Have you reserved your in-person or virtual spot at the European Human Genetics Conference (ESHG) held June 11-14, 2022, in Vienna, Austria?
Featured at this year’s conference is a talk given by Dr. Atil Bisgin, head of the Cukurova University Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM) in Turkey, where he will discuss how clinical laboratories can step up their exome workflow and analysis for hereditary cases without the expense. His presentation will take place on Monday, June 13 at 8:30 a.m. (CEST), and can be attended in-person or virtually.
An informative talk on how to reduce exome sequencing costs, improve workflow scalability, and accelerate time to report, Dr. Bisgin’s presentation is a must-attend event by anyone performing large gene panel sequencing for hereditary diseases.
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.
The Precision Medicine World Conference (PMWC), in its 17th installment, will take place in the Santa Clara Convention Center (Silicon Valley) on January 21-24, 2020. The program will traverse innovative technologies, thriving initiatives, and clinical case studies that enable the translation of precision medicine into direct improvements in health care. Conference attendees will have an opportunity to learn first-hand about the latest developments and advancements in precision medicine and cutting-edge new strategies and solutions that are changing how patients are treated.
This year, there's a focus on the use and application of real-world data (RWD) and real-world evidence (RWE) in clinical care and pharmaceutical development. According to the US Food and Drug Administration (FDA), RWD is defined as “data relating to patient health status and/or the delivery of health care routinely collected from a variety of sources.” Such sources can include electronic medical records (EMRs), genomic studies, and even social media and wearable devices. RWE is then derived from the analysis of RWD, “providing clinical evidence about the usage and potential benefits or risks of a medical product.” (1)
With an entire event track dedicated to exploring RWD and RWE, panelists from around the world will discuss how real-world insight is transforming the healthcare industry by helping clinicians and pharmaceutical companies better understand their patients and target populations.
"Leveraging RWE to Drive Decisions" | January 23 at 1:00 PM, Track 4
Chair: Jonathan Sheldon, PhD,
Senior Vice President, QIAGEN Digital Insights Business Area
Panelist: Laura J van't Veer, PhD,
Inventor, MammaPrint; Director of Applied Genomics, UCSF
Panelist: Christopher P Boone, PhD,
Vice President, Global Medicine Epidemiology & Big Data Analysis, Pfize
Can't attend PMWC 2020? Learn more about QIAGEN's Real-World Insights in a recent GEN article entitled, "N-of-One, QIAGEN Take Precision Drug Development to the Next Level."
1. Ji, Mingham, et al. “Key Takeaways from FDA’s Framework for Real-World Evidence for Pharmaceuticals.” Covington Digital Health, Covington and Burling LLP. December 13, 2018. www.covingtondigitalhealth.com/2018/12/key-takeaways-from-fdas-framework-for-real-world-evidence-for-pharmaceuticals/
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Day One kicked-off with numerous informational sessions, including talks on the role of AI in clinical decision-making, the importance of standardization for reimbursement, and the tremendous potential of genomic profiling in disease prevention, diagnosis, and treatment.
Dan Richards, Vice President of Biomedical Informatics at QIAGEN, spoke about the clinician's current challenge of curating all the evidence he or she needs to confidently sign-off on variant reports before they go to the prescribing physician. QIAGEN Clinical Insight (QCI) and N-of-One were featured as solutions providing options for either in-house curation with tailored workflows or on-demand curation services.
On Tuesday morning, the conversation continued with a panel hosted by Sean Scott, Chief Business Officer of Clinical Genomics and Bioinformatics at QIAGEN, that discussed the emergence and application of real-world evidence in the clinical setting, especially in precision diagnostics and clinical trial protocol design.
The panel consisted of Raju K Pillai, MD, Hematopathologist and Molecular Pathologist at City of Hope National Medical Center, James Hadfield, Director and Principal Diagnostic Scientist at AstraZeneca, and Sheryl Krevsky Elkin, Chief Scientific Officer of N-of-One.
Also on Tuesday morning, Mary Napier, Associate Director of NGS Strategy at QIAGEN, gave a timely talk on how diagnostic labs and pharma companies can gain a comprehensive understanding of tumor mutational burden signature by implementing our new QIAseq Tumor Mutational Burden panel.
What does she mean by "comprehensive"?
Find out here!
Thank you to everyone who visited the QIAGEN booth, we truly enjoyed talking to all of you about the industry challenges, and changes you see happening now and in the future.
