With recent announcements of software retirements in the clinical NGS industry, many clinical diagnostic labs are looking for new variant interpretation and reporting platforms to integrate into their current NGS pipelines. With so much competition and seemingly fewer differentiating factors between platforms, it’s hardly surprising when labs are confused and overwhelmed when attempting to choose one software solution over another. Here are five key factors to consider when selecting a new clinical informatics platform.
We understand the challenge of selecting and onboarding a new clinical informatics platform to replace your current software. To aid in your selection process, here are five key factors to consider when choosing a new solution.
When your lab invests in a clinical informatics platform, you want assurance that the commercial provider will support you for the long-term. You need to choose a company and platform that offers experience and stability.
The experience and stability of QCI Interpret and QIAGEN:
Trust and transparency are “buzzword” in the clinical informatics software market. But what do they actually mean?
When it comes to interpreting and reporting clinical NGS tests for patient care, diagnostic labs cannot afford misinterpreting a variant or returning tests week (sometimes days) after they are ordered. You need to return high quality, accurate reports fast. You need clinical NGS variant interpretation and reporting software that you can trust.
Your ability to trust your clinical NGS variant interpretation and reporting software derives from the content that supports the platform. Many commercial platforms provide automatic variant classifications based on clinical practice guidelines (ACMG/AMP, AMP/ASCO/CAP, etc.). However, it’s how these platforms perform these auto-classifications that’s the differentiator.
For example, QCI Interpret, QIAGEN’s clinical informatics platform, provides evidence to trigger all 28 criteria of the ACMG/AMP variant interpretation guidelines. Once a VCF file has been uploaded to the software, within seconds, QCI Interpret returns evidence categorized into one of the 28 defined criteria set forth by the ACMG/AMP guidelines and assigns a calculated strength of the evidence. ACMG classifications automatically include case-level information, such as inheritance models and relevant findings in associated samples, and if additional information or expertise is available, users can incorporate their data, modify criteria, and store changes for all downstream cases. Users can then view each piece of evidence used in the assessment through clickable hyperlinks that show the full article—not the abstract. This approach ensures the software’s automated variant classifications consider all available evidence; but it also gives confidence in the results because it allows users to view the evidence considered. This added layer of transparency gives users full control over final assessments, which is critical in clinical variant interpretation.
This factor coincides with trust and transparency. Curation is a critical component of clinical variant interpretation and reporting. It involves searching through the entire body of medical and scientific knowledge to find the precise information needed to accurately classify and interpret a variant. But with thousands of new articles on human genetic variants being added each week to the over 30 million existing medical articles listed in the National Library of Medicine/MEDLINE/PubMed database, variant curation is a huge bottleneck for clinical diagnostic labs.
To help expedite the process, several commercial informatics providers rely on AI and machine learning to rapidly index the millions of articles to find key pieces of evidence. However, there are significant limitations to pure AI approaches.
Why you can't soley rely on AI:
However, let’s be clear. AI does afford significant efficiencies in variant curation. Therefore, the gold standard approach is to combine AI with manual curation. At QIAGEN Digital Insights, we employ over 100 expert curators (MD and PhD level) who are certified in clinical variant curation. Our curation team uses AI and machine learning to rapidly extract and identify articles. Then, they manually review the AI-extracted content to ensure consistency and accuracy. Using human judgement and expertise, our curation process ensures every catalogued “finding” has been “touched” by a trained scientist. No other commercial provider of clinical informatics platforms can claim this.
View an infographic of our curation process here.
As a clinical diagnostic lab, it’s important to feel supported by your software provider. You need assurance that your provider can support you through onboarding, production, and management. You need a dedicated support team that is responsive and always available to answer questions, trouble shoot problems, and optimize your pipeline.
Each of our QCI Interpret customers receive dedicated localized support from our Field Application Scientist team, who is highly specialized in the field of clinical genetics. You have access to your customer support team at all times and we have the ability to make site visits when needed.
Finally, you need a clinical informatics platform that can be customized to your lab’s unique applications and objectives. QCI Interpret is an agnostic platform that can be paired with any panel or sequencer. Working with your dedicated support team, you can customize your workflows to your panels and reporting needs.
Make the switch to QCI Interpret, the industry's most trusted clinical bioinformatics platform—used to analyze and interpret more than 3.5 million NGS patient test cases worldwide.
