Clinical and Translational

Next-generation sequencing (NGS) has transformed the field of genetic testing, enabling rapid and cost-effective identification of genetic variants associated with inherited diseases. QIAGEN's new groundbreaking Sample to Insight Hereditary solution combines an actionable exome panel built from Human Gene Mutation Database (HGMD) variant information, the fastest and cheapest secondary analysis in the market, and trusted variant interpretation and reporting software powered by augmented molecular intelligence. Get a first-hand look at QIAGEN’s new Sample to Insight Hereditary solution. By attending this webinar, you will: Learn more about each workflow component. Hear from experts in the field as they discuss how this technology advances the diagnosis and management of inherited diseases. Examine real-world case studies demonstrating the clinical utility and cost-effectiveness of the solution. If your lab needs a fast, cost-effective, ultra-precise workflow for germline NGS testing, you do not want to miss this webinar.

From Information Overload to Actionable Insights Precision medicine is transforming cancer care, with next-generation sequencing (NGS) enabling the simultaneous analysis of multiple genomic alterations with therapeutic implications. However, due to the sporadic nature of somatic cancers and the increasing uptake of NGS testing, the number of detected variants is exponentially growing, challenging labs to confidently identify meaningful mutations that could influence or improve decisions at the point of care. Approximately 50 percent of the oncologists in the United States find NGS results sometimes or often difficult to interpret, while 31 percent of small to medium-sized labs in Europe view a lack of knowledge and exposure to routine analyses and interpretation as the most critical bottleneck in NGS testing [1-2]. In this webinar, Ana Krivokuca will present a real-world use case of how the Institute for Oncology and Radiology of Serbia (IORS), a national cancer research center that provides routine NGS testing for cancer patients, uses the Human Somatic Mutation Database (HSMD) in their NGS testing pipeline to validate, assess, and better understand the clinical significance of detected variants. A new somatic database from QIAGEN, HSMD combines two decades of expert-curated content with data from over 300,000 real-world clinical oncology cases to provide deep genomic insight into the molecular characterizations of a patient’s tumor. Easy to search with new content added weekly, HSMD enables users to explore key genes or mutations with driving properties or clinical relevance, search for associated treatment options, evaluate secondary findings, and develop customized gene panels. Attendees will: Learn how IORS uses HSMD to identify actionable variants, analyze complex reports, evaluate secondary findings, and design custom gene panels. Explore HSMD content and features through a virtual demonstration. Receive a complimentary, five-day trial of HSMD. Speaker: Ana Krivokuca, PhD Head of Department for Genetic Counseling Institute for Oncology and Radiology of Serbia

Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can range in size from tens of bases to megabases and are an important source of both normal and pathogenic genomic variation. However, CNV interpretation requires collecting and evaluating multiple types of evidence from many sources, which has posed challenges for consistent, high quality clinical interpretation of CNVs. In this webinar, we will introduce a genomic variant analysis, interpretation and reporting solution that is being used by major labs and population health programs around the world. QCI Interpret is clinical decision support software that accelerates variant interpretation and reporting by automating curation workflows, dynamically computing variant classifications according to professional guidelines, and generating customized, patient-specific reports. The recent update of QCI Interpret further supports the interpretation and reporting of CNVs. Over 60,000 expert-curated CNV literature references have been added to QCI Interpret that the software can use among other evidence for interpretation, including generating auto-classifications of CNV pathogenicity with full transparency using the new ACMG/ClinGen CNV guidelines for hereditary workflows. Attend this webinar, and you will learn: About the new CNV features and content in QCI Interpret, including how the software computes CNV pathogenicity and improves handling of CNVs and splice variants at the imprecise exon- and precise breakpoint-levels How QCI Interpret helps you quickly evaluate your CNVs to determine if same/similar CNVs have been observed in clinical cases or as common genetic variants How QCI Interpret has new CNV classification functionalities following the new ACMG/ClinGen guidelines for the interpretation and reporting of constitutional CNVsSpeaker: Dr. Martin Jones, Global Product Owner, QIAGEN Digital Insights

Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify potentially actionable genetic alterations and exploit the molecular vulnerabilities of cancer is becoming increasingly difficult. Due to the sporadic nature of somatic cancers, the number of detected variants is exponentially growing, challenging scientists to confidently identify meaningful mutations that could influence or improve decisions in experimental design, at point-of-care, or in drug development. In this webinar, we will introduce you to the Human Somatic Mutation Database (HSMD)—a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Available as a web-based application, this expert-curated resource contains content from over 300,000 real-world clinical oncology cases combined with content from the QIAGEN Knowledge Base, providing gene-level, alteration-level, and disease-level information including clinically observed gene and variant frequencies across diseases. Users can easily search and explore mutational characteristics across genes, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant. In addition, users can interrogate a bibliography of over 150,000 variant specific PubMed articles and access individual summaries alteration-type specific information written by PhD scientists. In this webinar, you will learn: What content sources power HSMD How to use and apply HSMD for multiple applications, including research, molecular testing, and pharmaceutical development When and where you can access HSMD

