We are pleased to announce that the latest QIAGEN Clinical Insight (QCI) Interpret software release is now available. Expanding on the software’s current capabilities, the update adds new features and guidelines to enhance the interpretation and reporting of genomic variants.
Immediately determine and filter to genes implicated in hereditary diseases that are most relevant to report with Strong or Definitive Clinical Validity. With this new features, users can quickly review clinical validity statements that summarize the evidence supporting the strength of a gene-disease relationship. Gene-disease relationships include those determined by the ClinGen Gene Curation Working Group and are extended to cover all gene-diseases via computing clinical validity based on the ClinGen classification guidelines using the expert-curated and integrated evidence in the QIAGEN Knowledge Base.
Interactively add and remove symptoms (and diseases) in hereditary workflows at anytime. With this new feature, users can rapidly adjust symptoms if more case information becomes available. The ranking of candidate diseases for variants in the Phenotype Driven Ranking (PDR) view is dynamically updated based on the updated symptoms.
Review curated evidence supporting each candidate disease for a case in the hereditary workflow with the Phenotype Network—a new feature that provides a summary of the gene-disease clinical validity and a visual diagram of the paths via QIAGEN Knowledge Base relationships from symptoms provided for a case to a candidate disease. This enables users to quickly and interactively review relationship-specific supporting evidence, including source citations.
The NICE Guidelines for Oncology are now available for clinical reporting in QCI Interpret and QCI Interpret One. QIAGEN’s expert guideline curation provides the most up-to-date evidence-based guidance from NICE to support treatment selection for patients. NICE guideline recommendations are also used to support the computed AMP/ASCO/CAP variant classification to ensure relevant variants are indicated for review.
For information about the latest release, including the full release notes, please contact your QIAGEN Digital Insights account manager or customer support at ts-bioinformatics@qiagen.com.
We also invite you to watch our on-demand webinar, "Overcoming Challenges of Copy Number Variant (CNV) Interpretation," where our experts provide a virtual demonstration of QCI Interpret, showing how users can quickly evaluate CNVs and compute their pathogenicity using the new ACMG/ClinGen guidelines.
Visit our QCI Interpret webpage to request a complimentary demonstration.
We are pleased to announce a minor update to QIAGEN Clinical Insight (QCI), a clinical informatics platform for streamlined NGS variant analysis, interpretation, and reporting of oncology and inherited disease tests. The update adds new features, functionalities, and improvements, further enhancing QCI's ease-of-use, performance, and responsiveness.
Next-generation sequencing (NGS) has transformed the field of oncology. Early successes in identifying and targeting oncogenic drivers of solid tumors have set the foundation for genomics guided precision medicine; but, for hematological malignancies, the path to precision medicine is a lot more complex.
Within the hematologic oncology space, there is a spectrum of biologically related, but clinically heterogeneous diseases. In part, the differences between patients are driven by the particular combination of genetic mutations each disease acquires during its evolution. To effectively treat and manage myeloid malignancies, hematologist oncologists need highly parallel, highly sensitive assays that (1) enable the simultaneous analysis of multiple genes and (2) are coupled with indication-specific bioinformatic pipelines that provide information on disease classification, prognostication, treatment selection, and monitoring.
In this application note, we discuss the importance of streamlined clinical NGS workflows within the hematologic-oncology space. Learn how to develop a robust, automated, and streamlined NGS analysis pipeline for the interpretation and reporting of genomic alterations associated with hematological malignancies.
Read and download the application note >
At the beginning of 2019, QIAGEN announced the acquisition of N-of-One, Inc., a molecular oncology decision support company that provides case-specific, expert-powered clinical NGS interpretation services and solutions.
We sat down with Sean Scott, QIAGEN’s Chief Business Officer and Vice President of Business Development for Clinical Genomics and Bioinformatics, to discuss QIAGEN’s plans for post-acquisition incorporation and what new value QIAGEN customers can expect.
How does the acquisition of N-of-One fit into QIAGEN’s clinical bioinformatics strategy?
Sean Scott: This acquisition represents a unique opportunity for QIAGEN and N-of-One to combine respective strengths to deliver the industry’s most robust portfolio of molecular oncology decision support solutions from one provider. N-of-One’s technology-enabled, yet human-driven, services and the proprietary MarkerMine™ database are planned to be integrated into QIAGEN Clinical Insight (QCI), our platform for NGS analysis and interpretation. We are opening the door to real-world evidence (RWE) and creating new opportunities for supporting healthcare providers and payers.
What does the acquisition mean from a pharmaceutical company’s perspective?
Sean Scott: The addition of N-of-One’s MarkerMine database and commercial data rights creates an attractive and expandable link into RWE insights. N-of-One’s Genomic Insights and analytics services can be commercialized to pharmaceutical industry partners—in particular to more than 25 companies with which QIAGEN has deep companion diagnostic co-development relationships—to support patient cohort analytics, patient stratification, trial protocol design, assay design and interpretation, trial accrual and market forecasting, patient-to-trial matching and other features.
How does N-of-One differ from other molecular decision support providers?
Sean Scott: N-of-One is one of the best-known brands in molecular oncology decision support. It is well-established with labs, pharma companies, and payers, and N-of-One has been the solution-of-choice for leading diagnostic companies, such as Foundation Medicine. Unlike other providers, N-of-One employs a team of over 30 PhD scientists and oncologists to research and analyze each patient case, and in the process, N-of-One has amassed one of the most comprehensive resources of oncology clinical and scientific evidence in the industry with more than 125,000 anonymized patient samples.
How could real-world evidence and patient data impact clinical development program design?
