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GenomeWebinars

Associate Director, Laboratory for Molecular Pediatric Pathology; Staff Pathologist, Boston Children's Hospital; Instructor of Pathology, Harvard Medical School

This webinar will discuss background and clinical genomics of NTRK fusion detection in cancer. NTRK fusions are the focus of new therapeutic options, but clonal and subclonal lesions are notoriously difficult to detect. This webinar will provide an overview and background about the increased role of these fusions, and latest trends in diagnosis, prognosis, and treatment, as well as a research case study on detection.

Join Dr. Alanna Church of the Laboratory for Molecular Pediatric Pathology and Staff Pathologist at Boston Children's Hospital to learn more about the increasing role of NTRK fusions:

  •  Overview and background of fusion mutations, specifically NTRK 1, 2, and 3
  •  Frequency overview and specificity needed for detection
  •  Overview of research case of utilizing NGS technology in detection.

Global Product Manager, Genomics and Diagnostics Group,
Agilent Technologies

This webinar will focus on measurable residual disease (MRD) monitoring in post allogeneic hematopoietic cell transplantation (alloHCT) myelodysplastic syndrome (MDS) cases. 

Standard sequencing-based technologies have a limited ability to detect low-abundance mutations due to the inherit error rate of the sequencing technology and pre-analytic errors associated with PCR amplification and sequencing library construction. This approach is generally limited to the detection of mutations with variant allele frequencies (VAFs) of greater than 2.5 percent. 

Our speaker, Eric Duncavage, will discuss an approach his team used to address this issue, which used HaloPlex HS error-corrected sequencing coupled with high-coverage depths that allowed them to detect VAFs as low as 0.03%, or one tumor cell in ~1,600 cells. 

Dr. Duncavage’s team applied HaloPlex HS to bone marrows collected prior to and 30 days after transplant in 86 MDS patients by targeting previously identified somatic mutations. They found that 32 of 86 cases (37 percent) had at least one mutation at day 30 post-alloHCT with a maximum mutation VAF greater than 0.5 percent (equivalent to 1 mutant cell in 100 cells).

Dr. Duncavage will detail the study, which found that cases who progressed had a higher maximum mutation VAF 30 days after transplant compared to those who did not. Multivariate analysis confirmed that the detection of a mutation with a VAF greater than 0.5 percent 30 days after alloHCT was associated with an increased risk of progression and decreased progression-free survival. 

For Research Use Only. Not for use in diagnostic procedures.

Recent GenomeWebinars

R&D Manager, ID-Solutions

VP of Commercial Operations, Stilla Technologies

This webinar will outline the entire liquid biopsy workflow from cell-free DNA isolation to mutation detection by Crystal Digital PCR with the Naica System from Stilla Technologies.

Our speakers will focus on detecting EGFR, BRAF, NRAS, and KRAS mutations as well as pediatric and adult cerebral tumor classification panels.

Attendees of this webinar will:

  • Understand the liquid biopsy process for EGFR, BRAF, NRAS, and KRAS mutations;
  • Learn about the benefits of the Crystal Digital PCR platform in combination with research-use-only kits;
  • Hear why digital PCR is a particularly useful technique for the detection of mutations, therapeutic monitoring, and resistance appearance;
  • Learn about the different steps of the liquid biopsy workflow, from DNA isolation to DNA quantification and qualification and DNA genotyping, with dPCR multiplex kits

Senior Specialist Biomedical Scientist, Frontier Pathology

Specialist Biomedical Scientist, Frontier Pathology

Specialist Biomedical Scientist, Frontier Pathology

This webinar will provide a first-hand look at how a hematology/oncology lab in the UK set up and validated three molecular assays for routine in-house use.

Speakers from the Royal Sussex County Hospital (RSCH) laboratory, operated under the Frontier Pathology NHS Partnership, will share their experience implementing two assays for suspected BCR-ABL1-negative myeloproliferative neoplasms.

