- Study highlights the challenges for standard and accurate oncology NGS interpretation to support Precision Medicine
- Study demonstrated a 28% disagreement between laboratories classifying the same NGS oncology variants, while interpretation leveraging QCI Interpret and the QIAGEN Knowledge Base demonstrated only 9% disagreement between QCI and a panel of experts
- Results underscore the readiness of QCI software to digitally transform and improve the standardization, accuracy, reporting and turn-around-time for clinical NGS reporting
Redwood City, California, August 2, 2022 -- QIAGEN Digital Insights, the bioinformatics division of QIAGEN, today announced the publication in the Journal of Molecular Pathology of an externally facilitated clinical NGS interpretation validation study, demonstrating that its clinical decision support software, QIAGEN Clinical Insight Interpret One (QCI Interpret One), achieves a higher level of concordance with a panel of experts than human reviewers achieve amongst each other.
The study commissioned by QDI and carried out independently by Genomics Quality Assessment (GenQA), investigated classification of variants reported from oncology patient samples. Eight laboratories engaged in a blind study to analyze and submit their variant classifications using their standard laboratory processes, software, and databases. The results were then compared by GenQA to the computer-generated classifications determined by QCI Interpret One, an automated variant filtering, classification, interpretation and reporting software platform from QDI. The full article can be reviewed at https://www.mdpi.com/2673-5261/3/3/12w.
“In the era of Precision Medicine, it’s remarkable how unprecise NGS interpretation is. There’s a clear opportunity for bioinformatics to help with the standardization, scaling and improved accuracy of interpretation that guides treatment,” said Jonathan Sheldon, Executive VP of QIAGEN Digital Insights. “The remarkable improvement in concordance we see from QCI Interpret One is only possible due to our unique augmented intelligence approach. Shaped over 20 years, we have built a high-quality Knowledge Base that is proven and scientists can trust. Over 200 Ph.D. scientists working alongside highly efficient automated natural language processing techniques to curate knowledge has enabled us to deliver the depth, breadth and quality that ensures completeness and accuracy needed to support clinical decisions.”
QDI commissioned the independent study from GenQA, a global external quality assessment organization in the field of genomics, to validate the quality of its variant classification. Eight laboratories submitted de-identified samples from both solid tumors and hematologic disorders to GenQA for analysis, providing their own classifications for comparison, and the samples were redistributed to the laboratories for independent assessment using QCI Interpret One as well as analysis using their own internal interpretation methods. The data was collected and collated by GenQA. Variants that were discordant between QCI Interpret One and the original or second laboratories were submitted to a panel of experts, composed of one representative from each of the eight participating laboratories.
The analysis revealed that only 9% of relevant variants (14/149) were found to be discordant between QCI One and the laboratories after expert panel review. In contrast, 28% of relevant variants (41/149) reflected discrepancy among human reviewers. The rate of disagreement among experts was greater than the rate of disagreement between QCI Interpret One and the expert panel. The results clearly demonstrate that QCI Interpret One is a reliable tool to facilitate variant interpretation in clinical laboratories. It has the capability to reliably assist in the standardization of variant interpretation while simultaneously helping laboratories to scale to higher volumes in the face of larger and larger diagnostic panels.
“GenQA was excited to engage in this project, leveraging our global connections and our skills and expertise in assessing laboratories engaged in genomic variant detection and interpretation,” said Professor Zandra Deans, Consultant Clinical Scientist and GenQA Director. “The degree of variance detected in interpretation across laboratories highlighted the need for and the systemic implementation of consensus guidelines along with rigorous quality assessment for somatic variant interpretation. The external assessment of software systems like QCI helps laboratories to reliably streamline the process.”
QCI Interpret One is a clinical decision support software that facilitates the classification and prioritization of genetic variants utilizing QIAGEN’s unparalleled knowledge base of curated scientific literature and information. The system combines standardized human processes with augmented intelligence to maximize the scalability and accuracy of the application. QCI Interpret One accesses content that has been identified, analyzed, and processed into computable units by a large team of MD and Ph.D. scientists. Manual curation is augmented using several methods such as natural language processing (NLP) and text mining processes to assist in text mining and identification of literature. The application executes rules based on the ACMG and AMP guidelines for pathogenicity and actionability to derive disease-specific classifications for each variant that are presented for review. The system also accesses expert-curated content from a team of Ph.D. and oncologists, providing holistic assessment of literature and report-ready content.
About QIAGEN Digital Insights
QIAGEN Digital Insights, the bioinformatics business of QIAGEN, is the leading provider of genomic and clinical knowledge, analysis and interpretation tools and services for scientists and clinicians. We have over 25 years of experience in the industry, 90,000 users worldwide, over 100,000 citations in scientific papers, more than 3 million profiled patient cases and over 40 billion scientific data points. Discover our portfolio of expertly curated genomic and clinical knowledge solutions as well as bioinformatics software and services for efficient data management, sharing and actionable insights. Learn more at https://digitalinsights.qiagen.com/.
About QIAGEN
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. Ouar 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 March 31, 2021, QIAGEN employed more than 6,000 people in over 35 locations worldwide. Further information can be found at http://www.qiagen.com.
About GenQA
Genomic Quality Assessment (GenQA) is an External Quality Assessment (EQA)/Proficiency Testing provider. Advances in our understanding of genomic diseases and medicine has led to a revolution in testing technologies and GenQA is committed to delivering exceptional external quality assessment in this rapidly evolving field. GenQA prides itself on being the sole genomics EQA provider to cover the entire clinical genomics service, from patient counselling, sample preparation, testing processes, results interpretation and reporting. GenQA EQAs are accredited to the international standard for Proficiency Testing, ISO17043 to ensure the quality of the service provided to participants. At GenQA, laboratories and individual clinicians have access to more than 100 unique EQAs; available for a range of rare and inherited disorders and acquired diseases and prepared in our purpose-built genomic laboratory. Objective information and advice are offered to diagnostic laboratories and clinical genetics centres determining germline and somatic variant testing, classification and interpretation for routine genomic testing and specialist testing covering preimplantation genetic testing (PGT), non-invasive prenatal testing (NIPT), newborn screening, as well as molecular pathology.
Forward-Looking Statement
Certain statements contained in this press release may be considered forward-looking statements within the meaning of Section 27A of the U.S. Securities Act of 1933, as amended, and Section 21E of the U.S. Securities Exchange Act of 1934, as amended. To the extent that any of the statements contained herein relating to QIAGEN's products, collaborations markets, strategy or operating results, including without limitation its expected adjusted net sales and adjusted diluted earnings results, are forward-looking, such statements are based on current expectations and assumptions that involve a number of uncertainties and risks. Such uncertainties and risks include, but are not limited to, risks associated with management of growth and international operations (including the effects of currency fluctuations, regulatory processes and dependence on logistics), variability of operating results and allocations between customer classes, the commercial development of markets for our products to customers in academia, pharma, applied testing and molecular diagnostics; changing relationships with customers, suppliers and strategic partners; competition; rapid or unexpected changes in technologies; fluctuations in demand for QIAGEN's products (including fluctuations due to general economic conditions, the level and timing of customers' funding, budgets and other factors); our ability to obtain regulatory approval of our products; difficulties in successfully adapting QIAGEN's products to integrated solutions and producing such products; the ability of QIAGEN to identify and develop new products and to differentiate and protect our products from competitors' products; market acceptance of QIAGEN's new products and the integration of acquired technologies and businesses. For further information, please refer to the discussions in reports that QIAGEN has filed with, or furnished to, the U.S. Securities and Exchange Commission (SEC).