A seven-year partnership has extended US-based life sciences company LabCorp’s use of QIAGEN’s QCI platform with the latter’s Human Gene Mutation Database for rare and hereditary workflows.
Through the agreement, based on the existing seven-year collaboration, LabCorp will use Qiagen’s HGMD across its laboratories to improve the identification and interpretation of hereditary diseases.
HGMD repository is a component of Qiagen Clinical Insight-Interpret (QCI), a clinical decision platform that delivers evidence-based interpretations for germline or somatic indications.
It provides access to over 260,000 detailed mutation reports, with 18,000 added each year, as well as more than 10,500 summary reports listing all known published inherited disease mutations.
HGMD also offers researchers and physicians information required to transform variant data to actionable insights and enable better interpretation of hereditary diseases.
LabCorp Diagnostics chief scientific officer Marcia Eisenberg said: “Next-generation sequencing has become a powerful tool to identify genetic variants that play a role in inherited diseases, providing a flexible technology platform that allows us to go from large-scale to highly targeted test panels that can be used for both clinical diagnostics and in studies of new therapies and diagnostics.
“Having access to the most comprehensive and up-to-date catalogue of known mutations augments our existing variant classification expertise. This will allow us to continue to provide physicians and researchers with the best possible test interpretations, advancing LabCorp’s mission to improve health and improve lives.”
In the US alone, over 20 million people suffer from hereditary diseases. Genetic testing often does not produce actionable information to deliver better clinical decisions in spite of significant technological advancements.