The RSCH lab has spent the last several years repatriating historical send-away hemato-oncology assays for JAK2 V617F and CALR exon 9. During this webinar, RSCH scientists Munyoro Guvamatanga, Anna Tarasewicz, and Rebecca Lough will share their experiences bringing these assays in-house.

The JAK2 V617F mutation assay was the first to be repatriated in 2015 and is performed using the CE-IVD marked ipsogen JAK2 RGQ PCR kit. More recently, the lab began detecting CALR exon 9 mutations using the CE-IVD marked ipsogen CALR RGQ PCR kit. The assays are performed using gDNA extracted from whole blood samples and subsequent real-time qPCR on the QIAGEN Rotor Gene Q MDx 5Plex HRM platform.

This webinar will describe the experiences and challenges associated with the setup and validation/verification of the assays in the RSCH laboratory.

Associate Professor, Biomedical Engineering, Yale University

Director, New Collaborations, Isoplexis

This webinar discusses cutting-edge single-cell approaches to discover biomarkers that could elucidate the mechanism of a variety of autoimmune disorders as well as autoimmune and inflammatory reactions to immunotherapies.  

Many therapeutics seek to address a large growing need in autoimmune and central nervous system diseases. Additionally, despite their success in addressing major challenges in refractory blood cancers, current immunotherapeutic strategies are still hampered by autoimmune-like reactions and neurotoxicity-related events. Inflammatory responses from T-cells, monocytes, and other immune cells can have detrimental effects on patients in each of these areas, but it is challenging to understand the functional profile of these immune cells, and thus how to use this type of information to predict progression of autoimmune-like responses.

Our speaker, Dr. Rong Fan of Yale University, discusses IsoPlexis’ advanced immune-based approaches in systemic lupus erythematosus and adverse events like cytokine release syndrome and neurotoxicity in cell therapy. He describes the uses of single-cell functional proteomics in determining correlates and drivers of these adverse reactions, and how these biomarkers may be used in the future to improve therapeutic development and intervention.

In addition, Jon Chen of IsoPlexis shares a case study showing that monocyte polyfunction in multiple sclerosis tracks differential responses to treatments for early diagnosis and early intervention.

This webinar will be pre-recorded. You may submit questions in advance via the registration page.

Medical Oncologist, Johns Hopkins Kimmel Cancer Center

Director of the Institute of Laboratory Medicine, German Heart Center of the Technical University

This webinar presents recent evidence that demonstrates how incorporating circulating tumor DNA (ctDNA) assessments into real-world patient management can influence patient care decisions, alter radiographic interpretations, and impact clinical outcomes.

In particular, this webinar discusses OncoBEAM a ctDNA testing method based on BEAMing (Beads, Emulsion, Amplification, Magnetics) technology developed at the Johns Hopkins University School of Medicine. OncoBEAM provides highly sensitive mutation analysis for the accurate and reliable detection of rare tumor-derived DNA present in the blood of patients with cancer.

In this webinar, Dr. Evan Lipson of Johns Hopkins shares his experience on the clinical utility of ctDNA measurements as an adjunct to radiographic imaging for monitoring disease activity in advanced melanoma patients undergoing treatment with targeted therapy or immune checkpoint inhibitors. These results have important implications for the clinical management of patients receiving immunotherapy and demonstrate the value of performing ctDNA testing for better resolution of tumor activity when performed alongside routine imaging and clinical assessments.

Next, Dr. Stefan Holdenrieder of the Technical University of Munich examines the value of KRAS-mutant ctDNA as a highly specific marker for early response prediction and treatment monitoring of advanced pancreatic cancer patients receiving chemotherapy. The discussion focuses on the potential clinical benefit of monitoring changes in ctDNA levels in response to therapy, which appear more pronounced and rapid than changes in established protein biomarkers.