See you at our next event:
Advances in Genome Biology and Technology (AGBT) 2019 in Marco Island, Florida!
February 27th - March 2nd
Want to know more about our clinical solutions and real-world evidence?
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
Whether you’re using PCR or NGS, targeted panels or whole-genome sequencing, mono- or multiplex testing, we have a solution to empower your workflow. Stop by booth #607 to explore and demo some of our products, including QCI Interpret.
Sip, mingle, and connect while gearing up for an exciting weekend of events, which include three QIAGEN-sponsored Corporate Workshops and two QIAGEN Innovation Stage Spotlights.
In a not-to-be-missed talk, Dr. Fergus Couch of the Mayo Clinic will discuss the current challenges and opportunities of liquid biopsy in oncology research.
Meet us at the Innovation Stage on November 1st.
Learn about QIAGEN Clinical Insight (QCI), a flexible clinical decision support suite that is compatible with any NGS platform, running any assay, targeting any indication, including somatic, hereditary, hematological or childhood cancers. During this talk, Dan Richards, Vice President of Biomedical Informatics at QIAGEN and co-founder of Ingenuity Systems, will present a lung cancer case study to show how QCI allows you to optimize and scale your pipeline for the clinical interpretation of genetic variants—from sequence data to report sign-off—without sacrificing accuracy or utility.
We are days away from one of the largest gatherings of molecular pathologists and diagnostic professionals and we couldn’t be more excited to support your path to precision medicine.
Visit us at booth #607 to demo our solutions or chat with our experts.
Learn more at our AMP 2018 event page.
See you in San Antonio!
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!
QIAGEN’s bioinformatics team had a great time at the annual meeting of the American College of Medical Genetics and Genomics in North Carolina earlier this month. No doubt about it, this is the best conference of the year for variant interpretation! We thoroughly enjoyed attending sessions and talking to our colleagues and peers about a topic that’s important to us all. As we did, several key themes emerged.
Expert involvement. We’ve been immersed in bioinformatics since the ’90s and can say with certainty that there has always been a tension between automating processes and incorporating human judgment and expertise. That debate was on display at ACMG this year, with various speakers demonstrating how they balance automation with expert review. In one session, Harvard’s Heidi Rehm spoke about the disease-specific expert panels that are now reviewing data being fed into ClinVar. Today, that database has more than 9,300 variants that have been reviewed by these panels, but Rehm noted there’s a long way to go since there are hundreds of thousands of variants in ClinVar. Still, she said, this approach is one way ClinVar data is being cleaned up over time.
Need to scale. Without question, variant interpretation pipelines have to become more scalable than they are today. This was widely acknowledged at ACMG, where speakers shared their experiences developing or using a host of different methods for automating some or all of the interpretation process. As the number of variants reported rises, a trend that will grow exponentially in the coming years as more testing shifts to whole-genome sequencing, this problem is only going to become more pronounced.
Importance of the literature. Sure, we all know it’s important to consult the scientific literature for variant interpretation — but speakers at ACMG really underscored the need to consult the broader body of literature, not just the obvious papers. Just as limiting the search for variants to an exome necessarily narrows the possible findings from what could be discovered by searching everything, so too does making assumptions about which knowledge is needed to interpret a variant. There was an obvious push at this year’s meeting to expand interpretation processes as much as possible to incorporate more information for stronger results.
Reinterpretation. Several presentations cited data showing that sequenced exomes or genomes that provided no diagnostic results for a patient’s case could be reexamined as soon as a year later with more useful results. It’s a sign of how quickly our understanding of genes, variants, and diseases is expanding. In her presentation, Columbia’s Wendy Chung supported the idea of subscription services that would continually re-interpret genetic or genomic data to improve the diagnostic yield over time.
These are all topics we spend a lot of brain power on. We believe that variant interpretation must be automated — there’s simply no feasible alternative given the demand we’ll be facing in the coming years — and that the successful approaches will manage to incorporate expert curation and judgment as a key part of the process. For example, our QIAGEN Clinical Insight tool was designed as a clinical decision support tool; it offers the recommended interpretation, but allows users to review every bit of evidence supporting that conclusion and to adjust filters or change assumptions based on their own expertise. The tool is built on our one-of-a-kind QIAGEN Knowledge Base, an expert-curated representation of the scientific literature alongside publicly available databases for the broadest information foundation.
