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Qiagen N.V.. (10/19/17). "Press Release: Qiagen Announces High Accuracy of Bioinformatics Solutions in Women’s Health Genetic Screening". Orlando, FL, Germantown, MD & Hilden.

Region Region Orlando, FL
  Country United States (USA)
Organisations Organisation Qiagen GmbH
  Group Qiagen (Group)
  Organisation 2 Counsyl Inc.
  Group Myriad Genetics (Group)
Products Product Qiagen Clinical Insight® (QCI™) bioinformatics content and software platform
  Product 2 DNA testing services
Index term Index term Counsyl–Qiagen: genomic software tools, 201710 supply existent early customer of Qiagen Clinical Insight solution
Person Person Furmanski, Laura (Qiagen 2014–201711 Head of Bioinformatics Business Area RESIGNED END 2017)

Evaluation of clinical variant interpretation platform presented by Counsyl at ASHG 2017

QIAGEN (NASDAQ: QGEN; Frankfurt Stock Exchange: QIA) today announced the results of a study evaluating the accuracy of the QIAGEN Clinical Insight (QCI) solution by Counsyl, a genetic screening and genetic counseling company. In an evaluation, Counsyl — an early QCI adopter — found that it reduced the time required to search for literature references to interpret and score variants by 75 percent while maintaining accuracy. As a result, Counsyl has implemented QCI as an integral part of its literature search process to increase productivity and scalability. Results of the evaluation are presented today in a poster at the American Society of Human Genetics (ASHG).

QCI is a revolutionary clinical decision-support platform that includes software, analytics, and content designed to accelerate the interpretation of clinically relevant genetic variants. It incorporates a comprehensive literature reference bibliography, reported clinical case database, and pre-computed ACMG classification of variants and reporting modules. As part of QIAGEN’s Sample to Insight pipeline, QCI has now been adopted for variant interpretation at several leading clinical laboratories performing routine carrier screening.

Counsyl provides carrier screening, non-invasive prenatal screening, and hereditary cancer screening. These high-quality screenings provide clinically actionable information to providers and help patients make more informed health decisions. Counsyl has screened more than 750,000 patients to date and served more than 10,000 healthcare professionals. The company also employs more than 50 board-certified genetic counselors and has delivered more than 60,000 genetic counseling sessions.

As part of its collaboration with QIAGEN, Counsyl has now implemented QCI to increase the efficiency of its genetic variant curation process to assess pathogenicity. During its evaluation of nearly 2,000 variants, the team of highly trained experts determined that QCI could dramatically reduce the time needed to search for literature references to interpret and score variants while generating results with comparable accuracy to Counsyl’s robust manual curation pipeline. QCI has eliminated the need for manual literature searching for most cases. With this time savings, Counsyl will be able to significantly increase its bandwidth for genetic test interpretation. Future development may allow Counsyl to expand the use of QCI to other components of its clinical workflow.

“Since starting Counsyl, we’ve been meticulously focused on innovation in genetic testing technology and workflow automation in order to improve quality and increase efficiency,” stated Dr. Peter Kang, Executive Medical Director of Counsyl. “We are proud to present our latest research across six accepted posters at this year’s ASHG meeting, including the results of our QIAGEN Clinical Insight analysis. We are committed to scaling our current best practices to ensure that Counsyl testing services can be made available to even more physicians and the patients they serve.”

“Genetic test interpretation is a rate-limiting factor for the adoption and integration of genetic-genomic data at the point of care,” said Dr. Laura Furmanski, Senior Vice President of QIAGEN’s Bioinformatics Business Area. “We are delighted to be collaborating with Counsyl to help patients get reliable answers more quickly for so many important aspects of women’s health.”

The poster reporting Counsyl’s analysis of QCI, “Evaluation of QIAGEN Clinical Insight as a content resource for variant curation in a CLIA laboratory,” by Kambiz Karimi, PhD, et al., is being presented today at 3 p.m. EDT at ASHG in Orlando, Fla. (poster #602).


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 (forensics, veterinary testing and food safety), Pharma (pharma and biotech companies) and Academia (life sciences research). As of June 30, 2017, QIAGEN employed approximately 4,600 people in over 35 locations worldwide. Further information can be found at

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).

Record changed: 2021-07-18


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