QIAGEN launches QCI Secondary Analysis, a new cloud-based secondary analysis solution for oncology and inherited disease applications that enables high-throughput data analysis with limited resource and infrastructure investment.
Next-generation sequencing (NGS) has rapidly gained popularity as a diagnostic testing approach due to its unparalleled ability to comprehensively analyze genetic information with high throughput and precision. However, small and decentralized labs face significant hurdles when it comes to adopting NGS testing. From high upfront costs associated with acquiring the necessary equipment, to the complexity of bioinformatics tools and compliance management that require specialized expertise in data analysis and data security, adopting NGS poses challenges for labs with limited staff and infrastructure.
To empower small and decentralized labs to easily adopt NGS testing, QIAGEN has launched a new secondary analysis solution for oncology and inherited disease applications that enables high-throughput secondary analysis for use with any clinical NGS data. QCI Secondary Analysis is an agnostic, cloud-based software-as-a-service (SaaS) solution that supports all QIAGEN QIAseq panels and seamlessly integrates with QCI Interpret, QIAGEN’s clinical variant interpretation and reporting software, to deliver highly scalable and customizable Sample to Insight workflows for oncology and inherited disease applications.
“Our goal is to empower molecular testing labs, regardless of size, budget, and experience, to leverage the power of comprehensive genomic information to advance precision medicine in every setting. Due to NGS adoption barriers, including complexity and cost, a vast majority of small- to mid-size molecular laboratories rely on limited single-gene tests or choose to outsource sample testing for more comprehensive NGS analysis. However, with the launch of our new NGS secondary analysis software, we are making NGS testing more accessible to decentralized labs.”
Jonathan Sheldon, Senior Vice President of QIAGEN Digital Insights. “
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“QCI Secondary Analysis is particularly valuable for labs looking to start running NGS-based tests because it’s a turnkey solution with easy-to-use features for the everyday lab technician. With the availability of this new solution, QIAGEN has simplified the whole bioinformatics pipeline, providing an integrated workflow that minimizes resource investment and maximizes productivity.”
Can Koşukcu, Senior Bioinformatics Application Scientist of DiagnoSeq, an early-access customer of QCI Secondary Analysis.
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Expanding on the QIAGEN Clinical Insights (QCI) portfolio, QCI Secondary Analysis is designed to streamline analysis from a range of assay types, enabling labs to process more sequencing data without extensive time and resource investment. The turnkey solution is deployed on the QIAGEN Clinical Cloud, a secure cloud environment ensuring the highest degree of isolation and data protection, including compliance with ISO 27001, General Data Protect Regulation (GDPR), and the Health Insurance Portability and Accountability Act (HIPPA) requirements.
While QCI Secondary Analysis is a plug-in-play solution that can support any panel, NGS instrument or software, the true value of this new offering is how it complements QIAGEN’s Sample to Insight portfolio. QCI Secondary Analysis is validated for use for all QIAseq panels, can be used with LightSpeed Clinical, a new software module within QIAGEN CLC Genomics Workbench Premium that enables ultra-fast NGS analysis, and directly integrates with QCI Interpret, QIAGEN’s variant interpretation and reporting platform that has been trusted to analyze and interpret more than 3.5 million NGS patient test cases worldwide.
Learn more about QCI Secondary Analysis here.
Every clinical NGS lab is unique. That’s why QIAGEN offers a comprehensive portfolio of secondary analysis solutions designed to meet the needs of each lab. Take our quiz to find out which secondary analysis solution is right for you based on your lab’s computing resources, personnel expertise, and annual sample volume.
When it comes to NGS variant interpretation, content is king. But when your lab’s genomics software platform relies largely on data-sharing and crowdsourced information, how reliable are your reports?
Commercial genomics software platforms support molecular diagnostic workflows by providing unified interfaces connected to selected knowledge bases. These variant interpretation tools take a list of variants and return aggregated information retrieved from individual knowledge bases. This content is then used to filter and prioritize variants and ultimately derive a diagnosis and/or treatment recommendation. Therefore, a lab’s ability to accurately interpret a variant’s biological and clinical significance lies in the strength of its genomics software platform's knowledge base.
In recent years, crowdsourcing has become increasingly prominent as a means of supplementing the data obtained from more traditional sources, such as academic papers and drug labels. Around the world, initiatives and working groups, such as ClinVar, have developed centralized resources where users can submit variants reported in patient samples and assess their significance. Even commercial software companies, such as Sophia Genetics, have created “global data-sharing networks,” enabling their users to upload and share data with other users in the network.
While crowdsourcing is beneficial when it comes to solving challenging cases, there is one inherent issue: crowdsourced data lacks standardization. Clinical laboratories and medical institutions generate patients’ genetic variants through different sequencing protocols and NGS pipelines. This leads to genetic variants that are not interoperable. As a result, data contained in crowdsourced resources is not as reliable as data contained in a standardized, exert-curated knowledge base.
But there is an inherent dilemma: For many molecular diagnostic labs, purchasing a new variant interpretation platform is not option. The question then becomes, how can molecular diagnostic labs fill in the gaps of their crowdsourced data to ensure their variant interpretation is accurate and timely.
