Qiagen, a Netherlands-based holding company, has launched its Qiagen Clinical Insight (QCI) bioinformatics content and software platform for clinical testing labs to interpret and report on genomic variants identified in next-generation sequencing (NGS). The first two supported applications for the bioinformatics platform are in oncology for somatic and hereditary cancer testing.

The Clinical Insight platform is an evidence-based decision support solution that evaluates genomic variants in the context of published biomedical literature, professional association guidelines, publicly available databases and annotations, drug labels and clinical trials. Using a powerful software platform, the secure QCI web application and Qiagen’s private data center, clinicians can rapidly classify variants, identify treatment options and perform geographical clinical trial matching. QCI is instrument- and assay-agnostic and currently supports both somatic and germline testing. It also provides access to the Allele Frequency Community, a repository of ancestral and ethnic diversity data.

"Qiagen Clinical Insight is the most comprehensive, scalable bioinformatics platform for clinical labs to use in interpretation and reporting of genomic variants from next-generation sequencing data. In creating this platform, we gathered input from more than 100 clinical testing labs and worked with 50 of them to evaluate the QCI content and software in their workflows for laboratory-developed tests," said Dr. Laura Furmanski, head of Qiagen’s bioinformatics business area. "The commercial rollout of QCI is the latest addition to Qiagen’s portfolio of Sample to Insight solutions, including universal sample and assay consumables and a range of resources for bioinformatics that are driving the growth of next-generation sequencing for clinical research and diagnostic labs."

One of the clinical collaborators in evaluating QCI, Dr. Gregory J. Tsongalis, director of the Molecular Pathology and Translational Research Program at the Dartmouth-Hitchcock Medical Center, said, "Getting from raw sequencing data to accurate and timely curation of clinically actionable variants and reporting in a user friendly format for our ordering physicians continues to be a significant challenge for complex molecular testing. Working in collaboration with Qiagen on the development and validation of Qiagen’s new Clinical Insight platform in support of somatic cancer testing has resulted in scalable and reproducible results in addressing our labs unmet bioinformatics needs and challenges."

Dr. Madhuri Hegde, professor of human genetics at the Emory University School of Medicine and executive director of the Emory Genetics Laboratory (EGL), said, "Clinical labs developing and offering NGS-based clinical tests are confronted with two key challenges: the complexity of translating genetic information into actionable insights for ordering physicians and the time and effort it takes to interpret and report clinically relevant variants. Through its collaboration with EGL and other labs on the design and validation of its new QCI offering, Qiagen has developed a deep understanding of these unmet needs. QCI supports both germline and somatic test indication, which is important to labs offering diverse test indications. And it provides full platform and assay agnostic interpretation and reporting workflow support, which enables clinical testing labs to reduce time and cost associated with NGS based testing."