QIAGEN’s hereditary disease knowledge extended to NHS Genomic Medicine Service
Feb 04 2019

QIAGEN’s hereditary disease knowledge extended to NHS Genomic Medicine Service

HGMD Human Gene Mutation Database to continue to support genetic testing efforts in UK

Hilden, Germany, and London, United Kingdom, February 4, 2019 – QIAGEN N.V. (NYSE: QGEN; Frankfurt Prime Standard: QIA) today announced that Genomics England have extended the contract for QIAGEN’s HGMD® Human Gene Mutation Database offering on behalf of the NHS in England. The selection of HGMD by Genomics England on behalf of the NHS validated the critical importance of high-quality databases of expert curated disease knowledge when deploying precision medicine capabilities at scale.

Under the terms of the agreement with Genomics England on behalf of the NHS, QIAGEN will support a national network of UK laboratories that are providing all genetic testing for National Health Service (NHS) patients across the country.

Of more than 4,000 known genetic disorders, some are apparent at birth while others do not surface until later in childhood or even adulthood. The nonprofit Genetic Disorders UK estimates that each year 30,000 babies and children in the United Kingdom – one in 25 children – are affected by a genetic disorder.

“Rare and hereditary diseases often create a difficult diagnostic odyssey for patients, families and healthcare systems. Recognizing this challenge, NHS England has had the foresight to adopt genome sequencing, guided by HGMD, a component of QCI, is considered to be the de-facto standard repository for heritable mutations and used by the world’s leading clinical geneticists, to help identify hereditary diseases and appropriate treatments,” said Dr. Jonathan Sheldon, Senior Vice President and Head of QIAGEN’s Bioinformatics Business Area. “We have a longstanding collaboration with Genomics England and the 100,000 Genomes Project, which has collected whole genomes to generate actionable insights from a massive pool of next-generation sequencing data. We are delighted to extend this relationship into providing decision support resources for the diagnostics network of the National Health Service. This validates the importance of QIAGEN’s bioinformatics solutions in the interpretation of germline diseases, and QIAGEN Clinical Insight, which leverages HGMD as part of the QIAGEN Knowledge Base and automates expert guidelines, for clear pathogenicity and actionability, resulting in better informed clinical decisions for any indication, germline or somatic.”

“We value QIAGEN’s commitment to deliver the highest quality of manually curated knowledge for analysis and interpretation of content through its extensive and comprehensive portfolio of solutions that enable accurate and standardized clinical reporting. Our experience of using QIAGEN’s HGMD for the 100,000 Genomes Project guided our decision to continue to rely upon this industry-leading resource,” said Augusto Rendon, Director of Bioinformatics and Genomics England. “Next-generation sequencing is a valuable tool for diagnosing and suggesting potential treatment approaches, but it is critical for healthcare providers to be able to interpret NGS data in the context of the vast body of knowledge from research and clinical experience. The exhaustive knowledge in HGMD enables us to do this, by providing the best possible care.”

The HGMD agreement is expected to benefit the NHS and its patients by providing:

  • Clinical insights for hereditary diseases: QIAGEN’s HGMD Online Professional solution, which is part of the QIAGEN Clinical Insight (QCI) portfolio of solutions for the interpretation of complex genomic data, is a gold-standard resource with comprehensive data on inherited disease mutations, including over a quarter of a million detailed mutation reports and more than 10,500 summary reports listing all known inherited disease mutations.
  • Most comprehensive collection of expertly curated genomic content from scientific literature: Knowledge manually curated by hundreds of experts in the field of genetics, QIAGEN’s bioinformatics solutions offer research and clinical laboratories an easy-to-use database to connect disparate genetic and clinical findings, identify inheritance patterns and correlate these results with individual patient results. 
  • Cloud-based access and in-house availability: The agreement gives NHS England access to HGMD Online, a part of the QCI portfolio, for all NHS users in England, as well as download content from the database for use in each Genomic Lab Hub’s internal informatics pipeline. 
  • Advancing genomic medicine: The HGMD agreement will accelerate progress in developing the NHS Genomic Medicine Service by supporting standardized interpretation for germline diseases. Recently, NHS England consolidated and enhanced its laboratory services to provide world-class genomic testing through a single national testing network.

The QCI portfolio is experiencing ultra-fast growth and is quickly advancing to become a standard solution for the rapidly growing need for analysis and interpretation of genomic data. The interpretation capabilities of QCI spans a wide range of diseases, both germline and somatic. The HGMD knowledge base within QCI is a gold-standard resource with comprehensive data on inherited disease mutations, including over a quarter of a million detailed mutation reports and more than 10,500 summary reports listing all known published inherited disease mutations. Curated by experts in the field of genetics, HGMD offers research and clinical labs an easy-to-use database with advanced search functionality to connect disparate genetic and clinical findings and identify inheritance patterns. QCI has been cited in more than 14,500 scientific publications.

For more information, please visit https://www.qiagenbioinformatics.com/products/human-gene-mutation-database/


QIAGEN N.V., a Netherlands-based holding company, is the leading global provider of Sample to Insight solutions that enable customers to gain valuable molecular insights from samples containing the building blocks of life. Our sample technologies isolate and process DNA, RNA and proteins from blood, tissue and other materials. Assay technologies make these biomolecules visible and ready for analysis. Bioinformatics software and knowledge bases interpret data to report relevant, actionable insights. Automation solutions tie these together in seamless and cost-effective workflows. QIAGEN provides solutions to more than 500,000 customers around the world in Molecular Diagnostics (human healthcare), Applied Testing (primarily forensics), Pharma (pharma and biotech companies) and Academia (life sciences research). As of September 30, 2018, QIAGEN employed approximately 4,900 people in over 35 locations worldwide. Further information can be found at http://www.qiagen.com.

Forward-Looking Statement

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