This webinar will discuss a unique study that used whole-exome sequencing to understand exceptional survival in a patient with a very rare metastatic cancer, uterine leiomyosarcoma (uLMS), an aggressive sarcoma of the smooth muscle layer of the uterus manifested in high local recurrence and metastatic rate. In this webinar, Tatiana Omelchenko, Deep Pandya, and Jean-Noël Billaud will present a case study of a treatment-naive patient with aggressive metastatic uLMS and multiple pulmonary metastases who has experienced long-term survival for more than seven years without therapy except for surgery. The speakers analyzed five tumors — one primary and four lung metastases — for shared and unique mutational and transcriptional expression signatures to explore and identify mechanisms of uLMS tumor growth and metastasis in this patient. Attendees of this webinar will learn: Which mutations and pathways were identified as potential regulators of tumor growth in the patient How a combination of variant analysis and transcriptomic analysis enabled the identification of potential drivers of metastatic processes and which bioinformatics tools were used What mechanisms and targeted therapy strategies the speakers proposed for this uLMS patient and how these recommendations apply to other sarcomas with specific genomic alterations Speakers: Tatiana Omelchenko, Ph.D. Research Specialist, Rockefeller University Deep Pandya Research Associate, Danbury Hospital, Nuvance Health Jean-Noël Billaud, Ph.D. Senior Principal Scientist, Qiagen Digital Insights

In this webinar, Moritz Schütte, head of next-generation sequencing data analysis at Alacris, will explore the advantages of RNA sequencing alone or in combination with whole-exome sequencing as part of a precision oncology workflow. In addition to discussing how RNA-seq identifies molecular alterations and illuminates the tumor microenvironment, Dr. Schütte will explain how mathematical modeling of molecular data can predict drug sensitivity. Applications will be shown for metastatic melanoma and acute lymphoblastic leukemia. In this webinar, you will learn: How comprehensive analysis is able to detect actionable targets not accessible by panel analysis; How deep transcriptome profiling gives insights into the tumor microenvironment and immune composition; How transcriptome sequencing can be applied for molecular profiling of acute lymphoblastic leukemias in relapse; How mechanistic modeling offers a highly complementary information layer and enables in silico testing of drug response.

Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in size and complexity. QIAGEN Clinical Insight (QCI) Interpret One is clinical decision support software integrated with professional variant interpretation services that enables rapid, evidence-based reporting of oncology NGS tests at scale. Connected to the world’s most comprehensive, manually curated knowledge base that is updated weekly, QCI Interpret One dynamically computes variant classifications according to AMP/ASCO/CAP and ACMG/AMP guidelines with full transparency. Users get access to over 200,000 pre-formulated, oncologist-reviewed variant interpretation summaries and can build customizable, oncologist-ready reports with the latest diagnostic and prognostic information, as well as biomarker-directed therapies and clinical trials. In this webinar, attendees will learn: How QCI Interpret One computes variant classifications How simple it is to submit variants for professional interpretation via the software How QCI Interpret One eliminates the need for variant curation How users can generate customizable, oncologist-ready reports according to AMP/ASCO/CAP guidelines for therapeutic, prognostic, and diagnostic actionability

Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in size and complexity. QIAGEN Clinical Insight (QCI) Interpret One is clinical decision support software integrated with professional variant interpretation services that enables rapid, evidence-based reporting of oncology NGS tests at scale. Connected to the world’s most comprehensive, manually curated knowledge base that is updated weekly, QCI Interpret One dynamically computes variant classifications according to AMP/ASCO/CAP and EMA/ESMO/ELN/WHO guidelines with full transparency. Users get access to over 200,000 pre-formulated, oncologist-reviewed variant interpretation summaries and can build customizable, oncologist-ready reports with the latest diagnostic and prognostic information, as well as biomarker-directed therapies and clinical trials. In this webinar, attendees will learn: How QCI Interpret One computes variant classifications How simple it is to submit variants for professional interpretation via the software How QCI Interpret One eliminates the need for variant curation How users can generate customizable, oncologist-ready reports according to AMP/ASCO/CAP and EMA/ESMO/ELN/WHO guidelines for therapeutic, prognostic, and diagnostic actionability

