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.
There are few meetings as important to the bioinformatics community as Intelligent Systems for Molecular Biology (ISMB), which is celebrating its 25th year at the upcoming event in Prague to be held July 21-25. Organized by the International Society for Computational Biology, ISMB is known for its wide range of presentations, from big-picture keynotes to its targeted “birds of a feather” discussions and much more. We love attending this conference as a way to connect with other bioinformatics geeks and hash out (bad pun fully intended) best practices for computational biology.
This year’s ISMB will be held in conjunction with the European Conference on Computational Biology. Organizers announced 14 communities of special interest (COSIs) that will be running themes throughout the event; examples include structural bioinformatics, visualization of biological data, and bioinformatics education.
Another COSI focuses on methods for understanding the impacts of genetic variation. In the VARI-COSI workshop taking place all day July 24, experts will offer a number of presentations and discussions on relevant topics. Our own Anika Joecker, Director of Clinical Partnering Bioinformatics, will give a talk entitled “The importance of using a most comprehensive knowledgebase for the identification of pathogenic variants in cancer and inherited diseases.” She’ll speak about HGMD as well as the QIAGEN Knowledge Base, which contains hundreds of thousands of manually curated pathogenic variants associated with oncology and inherited disease. The session will include real-world examples showing how scientists have used QIAGEN Clinical Insight Interpret and Ingenuity Variant Analysis to improve diagnosis and treatment for patients.
If you’re attending ISMB this year, enjoy!
Nearly 250 million people around the world are affected by rare diseases, which are typically genetic in nature. Their rarity means that these diseases are not well understood, and funding to research and cure them is often limited. Genome sequencing has contributed to a far better characterization of rare disease by allowing scientists to home in on causal variants. For researchers who work on rare diseases, time is often the enemy. Solutions that provide fast, easy, and profound insights can significantly improve patient care. Clinical genome and exome sequencing can be integrated more broadly into the routine practice of medicine for the betterment of public health.
We are therefore thrilled to share details here about our collaboration with the Rare Genomics Institute (RG). We’ve provided RG with access to our Hereditary Disease Solution for interpreting whole exome and genome data, so that their scientists can use the tool to better understand rare diseases by identifying potential causal mutations missed by other platforms and methods. This collaboration expands their access to our genomic data interpretation tool. According to RG analyst William Chiu, “Ingenuity has a very intuitive user interface, one can easily zoom in to a short-list of potential mutations of interests in a few clicks.”
Ingenuity Variant Analysis features robust algorithms and the deeply curated QIAGEN Knowledge Base, enabling quick identification of known or novel causal variants in disease genes and discovery of novel variants or genes by leveraging pathway and network analysis.
Our hereditary disease solution performs best in terms of clinical accuracy at the Critical Assessment of Genome Interpretation (CAGI) conference.
For the second year in a row, our hereditary disease solution for exomes, genomes, and large panels performed best in terms of accuracy among all the participants of the CAGI conference and was promoted as such during the meeting.
CAGI offers a chance for the genomics community to objectively assess computational methods that predict phenotypic impacts of genomic variation and to inform future research directions. In the Hopkins clinical panel challenge, participants should use computational methods to predict a patient’s clinical phenotype and the causal variant(s) based solely on analysis of their gene panel variant data. The predictions are evaluated against experimental characterizations by independent assessors, and the CAGI experiment ends every year with a community workshop and publications to disseminate results.
This year at CAGI Sohela Shah, Principal Genome Scientist of Advanced Clinical Testing at QIAGEN Bioinformatics, was one of four presenters to discuss her approach to the challenge. Each participant was provided variant calls for 83 genes from a cohort of 106 patients with a range of clinical presentations and had to align the patients to the correct clinical phenotype. As presented by Sohela, our solution performed best in terms of clinical accuracy.
More information about the hereditary disease solution
Austin, here we come!
We’re getting AMPed up for the upcoming Association for Molecular Pathology 2015 annual meeting! Held at the Austin Convention Center from November 5-7, AMP offers molecular pathologists the chance to catch up on the latest industry and research developments.
This year, AMP’s theme is “Realizing the Dream of Precision Medicine,” and we couldn’t imagine a more timely topic. Precision medicine is becoming a reality, and we’re proud to be forging the tools for this revolution, particularly where cancer is concerned.
Our theme for AMP is “Insights in Oncology,” and we’ll be focusing on both somatic and hereditary cancers during the show. In addition to several key news announcements, we’ve scheduled a number of activities for AMP attendees. We hope you’ll stop by to hear our speakers and check out our demos. Here are some events where you can find us during AMP:
Workshop:
November 4, 4:00-4:50 p.m.
Austin Convention Center, Grand Ballroom E
“Practical Considerations When Using a Clinical Decision Support System for NGS Variant Analysis, Interpretation, and Reporting”
Speakers: Andrea Ferreira-Gonzalez, PhD, Director Molecular Diagnostics Lab, Chair Molecular Diagnostics Division, Virginia Commonwealth University; Jason D. Peterson, M.S., Genomic Informaticist, Clinical Genomics and Advanced Technology (CGAT), Dartmouth-Hitchcock Medical
Dr. Ferreira-Gonzalez and others will discuss practical aspects involved during the evaluation and use of NGS data analysis tools in the clinical laboratory. Learn about their firsthand experiences with QIAGEN® Clinical Insight – a new, scalable clinical decision support platform intended to assist molecular pathologists in interpreting and reporting NGS variants from any targeted gene panel run on any next-gen sequencing instrument.
Evening reception:
November 4, 6:30 -8:30 p.m.
Hilton Austin, Salon A & B, 500 E 4th St, Austin, TX 78701
Networking event with QIAGEN executives
RSVP required: NATradeshows@qiagen.com
In-booth presentations:
November 5, 3:45-4:00 p.m. and November 6, 9:45-10:00 a.m.
Booth #922 and #923 — QIAGEN Bioinformatics
“Enabling Precision Medicine – Through Scalable NGS Assay Interpretation & Reporting in Oncology”
Speaker: Dan Richards, PhD, VP of Biomedical Informatics, QIAGEN
Next-generation sequencing (NGS) based clinical tests are increasingly being adopted in clinical labs, but there are significant challenges in unraveling the complexity of genetic information to offer actionable insights for healthcare professionals. The time spent on assessment of NGS variants continues to be a rate-limiting step to reporting. To address this issue, in May 2015 the American College of Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) developed and published standards for the classification of sequence variants. The computational assessment of NGS variants according to ACMG and AMP guidelines promises to significantly reduce the amount of time from sequence result analysis to reporting. In this presentation, Dr. Dan Richards will discuss our manual curation and data-driven approach to pathogenicity classification using QIAGEN® Clinical Insight, a clinical decision support software tool developed to streamline the variant interpretation and reporting process for clinical laboratories. QIAGEN Clinical Insight leverages the comprehensive QIAGEN Knowledge Base with over 10 million biomedical findings of curated data to compute classifications based on the ACMG-reported criteria and classification system.
Learn more about QIAGEN Clinical Insight
