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Early Access Offered to New, Streamlined Interpretation of Patient Sequencing Data

By Labmedica International staff writers
Posted on 09 Dec 2013
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New web-based molecular diagnostics product delivers fast, high-confidence interpretation and reporting of variants from next-generation sequencing data.

QIAGEN Redwood City (Redwood City, CA, USA), formerly Ingenuity Systems and now part of QIAGEN, has begun enrolling molecular diagnostics laboratories in an Early Access Program to complete the development of 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. The Early Access Program was announced at the 2013 (November) annual meeting of the Association for Molecular Pathology (Phoenix, AZ). The initial part of the program is to conclude by end 2013, paving the way for early 2014 launch of a larger beta program. Interested laboratories can learn more online (please see Related Links below). 

The new solution draws upon the vast clinical and genomic data in the expert-curated Ingenuity knowledge base. It will be 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 will provide clinical labs with automated scoring, interpretation, and reporting of findings in standardized, HIPAA Safe Harbor-compliant formats.

The product at present is especially suitable for molecular diagnostics by clinicians such as molecular pathologists and medical geneticists. For example, in scaling variant interpretation of NGS panels and exomes NGS is being adopted by molecular diagnostic laboratories to assess multiple genes for cancer and hereditary diseases rather than conventional single gene tests. The complexity associated with the large number of variants detected combined with the growing number of genes associated with diseases in clinical cases contribute to the interpretation bottleneck. Ingenuity’s curated content and analytic tools streamline and scale variant classification by incorporating phenotype information and up-to-date content into a scalable, repeatable, automated decision making workflow.

"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."

"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, medical geneticist and 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."

Related Links:

QIAGEN Redwood City
NGS Clinical Test Interpretation and Reporting Solution Beta Program

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Sekisui Diagnostics



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