We are pleased to announce that the 2023 Release of QCI Interpret, QIAGEN’s decision support software platform for the annotation, classification, and reporting of somatic and germline variants, is now available.
Expanding on the software’s current capabilities, the QCI Interpret 2023 Release extends its market-leading, unrivalled content with further advancements in Artificial Intelligence (AI) to enable clinical exome completeness, enhanced phenotype driven ranking, and improved literature searches.
The latest release of QCI Interpret for Hereditary includes AI enhanced coverage of thousands of rare disease genes. The below graphic illustrates the improved curation process for QCI Interpret, showing how all content is initially extracted using AI and machine learning, the most prevalent disease genes undergo human-certified curation, and all content undergoes rigorous quality control to ensure consistency and accuracy.
QCI Interpret is clinical decision support software that combines the unmatched accuracy and consistency of QIAGEN’s proprietary expert (MD/PhD) curation with the superior efficiency of machine curation (AI-powered curation) to enable high-confidence variant interpretation and reporting. Advanced features enable clinical diagnostic labs to rapidly identify pathogenic variants, improve diagnostic yields, and reduce turnaround times. Panel- and sequencer-agnostic, QCI Interpret can be fully customized to accommodate gene panels, exomes, and genomes.
QCI Interpret for Hereditary
QCI Interpret for Oncology
Part 1: October 12 | Part 2: November 9
A virtual event to help diagnostic labs learn how to safely apply AI to exome and genome sequencing workflows,
REGISTER NOW
In its latest release, QCI Interpret for Hereditary extends its market-leading content with further advancements in Artificial Intelligence (AI) for enhanced capabilities in clinical exome NGS testing. Now, with the addition of AI-derived literature references for rare disease genes, QCI Interpret provides complete exome coverage, on top of the existing unrivalled manually curated content and bibliography.
In this webinar, we will demonstrate how QCI Interpret is expanding its literature coverage enabling easy and efficient variant filtering workflow, based on bibliography and on patient’s phenotype. This new feature provides greater control over bibliography context, allowing users to only look at publications where the causative variant is associated with a specific disease. In addition, the release provides AI-enhanced phenotype-driven ranking. Using this approach that has been trained using thousands of solved cases, QCI Interpret for Hereditary Diseases provides superior overall candidate ranking for causative variants in rare diseases. The new variant-ranking approach is enhanced by taking into account additional variant related variables supported also by AI, as well as the patient’s symptoms, and all of the manually curated literature in the QIAGEN Knowledge Base to give the best possible chance of reaching an accurate diagnosis.
Learning objectives:
Join Dr. Marie-Laure Yaspo, Co-Founder and Chief Scientific Officer of Alacris Theranostics, as she discusses the development, application, and analysis of the Comprehensive Molecular Tumor Analysis (CMTA) test for cancer patients.
Precision oncology approaches have made great strides harnessing individual tumor mutation profiles to guide targeted therapy choices. However, deeper molecular insights are needed to improve personalized treatment decisions. Integrating gene expression analysis in personalized oncology provides an additional level of insight. These analyses include evaluating expressed mutations and drug targets, novel gene fusions, clinically relevant signatures, and the tumor immune microenvironment (TME).
Alacris Theranostics developed the Comprehensive Molecular Tumor Analysis (CMTA), a NGS-based tumor diagnostic test. The test integrates whole exome and transcriptomic sequencing (WES and RNAseq). The test deploys as an end-to-end accredited diagnostic platform from tumor sample uptake (FFPE or frozen) to personalized clinical interpretation reports. CMTA is a tumor-agnostic test that displays a unique molecular view of each sample. CMTA is a useful approach for refractory cancers with complex patterns or tumors of unknown origin.
In this webinar, attendees will:
We are pleased to announce that the Winter 2023 Release of QCI Interpret, QIAGEN’s decision support software platform for the annotation, classification, and reporting of somatic and germline variants, is now available.
Expanding on the software’s current capabilities, the QCI Interpret Winter 2023 Release brings new variant classification and assessment tools, functionality improvements, and even more variant content for prevalent hereditary diseases for faster, more informed variant analysis.
QCI Interpret now offers a new optional Triage Mode inline assessment tool to accelerate variant review workflows. The Triage Mode can be toggled on and off (Figure 1).
