapidly index millions of journal articles for mutations, HGMD Professional leverages human judgement and expertise – every catalogued genetic variant has been "touched" by a trained scientist to ensure accuracy, relevance, and context. To date, HGMD Professional contains over 352,000 detailed reports on individual gene variants, with over 45,000 new reports added in 2021 alone.
With more than three decades of experience in variant curation, QIAGEN understands the challenges labs face as next-generation sequencing (NGS) advances. The QIAGEN Clinical Insights (QCI) portfolio consists of QIAGEN’s clinical decision support software and molecular databases, including HGMD Professional, the Catalogue Of Somatic Mutations In Cancer (COSMIC), and the most recently added Human Somatic Mutation Database (HSMD)."