Clinical Director, Molecular Tumor Board & Medical Director, Gastrointestinal Cancers, Inova Medical Group

Professor of Pediatrics and Professor of Clinical Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine

Chief Scientific Officer, N-of-One, a Qiagen Company

In 2016, the Association for Molecular Pathology (AMP), in partnership with the College of American Pathologists (CAP) and American College of Molecular Genetics (ACMG), launched a set of guidelines meant to set industry standards for reporting of molecular diagnostic test results in oncology, using a tier-based system and defined levels of evidence. Upon the release of these guidelines, several laboratories and molecular diagnostic decision-support companies incorporated them into their reporting to give pathologists and treating oncologists a more consistent report format that clearly conveys the level of importance and evidence for each variant, enabling them to provide the most relevant treatment options for oncology patients.

In this webinar, Dr. Timothy Cannon, Medical Director for Gastrointestinal Cancers at Inova Medical Group, Dr. Marilyn Li, Vice Chief of the Division of Genomic Diagnostics at Children’s Hospital of Philadelphia, and Dr. Sheryl Elkin, CSO of N-of-One, a Qiagen company, discuss adoption of the guidelines in the field to date, what’s working, and any new challenges/opportunities that have come from the initial launch.

Attendees can expect to learn about some of the complexities that exist in incorporating the AMP guidelines into treatment strategies, as well as what might be on the horizon in industry standardization for levels of evidence.  

Associate Professor, Department of Leukemia, MD Anderson Cancer Center

Director, New Collaborations, Isoplexis

This webinar provides an overview of current biomarker strategies for guiding the use of combination checkpoint immunotherapies in blood cancers.

Checkpoint immunotherapy has proven to be a powerful therapeutic against a variety of cancers, yet due to response rates that range between 20 percent and 40 percent, researchers and drug developers continue to seek ways to indicate response or non-response as early as possible. A particular area of focus is biomarkers that can assess the status of the pre-therapy tumor microenvironment in order to predict response.

Our speaker, Naval Daver of MD Anderson Cancer Center, discusses advanced immune-based approaches in acute myeloid leukemia that combine chemotherapy with checkpoint therapy, along with the relevant biomarker strategies associated with each.

Dr. Daver also describes a study based on a single-cell cytokine analysis system and Polyfunctional Strength Index (PSI) from Isoplexis that demonstrated that certain cytokine potency contributors, in particular from stimulatory cytokines, correlate with overall survival.

In addition, Jon Chen of Isoplexis shares several case studies using tumor-infiltrating lymphocytes in combination checkpoint immunotherapy that correlate polyfunction to outcome.

*Due to the location of our speakers, this webinar is pre-recorded.

Director, Penn State Institute for Personalized Medicine

Director of Customer Solutions and Applications, Bionano Genomics

This webinar reviews a recent study that applied whole-genome sequencing and optical genome mapping to identify a large number of previously undetected somatic structural variants in leukemia samples. 

Genomic analysis has driven major advances in leukemia, where the spectrum of driver mutations provides a much more rigorous classification of disease subtypes, with a correspondingly more robust prognostic power, than previous histological characterization.

In this webinar, Dr. James Broach, Director of the Penn State Institute for Personalized Medicine, discusses a study that indicates there are far more structural variants in leukemia than previously thought.

Dr. Broach and his team combined whole-genome sequencing and optical genome mapping to a number of adult and pediatric leukemia samples. The method identified 97 percent of the structural variants previously reported by karyotype analysis of these samples, as well as an additional fivefold more such somatic rearrangements. 

The method identified on average tens of previously unrecognizable inversions and duplications and hundreds of previously unrecognizable insertions and deletions. These structural variants affected a number of leukemia-associated genes as well as cancer driver genes not previously associated with leukemia and genes not previously associated with cancer. Analysis indicates that the status of several of the recurrently mutated genes identified in this study significantly affect survival of AML patients.

Dr. Broach discusses the implications of the findings, which suggest that current genomic analysis methods fail to identify a majority of structural variants in leukemia samples — an omission that may hamper diagnostic and prognostic efforts.