Clinical
Tuesday, June 13, 2017

Advancing the pace of NGS

Accelerating the deployment of precision medicine capabilities

How a leading academic hospital is analyzing complex clinical data and uncovering new medical insights with powerful precision medicine solution, QIAGEN Clinical Insight.

Next-generation sequencing (NGS) creates transformative opportunities to expand our understanding of biomedicine, reshape clinical care, and improve human health. NGS also opens broad vistas for innovation and technology.

At the University of Copenhagen, under Finn Cilius Nielsen, M.D., the Center for Genomic Medicine, Rigshospitalet, is implementing the QIAGEN Clinical Insight™ (QCI) platform QIAGEN’s Ingenuity Variant Analysis™ (IVA) platform to match patients with metastatic or refractory cancers with targeted therapies and clinical trials based on their molecular profiles. In a recent study of these QIAGEN technologies, in over 60% of cases of patients that were non-responders to first-line therapy, IVA rapidly identified a clinically-actionable oncodriver mutation that enabled these patients to enroll in clinical trials and targeted therapies based on their unique genetic profile.

What all of these mutations have in common is that they have been the subjects of several scientific publications, or are documented to be related to the outcome of specific therapies. They have been selected utilizing QIAGEN’s Ingenuity Knowledge Base, a unique large-scale information resource for interpretation and selection of molecular content containing more than 13 million facts and findings about disease genetics. One example is a mutation on the ERBB2 gene, which can occur in lung, breast, ovary, and bladder cancer, suggesting a similar mechanistic role in cancers across traditional organ-based classifications. At the end of 2015, this variant was the topic of at least 27 scientific articles, including clinical case reports that document if and when cancer patients with this variant had a positive response to a targeted treatment. QIAGEN’s Ingenuity Knowledge Base comprehensively collects such facts, as well as details on where the gene variant may be relevant in professional treatment guidelines or tied to enrollment criterial for Phase III clinical trials.

While IVA is built on QIAGEN’s Ingenuity Knowledge Base, so is QCI Interpret, an advanced software platform that provides clinical labs with easy-to-use, automated workflows to rapidly process patient tests and deliver clear, evidence-based clinical reports to physicians and their patients. With QCI’s clinical decision support capabilities, a patient’s NGS test results can be interpreted and reported with confidence and accuracy to deliver the clinical benefits of precision medicine. Combining the industry’s highest level of expertise and innovation, QCI saves time by zeroing in on the most clinically-relevant knowledge, and interprets it automatically by applying AI techniques to lab-selected reporting policies and clinical standards, such as the ACMG and AMP genetic interpretation guidelines. This automation dramatically reducing the time it takes to interpret a patient’s test result from hours to days to less than 15 minutes.

The QCI platform provides a simple, secure, and scalable platform, for both software and content, to deliver high-confidence NGS interpretation workflows that deliver actionable insights into a patient’s specific disease genetics and treatment options. QIAGEN’s IVA and QCI Interpret products leverage this shared technology platform to deliver powerful capabilities across translational and clinical testing applications. QCI Interpret provides a particularly complete solution for NGS testing labs who want fast, trusted interpretation and reporting of patient tests, and enables these labs to rapidly launch new NGS tests and scale up operations cost-effectively. QCI provides a crucial step for the acceleration of precision medicine capabilities—transparent evidence that can be distributed and retrieved in real-time for better decision-making.

As stated by Dr. Nielsen, “There is no doubt that we should do genomic tests as early as possible. When we come in very early, we know that we can actually change the course of disease for the patient.” The clinical use of precision medicine will benefit strongly from an agile interpretation and reporting solution that assures clinicians and patients of the reliability, safety, and validity of diagnostic tests results. Just as IVA has informed patient-specific variant discoveries, QCI too will drive the delivery of high-quality, evidence-based clinical genetics decision-making to the bedside to enhance patient care and outcomes.

By advancing the pace of NGS technologies and applications, QCI can enable any organization to harness the power of precision medicine to improve population health worldwide.

Learn more about QIAGEN Clinical Insight 

 


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