Sean Scott: Today, all stakeholders in the healthcare spectrum—pharmaceutical developers, payers, regulators, physicians and patients—are putting their money on the collection and analysis of many different types of RWE as a key enabling strategy, to close critical gaps in knowledge, give physicians and patients broader access to therapies, and help payers realize the actual value of those therapies in improving health and reducing costs. While still at an early stage, RWE is becoming increasingly used to complement traditional RCT data to inform important healthcare decisions. This suggests that RWE will have a significant impact on the healthcare industry in the years to come.
Today, at the 60th Annual Meeting of the American Society of Hematology (ASH) in San Diego, California, QIAGEN announced the launch of two novel products to deliver actionable insights on a wide range of blood cancers: a new workflow for the QCI Interpret bioinformatics solution for hematological malignancies, and the new QIAact Myeloid DNA UMI Panel for use in myeloid neoplasm research as a Sample to Insight workflow on QIAGEN's GeneReader NGS System.
Meet and talk with our experts at ASH 18, booth #1557!
Featured Products and Solutions
Stop by booth #1557 at ASH to explore our complete Sample to Insight solution for interrogating 25 genes for variants with known significance to clonal myeloid malignancies.
Coupled with QIAGEN Clinical Insight (QCI) Analyze and Interpret, QIAGEN’s secondary and tertiary NGS analysis platform that provides seamless variant detection, interpretation and reporting based on actionability tiers from the 2017 AMP/ASCO/CAP guidelines, the streamlined solution enables sub-classification and prognostic assessment of hematological malignancies, including leukemia, Non-Hodgkin lymphoma, Hodgkin lymphoma and multiple myeloma.
QCI Interpret for myeloid malignancies offers a specialized workflow that guides prognostication and treatment decisions. With features that incorporate cytogenetic information, World Health Organization (WHO) somatic frequencies, and variant-level prognostic evidence from the QIAGEN Knowledge Base, QCI Interpret helps you assess actionability through multiple levels of information.
Meet and talk with our experts at ASH 18, booth #1557!
Featured Products and Solutions
Check out our Sample to Insight oncohematology solutions here.
See you in San Diego!
Your QIAGEN team
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.
The recent AMP Europe 2018 conference was a wonderful chance to catch up with old friends and establish new relationships—our team provided demos at the booth and we had a wonderful symposium. We also participated in a fun challenge, known as “Innovation Lab: Battle of the Bioinformatics Pipeline.” According to this story by Julia Karow in GenomeWeb, the aim of the exercise was “to provide commercial vendors of NGS analysis and interpretation pipelines with sequencing data from real patient samples, generated by a routine molecular diagnostics laboratory, and to see how similar or different their results would be.”
QIAGEN was one of three vendors who participated, using Biomedical Genomics Workbench data analysis platform and Qiagen Clinical Insight (QCI) Interpret software to identify mutations in tumor sequence data, down to a level of 5 percent. Participants were instructed to name and annotate the variants, state their allele frequencies and interpret them according to a five-tier classification system ranging from “benign” to “clinically significant.”
The session was organized and led by Winand Dinjens, head of molecular diagnostics in the Department of Pathology at Erasmus University Medical Center (Erasmus MC) Rotterdam, whose lab also analyzed the data, to establish a benchmark against which the other outcomes were compared. During the session, all three vendors presented their results and compared them to those of Erasmus MC. Though there was plenty of overlap amongst the three vendors’ results, none were identical. The session concluded with all participants agreeing that context (of a patient’s disease) is important in variant interpretation, and that laboratories must define their own thoughtful criteria to effectively frame a clinical report.
We are honored to have been included in the #AMPEurope2018 challenge, and that Biomedical Genomics Workbench and QCI were part of the process. We are also very proud of our team’s positive results—this is our third such challenge, 1) ECP 2017 and 2) AG MolPath, and we welcome the chance to compete again!
This week is the Advances in Genome Biology & Technology annual conference, taking place this year in Orlando. The QIAGEN Bioinformatics team always looks forward to this event for its commitment to cutting-edge science and meticulous genomic analysis, and we’re pleased to be a sponsor of this great meeting.
As usual, one of the concurrent sessions will focus on computational biology, the topic that resonates most for us. We’re eager to hear from scientists who think as deeply about the analysis and interpretation of DNA and RNA data as we do – and who don’t judge us for geeking out on equations, pathway diagrams and scripts! In other sessions, there will be lots of great results to consider from human genome analyses, cancer studies and microbiome interrogations, all areas that are near and dear to the QIAGEN team.
If you’ll be attending AGBT, we invite you to stop by our table at the morning coffee breaks on Tuesday and Wednesday at 10:20am. Grab a coffee and a free “Explore the RNA Universe” T-shirt, courtesy of QIAGEN! They’ll be the perfect look for rocking out at the space-themed farewell party on Thursday night.
We hope to see you in Orlando!
The dust has settled after a whirlwind annual meeting of the American Society of Human Genetics last month. The QIAGEN team would like to thank the many scientists who stopped by our booth to learn about how our bioinformatics tools can make a difference for their projects. We spent a lot of time exploring scientific posters at the conference and came away really impressed by how much great work is being done with tools such as IPA, QIAGEN Clinical Insight (QCI), Biomedical Genomics Workbench, and more.
Thanks to our video team, we have several short clips of researchers discussing some truly fascinating scientific results. Here’s a quick tour.
Jessa Hospital used IPA to understand response to therapy for patients with Crohn’s disease and inflammatory bowel disease.
An evaluation of QCI that helped his team cut variant interpretation times by 75 percent.
Using CLC Genomics Workbench and QCI to understand variants associated with intellectual disability in children.
The challenges of interpreting variants implicated in rare disease.
Using 37-gene QIAseq panels in a wide-ranging study of pancreatic cancer.
The utility of Biomedical Genomics Workbench for analyzing QIAseq panels.
