QIAGEN Offers Clinical Labs Early Access to Solution for Streamlined Interpretation of Patient Sequencing Data

26 Nov 2013
Sonia Nicholas
Managing Editor and Clinical Lead

QIAGEN N.V. has announced that it has begun enrolling molecular diagnostics laboratories in an Early Access Program for a new web-based solution to deliver faster, easier-to-use and high-confidence clinical interpretation and reporting of observed gene variants in data from next-generation sequencing (NGS)-based tests.

QIAGEN is announcing the program at the annual meeting of the Association for Molecular Pathology (AMP) taking place November 14-16 in Phoenix, Arizona.
QIAGEN also announced the formation of the Ingenuity Scientific Advisory Board, made up of healthcare and academic leaders in medical genetics, genomics and bioinformatics. This board will advise and assist the Company in research and product development initiatives focused on clinical applications.

“NGS is a transformative medical tool with the potential to improve patient outcomes by accurately detecting and characterizing diseases at earlier stages, but the challenge in diagnostic labs is to efficiently sift through huge amounts of data and extract high-confidence, actionable answers,” said Sean Scott, Senior Vice President of Business Development at QIAGEN Redwood City. “This new solution will simplify and streamline the interpretation and reporting process and provide consistent, high-quality and actionable results for use in clinical research and decision making.”

The new interpretation and reporting solution draws upon the vast clinical and genomic data in the expert-curated Ingenuity Knowledge Base. It is the first product in the Ingenuity portfolio that is specifically designed to address major challenges of scale, speed and decision support that healthcare laboratories face with the adoption of NGS-based applications. The time required to make accurate clinical assessments of variants – especially as tests move from single-gene to multiple-gene to panels, exomes and whole genomes – is becoming a fundamental bottleneck and is slowing the adoption of these data in clinical applications. The new solution provides clinical labs with automated scoring, interpretation and reporting of findings in standardized, HIPAA Safe Harbor-compliant formats.

Early Access Program members include Partners Healthcare, Emory Genetics Laboratory, GeneDx, and a number of other leading commercial and academic labs. These collaborators provided important input into the development of the Ingenuity solution. A larger beta program will launch in early 2014.


“I am excited to join my esteemed colleagues on the Scientific Advisory Board and to continue working closely with the Ingenuity team on the rollout of this powerful new application”, said Dr. Sherri Bale, a medical geneticist, who is Managing Director and Co-founder of GeneDx and Senior Vice President of BioReference Laboratories. “It will relieve a critical bottleneck and get actionable genomic information into the hands of clinicians.”

The Ingenuity Scientific Advisory Board includes:


• Sherri Bale, Ph.D., FACMG, Managing Director and Co-founder, GeneDx; Senior Vice President, BioReference Laboratories; Founding Member of the American College of Medical Genetics
• Doug Bassett, Ph.D., SAB Chairman, Chief Technology and Scientific Officer, QIAGEN Redwood City
• Hakon Hakonarson, M.D., Ph.D., Director of the Center for Applied Genomics; Associate Professor of Pediatrics, The Perelman School of Medicine, University of Pennsylvania
• Madhuri Hegde, Ph.D., FACMG, Professor, Emory University School of Medicine, Department of Human Genetics; Executive Director of the Emory Genetics Laboratory
• Elaine R. Mardis, Professor of Genetics and Molecular Microbiology, Co-director, The Genome Institute at Washington University School of Medicine
• Heidi L. Rehm, Ph.D., FACMG, Associate Professor of Pathology, Harvard Medical School; Laboratory Director, Partners Healthcare Center for Personalized Medicine, Harvard Medical School
• Eric Schadt, Ph.D., Director of the Icahn Institute for Genomics and Multiscale Biology, Chair of the Department of Genetics and Genomics Sciences and the Jean C. and James W. Crystal Professor of Genomics.
• Jay Shendure, M.D., Ph.D., Associate Professor of Genome Sciences, University of Washington; Affiliate Professor, Division of Human Biology, Fred Hutchinson Cancer Research Center

Representatives of QIAGEN Redwood City will discuss the new clinical interpretation solution at the AMP annual meeting in exhibition stand 1016 and in a corporate workshop on Wednesday, November 13. For more information please visit ingenuity.com/AMP-2013

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