For novel unassessed variants, the Assessment, Actionability (somatic workflow only), and the Reportability values match the Computed Classification. Users can then add assessment notes (Figure 2). This new feature is intended to help high volume laboratories quickly assess and triage variants.
QCI Interpret’s literature coverage of genes, involved and associated with disease(s), strongly differentiates QCI Interpret from other decision support software by providing a fully certified and manually curated bibliography of approximately 1,000 genes with continuous expansion.
In the QCI Interpret Winter 2023 Release, the bibliography coverage is enhanced and expanded with a focus on genes that are routinely tested and proposed for carrier screening by the latest ACMG practice resource (Genetics in Medicine (2021) 23:1793–1806; https://doi.org/10.1038/s41436-021-01203-z).
Specifically, the bibliography coverage was fully certified and manually curated for Tier 3 genes with continued curation of Tier 4 genes, to provide a comprehensive and complete carrier screening interpretation workflow based on the latest ACMG recommendations summarized below:
In QCI Interpret, a new ClinVar column displays the assessment (P, LP, VUS, LB, B) and number of ClinVar submitters as pulled from the QIAGEN Knowledge Base. A hyperlink takes the user to the respective ClinVar VCV page (phenotype agnostic) (Figure 3).
Pathogenic (P), Likely Pathogenic (LP), VUS, Likely Benign (LB), and Benign (B) interpretations sent to ClinVar are tallied. The hyperlink takes the user to the NCBI variant specific page for additional detail.
For the complete QCI Interpret Winter 2023 Release Notes, please contact your QIAGEN Digital Insights account representative or email our support team at ts-bioinformatics@qiagen.com.
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.
Over the last 20 years, molecular analysis of cancers has offered clinicians a growing toolbox for understanding and treating cancer. Next-generation sequencing (NGS) of tumors identifies alterations that can predict sensitivity and resistance to targeted therapies as well as ascribe prognostic and diagnostic significance. As sequencing power and research into cancer-causing mutations have grown, the number of genes on panels has increased.
In 2022, typical panels can detect hundreds of thousands of mutations across several hundred cancer-related genes. In some cases, laboratories perform exome analysis to detect mutations across all ~22,000 genes in the genome. As a result, the burden of variant interpretation has also expanded exponentially.
Numerous clinical decision support (CDS) software and knowledgebases have been developed to assist variant scientists and laboratory directors with the task of variant classification. These private and commercially available systems utilize varying degrees of software automation and manually curated literature to provide variant assessment and therapy matching for clinicians. The body of literature that must be accessed to deliver accurate variant interpretation is vast. As a result, there is debate in the field as to the most accurate and efficient approach.
CDS software leveraging artificial intelligence or natural language processing can index enormous volumes of literature but lack precision in correctly representing complex genomic interactions in association with clinical outcomes. In this context, human curation remains the gold standard. A community crowdsourcing approach allows contribution from many different experts and can help to build a larger pool of knowledge in the context of limited resources.
However, significant standardization efforts are required to ensure a consistent level of accuracy and reliability. In contrast to machine curation, human professional expert curation is resource intensive but can provide consistent and accurate interpretation.
QIAGEN Clinical Insight (QCI) Interpret for Oncology is CDS software that enables pathologists to identify biologically and clinically relevant oncology-related variants. The software draws on a large knowledgebase of curated information, coupled with an expert interpretation service. The content core of QCI Interpret, the QIAGEN Knowledge Base is populated through a combined approach utilizing human and machine curation. Known as augmented molecular intelligence (AMI), this approach combines artificial intelligence and human expertise to advance and accelerate confident clinical decision-making.
A key differentiator of QCI Interpret, the application of AMI leverages artificial intelligence and machine
learning to efficiently identify, extract, and align evidence from scientific literature, guidelines, clinical trials, and drug labels in over 40 public and proprietary databases in the QIAGEN Knowledge Base. This evidence is then reviewed by over 200 PhD- and MDlevel scientists to ensure accuracy, consistency, and
relevance. The evidence is then stored in computable units according to well-defined protocols.
QCI Interpret utilizes the structured content of the QIAGEN Knowledge Base to match appropriate variant- and disease-specific content and executes rules to classify variant pathogenicity and actionability based on the ACMG (1) and AMP (2) guidelines. The computed classification and supporting data are available for review in a user interface. And the user has the ability to review all the data and approve or revise the classification.
