Variant detection of multiple genes from a single tumor sample requires high-throughput molecular testing. To meet this demand, targeted next-generation sequencing (NGS) panels are useful in clinical settings for accurate tumor profiling and the identification of essential molecular aberrations for personalized therapies. By focusing only on a subset of genes, targeted NGS is not only a cost-effective solution, but can rapidly deliver insights into a tumor molecular profile.
To address this challenge, a clinical research team led by Dr. Michela Bulfoni at the Istituto di Anatomia Patologica designed custom NGS panels, named “Glioma” and “Routine Diagnostics”, targeting single nucleotide variations, insertions/deletions, fusions, and copy number variations of tumor-associated essential genes.
In this webinar, attendees will:
Understand the clinical utility of custom-designed NGS panels for accurate tumour diagnosis
Learn about the design and application of these NGS panels
Gain insights into the cost-effectiveness and high sensitivity of NGS panels in improving sample throughput
QCI Interpret's latest software update comes with several new features, including a new workflow for comprehensive cancer panels and greater variant coverage for labs using the GRCh38 reference genome
We are pleased to announce that the Summer 2022 Release of QCI Interpret, QIAGEN’s decision support software platform for the annotation, classification, and reporting of actionable alterations from next-generation sequencing (NGS) data in clinical genomic laboratories, is now available. Expanding on the software’s current capabilities, the QCI Interpret Summer 2022 Release brings new workflows, variant content and functionality improvements.
QCI Interpret is a clinical decision support software platform for the annotation, classification, and reporting of actionable alterations from NGS data for oncology and hereditary disease applications. Using augmented molecular intelligence and expertly curated content from the QIAGEN Knowledge Base, QCI Interpret applies a rules-based approach to automatically compute pathogenicity classifications (Pathogenic to Benign) and actionability classifications (Tier 1 to 4) for each alteration according to professional guidelines from ACMG/AMP and AMP/ASCO/CAP, respectively.
Pathogenicity and actionability classifications in QCI Interpret are accompanied by clear visibility into the criteria and evidence supporting the classifications. This workflow starts with a variant call format (VCF) file, so it is compatible with the output from any NGS platform. The final report includes the alterations, interpretations, and references specified throughout the assessment process, which has customizable automation capabilities allowing for streamlined clinical decision support workflows.
Learn more about QCI Interpret for Oncology here.
Learn more about QCI Interpret for Hereditary Diseases here.
Check out this recent article by American Health Leader (AHL) on how QIAGEN is helping clinical diagnostic and pathology labs adopt genomics-guided precision medicine workflows.
Sean P. Scott, Chief Business Officer and Vice President of Clinical Market Development at QIAGEN, explains QIAGEN’s holistic approach to developing and expanding NGS-based test services. “No matter the size of the lab, we’re focused on helping them understand how to develop a more insightful and actionable report for the ordering physician . . .”
Read the full article here!
QCI Interpret makes precision medicine possible by offering one, cloud-based platform to handle a range of genomic testing, from somatic to germline, from small panels to exome and whole genome.
Get in touch with one of our QCI Interpret experts today!
If you answered yes, we invite you to watch a free recording of our webinar that addresses one of the key bottlenecks of today’s clinical testing laboratory: producing standardized interpretation that is consistent among personnel, reproducible within the testing community, and in accordance with professional guidelines. We show how our clinical NGS reporting and interpretation software, QCI Interpret, not only makes precision medicine possible, but simplifies workflows and increases productivity.
We are proud to share an article written by Ramon Felciano, Chief Technology Officer and Vice President, Strategy & Technology, QIAGEN Bioinformatics, that was featured in The Pathologist, a UK-based publication that considers the latest research and innovation in pathology and diagnostics. Titled “Deciding Factors,” the article shines a light on new trends in clinical labs that are improving the accuracy and efficiency of genetic test interpretation. It argues that these advances are made possible with clinical decision support (CDS) tools, which incorporate big data, sophisticated informatics, and augmented intelligence (as opposed to artificial intelligence), to better inform treatment decisions, manage liability risk, and ensure compliance with ever-changing data privacy regulations.
The adoption and implementation of CDS tools is no longer a luxury, but rather a necessity. Just a few years ago in the United States, only pre-eminent academic medical centers offered precision medicine. As stated in the article, “Today, an estimated 24 percent of hospitals will provide some form of precision medicine by the end of 2018.”(1) With the use of CDS tools and related technologies gaining traction, clinical teams need to ensure they select support tools that provide maximum interpretation transparency and detailed reporting. Dr. Felciano explains how CDS tools are personnel assets—not replacements—that enhance productivity, reliability and the practice of precision medicine.
(1)N. Versel, “Data requirements, money hold back growth of precision medicine among health systems” (2018). Available at: https://bit.ly/2qFSb60. Accessed April 18, 2018.
Clinical lab managers are constantly under pressure to do more with less. Launch more tests, review more information – in less time and for less money. We believe clinical lab members are heroes for their ability to rapidly generate accurate, actionable information that significantly improves patient care. We also believe that better informatics tools could go a long way to easing the pressure these people face every day.
In a new white paper, we review some of the major challenges associated with clinical genomics testing, along with details about how automated interpretation solutions and high-powered, curated databases can address some of these problems. Here are the four key challenges we tackle:
We discuss how each challenge contributes to the ongoing risks of managing a clinical laboratory – in terms of financial operation, technology selection, and analytical support.
Review the full white paper to learn more.