QIAGEN Digital Insights offers two proprietary databases that can supplement your lab’s current variant interpretation platform with trusted, expert-curated content.
HGMD Professional remains the largest, manually curated resource for finding disease-causing mutations. Founded and maintained 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 best possible chance of reaching a diagnosis.
Unlike other competitors who offer little to no data curation or overload users with unhelpful literature and volumes of conflicting data, HGMD Professional combines electronic and human search procedures during data curation in order to provide high-quality information. For more than 30 years, a team of expert curators has consistently screened peer-reviewed biomedical literature in over 250 journals to update HGMD Professional.
A research team at Cardiff University updates HGMD Professional quarterly. As of November 2022, HGMD Professional contains over 377,510 detailed mutation reports and more than 11,500 expert-crafted variant summaries of disease-associated/functional polymorphisms. HGMD Professional adds over 45,000 mutation reports per year.
How can HGMD Professional boost your content?
→ Using the public version of HGMD? Your lab does not have access to over 3 years of expert-curated data contained in HGMD Professional. See what else you’re missing here.
The “somatic version” of HGMD Professional, the Human Somatic Mutation Database (HSMD) is 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, HSMD contains content from over 4.2 million mutations from two sources. Content is curated from over 420,000 real-world clinical oncology cases and the QIAGEN Knowledge Base.
HSMD provides gene-level, alteration-level, and disease-level information, including clinically observed gene and variant frequencies across diseases. Clinically relevant content in HSMD is placed into the perspective of clinical treatments, providing the links between biomarkers and targeted therapies, and is backed up with relevant scientific and clinical evidence. 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. HSMD also provides access to individual summaries of alteration-type specific information written by PhD scientists.
As QIAGEN Clinical Insights, QIAGEN’s clinical decision support platform for variant analysis, interpretation, and reporting, continues to be adopted by a growing number of molecular diagnostic labs around the world (The platform recently surpassed interpreting over 3 million NGS patient cases worldwide), the data contained in HSMD is increasing at a compounding rate. HSMD adds a minimum of 70,000 new clinical oncology cases each year.
How can HSMD boost your content?
→ Learn how a national cancer research center in Serbia is using HSMD to confidently identify meaningful mutations in somatic tumor testing here.
Explore, search, and test HGMD Professional and HSMD for free. To demonstrate the quality, flexibility, and simplicity of HSMD, QIAGEN Digital Insights offers complimentary, 5-day trials of both expert-curated database. Start your free trial today.
→ Request your free trial of HGMD Professional here.
→ Request your free trial of HSMD here.
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 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.
The COVID-19 pandemic marked a turning point across the healthcare landscape. And like many professions, clincal cancer genetics is shifting in unexpected ways.
From changes to delivery models and the genetic testing landscape, to emerging new technologies and greater access, clinical genetics is at an inflection point. The demand for services is growing, patient cases are becoming more complex, and professional burnout is at an all-time high.
There’s a catalyzing culprit to these three challenges. Time. Across the industry, clinical geneticists and genetic counselors report time as the biggest bottleneck in their ability to provide services efficiently.
In a survey of cancer genetic counselors, 92% report not having enough time to properly prepare for new patient meetings.
This statistic gains greater impact when considering these five cause-and-effects:
Demand for clinical cancer genetics is soaring.
According to the U.S. Bureau of Labor Statistics, the field is projected to grow by 27% between 2018 and 2028, compared to just 5% across all professions.
Rapid growth in demand for clinical cancer genetics professionals has led to a workforce shortage.
There is approximately 1 clinical cancer genetics professional per 300,000 individuals in the United States (Pal et a. (2013)).
A workforce shortage places greater caseload pressure on genetic counselors.
According to the National Society of Genetic Counselors (NSGC) Professional Status Survey, 62% of clinical genetic counselors report an increase in patient volume in just two years (Patel et al. (2018)).
Case complexity is increasing.
A survey found that genetic counselors spend an average of 4-6 hours per patient working on case-prep, follow-up, and administrative tasks (Attard et al. (2018)).
Clinical geneticists are overwhelmed.
Up to three-quarters of clinical geneticists are found to be at moderate to high risk for burnout and compassion fatigue (Injeyan et al. 2011; Lee et al. 2015; Udipi et al. 2008).
Clinical geneticists and genetic counselors are experiencing compounded challenges. However, a closer look at a typical clinical cancer genetics workflow illuminates the main problem.
In a 2018 survey, 17 genetic counselors indicate that 64% of their time is spent on patient-related activities (PRA) versus face-to-face patient interaction. This equates to 3 hours of PRA time per patient. And, the most time-consuming part of the PRA was writing letters, which involves summarizing the genetic test results, providing detailed information, and recommending next steps—which all must be cited and supported by evidence.
Similarly, Heald et al. found that the most time-intensive part of a clinical geneticist’s and genetic counselor's workflow is literature review and exploring testing options. And, a recent study by Williams et al. found that clinical cancer genetics professionals spend an average of 420 minutes (7 hours) reviewing all available medical literature before presenting to physicians and their patients.