Is your clinical NGS lab evidence-powered? A step every genetic and molecular testing lab should be doing with sequencing data Clinical NGS laboratories are currently facing multiple challenges: expanding test catalogs, vast literature, shrinking budgets, and increasing pressure to deliver test results faster, with greater detail, and pinpoint accuracy. The good news? The demands that face today’s clinical NGS labs have a solution: evidence-powered clinical decision support. In this free webinar, we will introduce a genomic variant analysis, interpretation and reporting solution that is being used by major labs and population-based screening health programs around the world, including LabCorp and Genomics England. QCI Interpret is clinical decision support software that accelerates variant interpretation and reporting by automating curation workflows, dynamically computing variant classifications according to professional guidelines, and generating customized, patient-specific reports. In the latest release of QCI Interpret, the software solution contains new interactive filtering features that enable users to rapidly identify rare variants, variants of high confidence, and variants predicted to be deleterious. It also contains a unique filter that leverages the QIAGEN Knowledge Base, the most comprehensive collection of biological and clinical findings in the industry, to quickly zero-in on variants with known or inferred relationships with observed phenotypes and specific biological characteristics. In the final segment, this webinar will introduce QCI Interpret Translational, the newest member of the QCI portfolio that provides rapid, evidence-powered variant annotation, filtering and triage for the translational research community.

As NGS panels increase in size and complexity, many clinical labs are asking, “How do we scale up without requiring more staff?” QIAGEN Clinical Insight (QCI) Interpret One is clinical decision support software integrated with professional variant interpretation services that enables rapid, evidence-based reporting of oncology NGS tests at scale. Connected to the world’s most comprehensive, manually curated knowledge base that is updated weekly, QCI Interpret One dynamically computes variant classifications according to AMP/ASCO/CAP and ACMG/AMP guidelines with full transparency. Users get access to over 200,000 pre-formulated, oncologist-reviewed variant interpretation summaries and can build customizable, oncologist-ready reports with the latest diagnostic and prognostic information, as well as biomarker-directed therapies and clinical trials. In this webinar, attendees will learn: How QCI Interpret One computes variant classifications How simple it is to submit variants for professional interpretation via the software How QCI Interpret One eliminates the need for variant curation How users can generate customizable, oncologist-ready reports according to EMA/ESMO/ELN/WHO guidelines for therapeutic, prognostic, and diagnostic actionabilityInterested in learning more?Click hereSpeakers:Beate Litzenburger, PhD, Global Product Director of Oncology for Clinical Decision Support Software and Interpretation Services at QIAGENSheryl Krevsky Elkin, PhD, Chief Scientific Officer at N-of-One, a QIAGEN company

See the exclusive preview of the new QIAGEN Clinical Insight Interpret Translational (QCI-Interpret Translational) software from QIAGEN Digital Insights. This new solution replaces the wildly popular Ingenuity Variant Analysis or IVA. In this video you will:Learn why IVA is being transitioned to QCI-Interpret TranslationalReceive a tour of QCI-Interpret TranslationalExplore the functionality and new capabilities of QCI-Interpret TranslationalFind out when QCI-Interpret Translational will be released and made available

Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in complexity and size. QIAGEN created QCI Interpret One by combining the flexible and automatable QCI software, powered by superior structured content in the QIAGEN Clinical Knowledge Base, with the trusted services of N-of-One, a world-leading provider of somatic variant interpretation. Lab Directors can now confidently interpret variants with variant- and disease-specific, oncologist-reviewed content. They can accelerate turnaround time by generating reports in minutes with automated classification of variant actionability and on-demand access to comprehensive expert variant interpretation without the time consuming step of researching and writing evidence-based summaries. They get access to an “expert second opinion” for variant classification, and they can deliver professional reports directly to physicians to help inform clinical decision making.Interested in learning more?Click here Speakers: Beate Litzenburger, PhD, Global Product Director of Oncology for Clinical Decision Support Software and Interpretation Services at QIAGEN Sheryl Krevsky Elkin, PhD, Chief Scientific Officer at N-of-One, a QIAGEN company