QCI Interpret also incorporates an additional level of human expert interpretation. Users can submit variants to the expert interpretation service and oncologists review the clinical content.
The expert interpretation available in QCI Interpret utilizes a contrasting analysis approach; the scientists execute a topic-based analysis, searching for and extracting information on each variant and formulating an assessment based on the synthesis of the evidence. Then, the usesr receives report-ready text with references to incorporate into the final report. Users can easily view the expert classification and interpretation alongside the computed classification, and the user can approve or revise the classification for reporting.
Multiple studies compare variant classification across institutions (3-5). However, these studies lack a “gold standard” set of variant interpretations that could stand as a benchmark for evaluation.
In order to assess the utility and accuracy of QCI Interpret, QIAGEN engaged GenQA, an external quality assessment organization. GenQA designed and executed a study published in the Journal of Molecular Pathology that compared the use of QCI Interpret to internal laboratory methods. The study recruited eight independent laboratories to utilize QCI Interpret for variant interpretation. Variant classification results were compared and an expert panel resolved all conflicts. The results suggest QCI Interpret is a reliable CDS tool that can help laboratories streamline and improve interpretation practices.
Learn more about the study, including how QCI Interpret performed against the 8 laboratories, sources of discrepancies, and methods of variant analysis.
November 1-5, 2022 in Phoenix, Arizona
This year at the Association for Molecular Pathology (AMP) 2022 Annual Meeting, QIAGEN will be showcasing our integrated cancer NGS workflow powered by augmented molecular intelligence (AMI) at Booth #906. The combination of artificial intelligence and human expertise, AMI is an approach unique to QIAGEN. AMI uses machines to rapidly index millions of articles. Then, human curators review and certify the accuracy, relevancy, and consistency of the information pulled.
Learn more and schedule a 1:1 demo here.
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.
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 very pleased to announce the latest QCI Interpret software release is now available. Expanding on the software’s current capabilities, the update brings major content and functionality improvements to better support the exon-level interpretation and reporting of copy number variants (CNVs).
Improved handling of CNVs and structural variants (SVs)
QCI Interpret is now able to handle CNVs and SVs more comprehensively than before. The software has been improved to better consume, process, and visualize these variant types at the level of exon and breakpoints. QCI Interpret allows you to better assess the physical structure, functional impact, and clinical relevance of copy number alterations and gene fusions detected in NGS secondary analysis pipelines. By utilizing the Test Product Profile (TPP) capability copy number variants in genes of interest are now more accurately described.
Bibliography support for CNVs
With the addition of breakpoint-level and feature-level matching for CNVs, QCI Interpret now supports confident assessment of bibliography content for CNVs of interest. Users can explore clinically relevant CNV findings from the Human Gene Mutation Database (HGMD) and from expert-curated content from the QIAGEN Knowledge Base. New bibliography features allow users to quickly identify and capture relevant references to determine the significance of the variant of interest and to include in clinical reports.
Additional interpretation support for CNVs
With the new release, users can access more resources to support the interpretation of CNV variants with active links to public databases including GnomAD, DECIPHER, DGV and dbVar.
CNV classification calculator for hereditary workflows
In the hereditary workflow experience exon-level classification of constitutional copy-number variants using our new CNV classification feature. This is based on the technical standards published by ACMG and ClinGen .
Improved support for METex14 and EGFRvIII splice variants
With improved structural variant handling, two prominent exon skipping mutations: METex14 and EGFRvIII, are classified more accurately and reveal relevant treatments and clinical trials. This ultimately drives better reporting with treatment options for exon variants detected from RNA.
Integration with DNAnexus through the QIAGEN QCI Connector
In the DNAnexus ecosystem, QIAGEN has published a tool to help DNAnexus pipeline owners terminate the output of bioinformatics pipelines in QCI Interpret for tertiary interpretation.
Platform performance improvements
With the new release, numerous back-end improvements have been made to QCI Interpret to make these calculation-intensive operations more efficient.
For information about the latest release, please contact customer support at ts-bioinformatics@qiagen.com.
We are excited to announce the general availability of the Fall 2020 Release of QIAGEN Clinical Insight (QCI) Interpret. This new release brings the following new features:
To learn more about the new features and functionalities of QCI Interpret, please attend our free webinar on November 10 at 11 AM EST. Register here.
If you are a current QCI customer and have questions about the new release, please contact support at ts-bioinformatics@qiagen.com.