Clinical cancer geneticists and genetic counselors need a way to shorten the literature review process of their workflow without jeopardizing patient outcomes. They need a workflow that allows them to spend more time interacting with patients and less time behind a computer screen. They need a workflow that supports an increase in billing and reimbursement activities and decreases fatigue and burnout.
While some studies recommend improving efficiency by hiring a clinical genetics assistant—a “solution” that incurs substantial annual resources and costs—there’s an easier way forward.
The Human Somatic Mutation Database (HSMD) is the most time-efficient and cost-effective way cancer genetic counselors can scale caseload volume.
An easy-to-use, somatic database from QIAGEN, HSMD contains extensive genomic content relevant to solid tumors and hematological malignancies. Pulling content from over 419,000 real-world clinical oncology cases and 40+ databases contained in the QIAGEN Knowledge Base, HSMD gives genetic counselors access to over 1.5 million somatic variants characterized in over 1,400 cancer-related genes.
By incorporating HSMD into the workflow, clinical geneticists and genetic counselors 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.
Part of the reason clinical cancer genetics professionals are so willing to overwork is that they are uniformly compassionate people. You care deeply about your patients and want to do your best to help them through difficult times. As a result, these professionals are at high-risk for compassion fatigue.
A study published in Nature found that the primary reason why genetic counselors experience compassion fatigue is because you have to sometimes deliver “bad” news. Bad news could be a life-altering cancer diagnosis or the fact that there is not an available treatment for a specific patient.
When you incorporate HSMD into your workflow, you can be confident that you have considered every article and every therapeutic option that is known for a specific gene or variant. This gives you assurance that you are doing everything in your power to help your patients make informed decisions.
If you are a cancer clinical geneticist or genetic counselor that is experiencing an increase in caseload volume, under mounting pressure to meet with more patients, and feeling the stress of burnout and compassion fatigue, consider adopting HSMD into your workflow. QIAGEN Digital Insights offers free, no-obligation trials of the somatic mutation database. You can see what kind of content HSMD offers, explore the search functionality, and determine if this database can save you time and money.
Explore HSMD's features, content and applications with a free 5-day trial
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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.
The Fall 2021 Release of the Human Gene Mutation Database (HGMD) Professional is now available, expanding the world’s largest collection of human inherited disease mutations to 344,012 entries–that’s 20,351 more than the previous release.
For over 30 years, HGMD Professional has been used worldwide by researchers, clinicians, diagnostic laboratories and genetic counselors as an essential tool for the annotation of next-generation sequencing (NGS) data in routine clinical and translational research. Founded and maintained by the Institute of Medical Genetics at Cardiff University, HGMD Professional provides users with a unique resource containing expert-curated mutations all backed by peer-reviewed publications where there is evidence of clinical impact.
Whether searching for an overview of known mutations associated with a particular disease, interpreting clinical test results, looking for the likely causal mutation in a list of variants, or seeking to integrate mutation content into your custom NGS pipeline or data repository—HGMD is the defacto-standard repository for heritable mutations that can be adapted to a broad range of applications.
detailed mutation reports
new mutation entries in 2020 alone
summary reports listing all known
inherited disease mutations
HGMD is powered by a team of expert curators at Cardiff University. Data are collected weekly by a combination of manual and computerized search procedures. In excess of 250 journals are scanned for articles describing germline mutations causing human genetic disease. The required data are extracted from the original articles and augmented with the necessary supporting data.
The number of disease-associated germline mutations published per year has more than doubled in the past decade (Figure 1). As rare and novel genetic mutations continue to be uncovered, having access to the latest scientific evidence is critical for timely interpretations of next-generation sequencing (NGS) data.
View the complete HGMD Professional statistics here.
Join us for a webinar on October, 21, 2021, as our experts will show you how HGMD Professional simplifies and streamlines variant classification in hereditary workflows.
Read more about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our white paper.
HGMD Professional helps clinical testing labs analyze and annotate next-generation sequencing (NGS) data with current and trusted information. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
To get the most out of your HGMD Professional subscription, visit our Resources webpage for case studies, technical notes, and video tutorials.
We're pleased to announce that our newest clinical NGS variant interpretation and reporting solution is now available in Europe.
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 regional clinical trials, based on the lab's regional labels and guidelines.
For US users, QCI Interpret One generates reports according to FDA/NCCN/WHO guidelines for therapeutic, prognostic, and diagnostic actionability. View Sample Report.
For EMEA users, QCI Interpret One generates reports according to EMA/ESMO/ELN/WHO guidelines for therapeutic, prognostic, and diagnostic actionability. View Sample Report.
Learn more about QCI Interpret One in our upcoming live webinar, Thursday, October 15 at 10 AM EST | 4 PM CET. Our experts will provide an overview of the solution, as well as demonstrate how QCI Interpret One can help clinical laboratories grow caseload volume, accelerate test turnaround time, and deliver oncologist-ready reports without requiring additional staff.