Through a live demonstration, discover the power of HGMD Professional and see why reference labs around the world, such as LabCorp and Genomics England, use HGMD Professional in their clinical test interpretation. When a family has a child with a rare undiagnosed condition or a couple is planning their next chapter, they want assurance that their doctors are considering every peer-reviewed paper and all available evidence in their quest for an answer. The Human Gene Mutation Database (HGMD) Professional is the largest, expert-curated resource for finding disease-causing mutations. Founded and maintained in 1996 by the Institute of Medical Genetics at Cardiff University, the database attempts to collate all known (published) gene lesions responsible for human inherited disease, giving you the confidence that the catalogued mutation is properly reported and relevant. Unlike new machine learning or artificial intelligence platforms that rapidly index millions of journal articles for mutations, HGMD Professional leverages human judgement and expertise—every catalogued mutation has been “touched” by a trained scientist to ensure accuracy, relevance, and context. Therefore, HGMD Professional does not contain erroneous information or include inferred genotypes (based on documented protein alterations) or inferred protein alterations (based on documented genotypes). It is the most trusted starting resource for answering the question, “Does this mutation cause human disease?” In this webinar, you will discover the power of HGMD Professional and see why reference labs around the world, such as LabCorp and Genomics England, use HGMD Professional in their clinical test interpretation. Through a live demonstration, you will learn how to use the online interface and downloadable database, as well as how to use HGMD Professional and ANNOVAR to produce a powerful in-house variant interpretation solution.To learn more about HGMD or speak with one of our rare disease experts, visit our webpage 

As next-generation DNA sequencing technology continues to evolve and become further integrated into routine clinical testing, the need for efficient and accurate clinical interpretation of oncology diagnostic tests becomes even more pressing. Standard sequencing panels are growing, drugs are covering more targets and pathways, and the expansion of the scientific and clinical literature has become exponential, presenting a significant challenge to laboratory directors and clinicians who need to understand the implications of the test results. QIAGEN provides flexible clinical interpretation solutions, presenting up-to-date drug approvals, treatment guidelines, and biological and clinical evidenceIn this webinar, we will focus on how clinical diagnostic labs can accelerate test turnaround times and improve reporting capabilities for somatic sequencing tests in oncology with QCI Precision Insights. A professional clinical interpretation service powered by a world-class team of molecular biologists and oncologists, QCI Precision Insights translates molecular data specific to each patient into state-of-the-art clinical insights and country-specific therapeutic options within minutes. QCI Precision Insights has expanded its service to molecular pathology labs in Europe.Interested in learning more?Click here Speakers: Beate Litzenburger, PhD, Global Product Director of Oncology for Clinical Decision Support Software and Interpretation Services at QIAGEN Sheryl Krevsky Elkin, PhD, Chief Scientific Officer at N-of-One, a QIAGEN companyKeywords: translational, somatic cancer, ngs testing, labs

Speaker: Sheryl Elkin, CSO, N-of-One.a QIAGEN CompanyInterested in learning more?Click here

The integration of next-generation sequencing (NGS) into the diagnostic process for hematologic malignancies has greatly improved the accuracy and speed of confirming or refining the diagnosis and following minimal residual disease. Optimization of gene selection and assay development, together with skilled interpretation, are key factors in the execution of a clinically relevant NGS test for hematologic malignancies.In this webinar, we will describe Quest’s LeukoVantage assay, an NGS test designed specifically for detecting clinically relevant variants in myeloid malignancies, and its partnership with N-of-One, a QIAGEN company, for expert interpretation. LeukoVantage covers the most important genes for myeloid diagnostics, with focused panels that allow rapid turnaround. N-of-One’s team of experienced PhDs provides expert, evidence-based annotation incorporating WHO, NCCN, and ELN guidelines, with clinically relevant information vetted by oncologists. N-of-One reports include diagnostic and prognostic information, therapeutic options, and clinical trials based on the unique combination of genomic alterations detected in each case. These reports are then reviewed, modified, and signed out by Quest pathologists.Interested in learning more?Click herePresentersSheryl Krevsky Elkin, PhD, Chief Scientific Officer, N-of-One, a QIAGEN companyFrederick K. Racke, MD, PhD, Medical Director Hematology/Oncology and Coagulation, Nichols Institute San Juan Capistrano, CA

BRCA1/BRCA2 genes represent the best examples for our current understanding of the molecular genetics of cancer. Studying germline mutations in BRCA1, BRCA2, and other genes are necessary to identify novel markers associated with an increased risk of disease. While NGS testing is state of the art, many labs still struggle to optimize their NGS workflow to detect all pathogenic variants, including those challenging ones in homopolymer regions, small-to-large insertions, and deletions, as well as copy number variants down to exon level. Standardized and reproducible classification/interpretation of detected variants into pathogenic and benign to be able to compare and combine results from different labs or even different scientists presents another challenge.In this Clinical OMICs webinar, we will present data from a pre-optimized sample extraction to variant interpretation workflow using the GeneReaderTM NGS System. Additionally, we will show the performance of the system on challenging variants using reference samples, as well as clinical samples. The findings presented in this webinar demonstrate the high level of accuracy for the GeneReader System, eliminating the need to perform time-consuming workflow optimizations.Interested in learning more?Click hereSpeaker: Julie Deschênes, PhDDirectorGlobal Product Management for Hereditary Cancer, QIAGEN