We’d like to thank all of the ACMG attendees who stopped by the QIAGEN booth and shared their work with us. It was a pleasure to meet you all!
A roomful of genomic researchers convened in San Francisco, Calif. for the first day of the sixth annual RNA-Seq Summit. If you couldn’t make it, we’ve included a few highlights to illustrate how RNA-seq is contributing to our understanding of disease biology by unlocking transcriptome information. The roster of speakers from across the country was an incredible testimony to the advances enabled by RNA-seq.
During the event, we heard from a range of speakers, including Ulrich Broeckel, MD, professor of pediatrics, medicine and physiology at the Medical College of Wisconsin, and founder and CEO of RPRD Diagnostics in Milwaukee, Wisc. Dr. Broeckel’s compelling presentation, titled “The Future Role of RNA Expression Analysis in Clinical Diagnostics,” illustrated how he uses Ingenuity Pathway Analysis to ask (and answer) “what’s next?” He uses IPA to model, analyze, and understand complex ‘omics data, enabling him to move the focus from the single “disease causing” gene to entire gene networks. According to Brockel, “The next step in precision medicine is to extend beyond the genome—to combine genomic information with functional assays and NGS expression analysis, such as RNA and miRNA.” Broeckel also proved to be an unflappable presenter: when technical difficulties interrupted his session, he gamely fielded questions and maintained his cool. We congratulate him on his excellent, well-received presentation!
Other speakers included Jin Jen, co-director of Genome Analysis Core at the Mayo Clinic, who started the day with her presentation titled “RNA-Seq as a CLIA Test for Gene Fusion Identification and Beyond.” Other Day One speakers included Bin Tian, professor and director of genome informatics at Rutgers New Jersey Medical School, whose session was titled “RNA Sequencing From the 3’ End: Methods and Implications,” and Satish Pillai, from UCSF’s Department of Lab Medicine, who focused on identifying host determinants of HIV latency using single-cell RNA-seq. The day was interspersed with speed networking, poster sessions, and interactive roundtable sessions, and we finished it out by hosting a reception for all.
We had a wonderful time in San Francisco and thank all who attended.
Now in its sixth year, the Applied RNA-Seq Summit provides translational and clinical researchers with a wonderful opportunity to network and share best practices for conquering analytical and bioinformatics challenges. The event takes place in San Francisco at the Le Méridien hotel from April 24-26.
San Francisco is breathtaking for tourists and locals alike. Gorgeous natural scenery, world-class museums, rich street life across disparate neighborhoods, and countless restaurants that cater to every taste and budget … the City by the Bay will not disappoint!
We’re looking forward to several standout sessions, including the kick-off session, to be delivered by Jin Jen, co-director, Genome Analysis Core at The Mayo Clinic. She’ll be discussing a range of topics, including RNA-Seq as a CLIA test for gene fusion identification and novel discoveries and new applications using RNA-Seq in clinical settings. Jen is a compelling speaker and we expect her session to be well-attended. We’re also eagerly looking forward to hearing how Robert Kuhn—associate director at University of California at Santa Cruz—uses the Genome Browser to optimize RNA-Seq data visualization. We’re also looking forward to the first day’s roundtable sessions, when attendees can share pain points and solutions to common challenges experienced by all of us in this field.
QIAGEN will present or sponsor several sessions (one of which includes a cocktail party):
Day & Time: Tue., April 24 from 9 a.m.-noon
Topic: Exploring Single-Cell Transcriptomes Using Bioinformatics Solutions from QIAGEN
Speakers: Jean-Noel Billaud, QIAGEN senior principal scientist, and Nirav M. Amin, bioinformatics scientist at QIAGEN
Location: Currency Room
Day & Time: Wed., April 25 at 9:40 a.m.
Topic: The future role of RNA expression analysis in clinical diagnostics
Speaker: Dr. Uli Broeckel, MD, Professor of Pediatrics, Medicine and Physiology, Medical College of Wisconsin, & Found and CEO, RPRD Diagnostics, Milwaukee
Location: Main conference room
Day & Time: Wed., April 25 at 5:10 p.m.
Topic: Hosted cocktail reception
Location: TBD
We look forward to seeing old friends and meeting new ones at RNA-Seq Summit. In the meantime, please check our events page for more information on everything we’re doing before, during, and after the event. See you in San Francisco!
