Rare Disease Day 2023 is February 28. It’s a day to raise awareness for the more than 475 million people living with over 7,000 rare diseases globally (1). In fact, rare diseases affect 10 percent of the world’s population (1). But despite their prevalence, rare diseases present significant challenges across the patient journey.
Diagnosis of rare diseases can often take five to seven years. Symptoms can be confusing; local institutions may not have the experience or infrastructure to make a timely diagnosis; and insufficient knowledge about the disease can hinder investigations. The long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being, and the very identity of people affected by a rare disease and their families.
Delays in diagnosis can lead to inappropriate disease management and disease progression. Patients are often misdiagnosed when symptoms present similar to another disease, and a misdiagnosis can lead to unsuitable interventions. For children with a rare disease, shortening the average five- to seven-year diagnostic journey could be a matter of life or death.
At QIAGEN Digital Insights, we are advancing and accelerating the diagnosis of rare and inherited diseases. For 25 years, we have been building the world’s largest, manually curated knowledge base of genomic data. Combined with our sophisticated bioinformatics solutions and standalone genomic databases, the QIAGEN Knowledge Base ensures clinicians, researchers, and pharmaceutical companies have access to the technology and data needed to make a timely, accurate diagnosis.
In this article, we discuss the challenges of diagnosing rare diseases, the impact of misdiagnoses, and how QIAGEN Digital Insights is helping to end the diagnostic odyssey.
A disease is considered rare when it affects a relatively small number of people. In the United States, rare disease (also known as orphan diseases) are defined as any disease affecting less than 200,000 people (2). Approximately 70 percent of all rare diseases are genetic in origin. And 72 percent of genetic rare disease present at birth or in childhood (2).
Rare diseases are difficult to diagnose. As a result, many patients with rare disease enter into a diagnostic odyssey. A diagnostic odyssey is the journey that a patient with a rare disease undergoes to receive an accurate diagnosis.
As we mentioned previously, diagnostic odysseys can be extremely long, often taking five to seven years. These journeys are frustrating, emotionally draining, and financially burdensome. Patients typically see multiple providers, undergo extensive testing, and receive several misdiagnoses.
At the end of the day, diagnosing rare diseases requires a multidisciplinary approach. The diagnostic odyssey involves healthcare and biotech companies, healthcare providers, researchers, and patient advocacy groups. By increasing awareness and knowledge, improving access to diagnostic tools, and investing in research and development of new treatments, we can shorten time to diagnosis from years to mere hours.
Misdiagnosis or delayed diagnosis of a rare disease can significantly impact the patient’s health, quality of life, and financial stability. Patients may undergo unnecessary treatments, suffer side effects from inappropriate medications, experience worsening conditions, and can lose their life. In addition, the emotional and financial burdens of a misdiagnosis can strain patients and their families.
QIAGEN Digital Insights’ mission is to advance molecular intelligence from bench to bedside. With a superior quality knowledge base powered by augmented molecular intelligence (AMI) and a comprehensive portfolio of bioinformatic software, services, and specialty genomic databases, we empower clinicians, researchers, and pharmaceutical companies to accelerate the integration of genomic data into decision-making.
Our sophisticated bioinformatics tools and unrivalled knowledge enable rapid and reliable diagnosis for patients with rare diseases. We collaborate with and support some of the most prestigious healthcare and research institutions in the world, including multiple national and multi-national consortiums focused on the diagnosis of inherited and rare diseases. To date, our clinical decision support software platform, QIAGEN Clinical Insights (QCI), has been used to interpret more than 3 million patient molecular profiles for hereditary and oncology diseases.
The diagnostic odyssey for patients with rare genetic diseases can be long and heartbreaking. But at QIAGEN Digital Insights, we are working hard to discover their genetic roots and characterize thousands of potential disease-causing variants to help generate diagnoses and new disease-related gene discoveries. Driven by our ability to give life-changing answers to patients, doctors, and researchers, we are ending the diagnostic odyssey of rare diseases one gene at a time.
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.
You’re invited to QIAGEN Digital Insights’ first annual Every Lab Summit, a free-to-attend virtual event exploring how any lab, anywhere, of any size can offer precision oncology NGS testing to advance community cancer care.
It’s a new world of NGS. The challenge is no longer how to rapidly sequence DNA, but how to understand and use this genomic data at an equally accelerated pace to improve patient outcomes.
At the Every Lab Summit, our experts will demonstrate how small to mid-sized clinical diagnostic labs can compete to offer comprehensive genomic profiling services for precision oncology with the same speed, expertise, and confidence of large hospital networks and university centers.
Attendees will receive virtual demonstrations of QIAGEN Clinical Insights software, as well as qualify for free trials and/or complimentary consultations of QIAGEN's clinical decision support software and solutions.
View event agenda here.
Whole-exome sequencing (WES) using next-generation sequencing (NGS) technology is a powerful tool for investigating variants linked to genetic disease. It provides a high-resolution, unbiased view across the entire exome to discover causative variants of inherited disorders. However, the vast amounts of data produced by WES require comprehensive data analysis tools that can efficiently translate the raw sequencing data into meaningful, interpretable results. To address these challenges, QIAGEN Digital Insights offers QCI Interpret Translational.
QCI Interpret Translational is a NGS variant assessment software solution that enables rapid, evidence-powered variant annotation, filtering, and triage for human exome, genome, and large cohort sequencing data.
Leveraging the QIAGEN Knowledge Base, the industry’s largest collection of biological and clinical findings, QCI Interpret Translational improves research efficiency and accuracy by automating manual curation processes, dynamically and transparently assessing variants according to society guidelines with full user-control, and optimizing resource allocation, allowing users to focus on what matters most: transforming genomic data into publishable insights.
Learn more about QCI Interpret Translational here.
Wednesday, March 25, hear from Dr. Anthony M Magliocco, CEO and Founder of Protean BioDiagnostics, as he discusses the application of whole exome sequencing for guiding clinical trial enrollment for patients with cancer.
The remarkable advances in precision medicine are unfortunately not currently available to all patients, especially those being treated in community cancer settings. This growing “gap” is now challenging the health system to provide cost-effective, scalable, innovative solutions for underserved patients. Protean BioDiagnostics was founded to close this gap and accelerate access to precision oncology for all patients, regardless of where they live. To this end, Protean has created an adaptable and innovative framework for rapidly deploying the latest companion diagnostics. Protean’s simplification of universal access to complex diagnostics is poised to change the practice of precision oncology in the community and truly “close the gap.”
In this webinar, you will learn more about
Date: Wednesday, March 25, 2020
Time: 11 am EDT