Discover a simpler and faster approach to implementing clinical NGS testingNext-generation sequencing (NGS) has entered the clinical arena, with a deep and direct impact on patient care. Although it empowers clinical laboratories with unprecedented genomic sequencing capabilities, NGS introduces obvious and obtrusive informatics challenges that can burden the scalability and profitability of clinical laboratories.From setting up new NGS pipelines to assay validation and comprehensive variant curation, QIAGEN Clinical Informatics Services offers end-to-end service offerings and individualized solutions.In this webinar, we will share how clinical labs worldwide have relied on QIAGEN to support their unique growth path into clinical NGS analysis, interpretation and reporting. You will:Explore the clinical products, solutions and services offered by QIAGEN and how each can be tailored to your lab’s applications, workflow standards and scalability goals.Hear how a global diagnostic laboratory developed a custom NGS assay with expert support from services and technical support from QIAGEN Clinical Insight (QCI) Analyze, a platform for secondary NGS analysis.Learn how customers have partnered with QIAGEN Clinical Informatics Services to develop a fully automated, turn-key analytic that delivered an end-to-end clinical reporting solution capable of handling higher test volume throughput.Understand the unique on-demand variant curation and variant scoring services provided by QIAGEN, including QIAGEN Precision Insights powered by N-of-One, now a QIAGEN company.Find out how QIAGEN Clinical Informatics Services serves customers across the entire NGS workflow, developing NGS assays with relevant biomarkers for applications on QIAGEN’s GeneReader NGS platform and other sequencing platformsInterested in learning more?Click here

Despite rapid cost reductions in sequencing technologies and an ever-increasing understanding of genetics, it takes about five years to diagnose a child with a rare disease. The mounting adoption of whole exome sequencing (WES) is helping to bridge this gap, allowing for variations in any gene to be identified, creating more opportunities for discovering a disease-causing mutation. Yet, the prolific method generates massive datasets, placing bottleneck pressure on the downstream variant analysis and interpretation. For WES to effectively increase the diagnostic odysseys of rare, undiagnosed diseases, the supporting variant identification and classification must be equally efficient with uncompromising accuracy.In this webinar, we present a clinical decision support solution for efficiently filtering and assessing the pathogenicity of identified variants from WES data collected from undiagnosed patient cases. QIAGEN Clinical Insight (QCI) Interpret is a secure, cloud-based ISO-certified clinical support platform designed to help labs perform tertiary sequence analysis according to guidelines set by industry experts, such as ACMG, AMP, ASCO, and CAP. Using WES data generated from two test cases, we demonstrate how the QCI Interpret platform performs variant filtering and applies phenotype-driven ranking (PDR) algorithms to highlight the variants most likely to cause the respective disease. The PDR score is based on gene-disease associations found in the QIAGEN Knowledge Base. Then, QCI computes the ACMG classifications and AMP/ASCO/CAP tier-based actionability scores for each of the variants in the filtered list. QCI bases variant classifications on the evidence obtained from multiple sources, including full-text articles and public and private databases, all of which are contained within the QIAGEN Knowledge Base. We show how users can examine all of the evidence considered in the variant classifications before generating a final report.Reducing the number of click-outs and rapidly compiling multiple levels of manually-curated evidence from multiple search engines and databases, QCI Interpret significantly scales NGS variant analysis and interpretation, leading to shorter time to discovery.Interested in learning more?Click hereSpeaker: Jim Hayes, PhDApplication Scientist, Clinical Products

For the past two decades, the paradigm in the field has been “one biomarker, one drug,” leading to the development of many targeted therapies and companion diagnostics. As molecular profiling of various cancer types expands, we imagine the use of multiple biomarkers for a combination therapy, like a targeted therapy and immunotherapy together, or even for a monotherapy. In this roundtable our panelists will discuss assessing the validity of biomarkers to inform drug development and potential combination therapies. Key considerations include predictive testing of biomarkers, analytical methods, drug-diagnostic co-development and potential reimbursement considerations. Dr. Kelly Sullivan, Solutions Manager, N-of-One (a QIAGEN Company) will moderate the discussion with Jeffrey Waldron, Executive Director, Precision Medicine Connective, and Dr. Diana Merino, Science Policy Analyst at Friends of Cancer Research.Interested in learning more? Click here