GenomeWebinars: Recent

Advances in genomic sequencing have revolutionized the diagnostic pathways for brain tumours, shifting focus to epigenetic signatures for classification. To capitalize on this shift, Matt Loose, professor of computational and developmental biology at the University of Nottingham, and colleagues developed ROBIN (Rapid nanopOre Brain IntraoperatIve classificatioN), a tool that uses PromethION nanopore sequencing technology for rapid and comprehensive molecular profiling of CNS tumours.

ROBIN offers real-time, intraoperative methylation-based tumour classification with next-day comprehensive molecular profiling within a single assay. This approach enhances classification precision and could aid surgeons in tailoring surgical strategies based on rapid genetic insights, thus balancing the risks and benefits of intervention.

Beyond methylation profiling, ROBIN detects single nucleotide variants, copy number variants, structural variants, deletions, and insertions in real time. Its ability to provide a complete integrated profile within 24 hours significantly enhances classification fidelity while reducing delays associated with additional assays.

ROBIN’s integration of real-time analysis, dynamic adaptive sampling, and cutting-edge algorithms represents a transformative advancement in brain tumour classification, that could deliver faster, more precise, and clinically actionable results to improve patient outcomes.

Key Takeaways:

• Real-time nanopore sequencing results enable rapid (intraoperative) methylation classification of tumours.
• ROBIN incorporates several molecular profiling bioinformatics pipelines to streamline CNS tumour classification and molecular profiling in under 24 hours.

The exponential growth of genomic data has created both opportunities and challenges for laboratories striving to scale operations across service lines. To address this data deluge, leveraging bioinformatics as a core strategy has become essential.

This webinar will explore how a leading genomics lab, the Advanced Precision Medicine Laboratory (APML) at the Jackson Laboratory, harnesses a streamlined bioinformatics workflow to enhance data integration and support scalability while maintaining accuracy and efficiency. APML has implemented Illumina Connected Software covering all their data needs from LIMS through analysis and variant interpretation. Melissa Kelly, clinical laboratory director of the Advanced Precision Medicine Laboratory, will explore how an integrated data ecosystem from sample management through interpretation helps her team get the result they can trust faster.

Kevin Moore, vice president of software product management at Illumina, will wrap up the presentation with a quick overview of the upcoming software advancements and how it will enable seamless end-to-end multiomics workflows.

Attendees will learn to:

• Build effective lab infrastructure with practical approaches.
• Align bioinformatics solutions with operational needs.
• Position labs for sustainable growth in an era of increasing data complexity.
• Harness the latest advancements in Illumina software that enable seamless integrated multiomics workflows.

In this webinar, attendees will hear from a panel of experts in the pharmacogenomics (PGx) space. These thought leaders will discuss consensus recommendations for standardization of alleles for pharmacogenomic genotyping assays. Attendees will gain insights into these evidence-based guidelines and the implementation of standardized PGx testing within the laboratory. This panel discussion will provide insights into the trajectory of PGx utilization, including challenges, future considerations, and the potential benefits to healthcare.

Treatment of chronic lymphocytic leukemia (CLL) has been revolutionized by targeted therapies, especially BTK inhibitors (BTKi), which block signaling of the B cell receptor, depriving leukemia cells of survival signals. BTKi have significantly improved the survival of CLL patients and are now a preferred standard therapy for CLL.

This webinar will highlight a study that set out to compare the effect of three different BTK inhibitors: ibrutinib, acalabrutinib, and zanubrutinib. Patient samples were obtained before and at various timepoints after treatment to identify biomarkers that could be informative of the treatment’s effect and potential side effects.

In the study, a new method from Olink, called Olink Reveal, enabled the identification of numerous proteins. The method quantifies more than 1,000 proteins, representing a full range of biological pathways across the proteome, and is enriched with hundreds of proteins involved in inflammation processes. This approach enabled the identification of numerous proteins, including those differing between the studied compounds, and shows promise for other studies seeking to compare the effects of different cancer treatments.

This presentation will share the first data to characterize the effects of the different BTKi on plasma biomarker levels and will be followed by an introduction to Olink Reveal.

Presenters:

C. I. Edvard Smith, Professor, Department of Laboratory Medicine at the Karolinska Institute

Kerhan Woo, Product Manager, Olink Proteomics

This webinar is the first of a series on Genomics for Health.

The 37 trillion cells of the human body have a remarkable array of specialized functions and must cooperate in time and space to construct a functioning human.

In this webinar, Sarah Teichmann, professor of stem cell medicine at the University of Cambridge and co-founder and co-leader of the International Human Cell Atlas Consortium, will discuss how her lab harnesses cutting-edge single-cell and spatial genomics to better understand this cellular diversity — specifically how distinct microenvironments regulate cell identity. The lab’s spatial atlas of the adult human heart includes the first comprehensive map of the conduction system, and it harnessed the unique molecular signature of the very rare pacemaker cells to make predictions about potential drug activities. Moving from the single organ to the systems level, Teichmann’s team revealed the context-specific and context-agnostic features of the vasculature across the body. Finally, the team has taken cell atlases into 3D and 4D with its thymus atlases. Studying thymus development uncovered the rules of T-cell identity, which Teichmann’s team then harnessed in the dish to engineer T cells from thymic organoids. The lab also used advanced spatial and computational methods to map T-cell development to a continuous tissue axis, identifying the key spatial and temporal features of this crucial developmental trajectory.

ABOUT THE SERIES

Genomics for Health Webinar Series: Exploring the Transformative Power of Genomics in the Prediction, Prevention, Diagnosis, and Treatment of Diseases

The “Genomics for Health” webinar series is a unique forum for academic researchers, industry professionals, and healthcare practitioners to come together and explore how genomics is reshaping the future of healthcare. From prediction and prevention to diagnosis and treatment — including drug development — this series highlights genomics’ transformative role in empowering patient-centered care.

Led by Vijay Tiwari, professor and head of research at the Institute of Molecular Medicine at the University of Southern Denmark, and Marc Sultan, principal leader of genetics and genomics at Roche, the three-part webinar series aims to inspire a global audience to harness the potential of genomics for innovation in healthcare. Together, Tiwari and Sultan will offer unique perspectives on how academia and industry can work together to advance genomics in precision medicine, driving meaningful conversations and actionable insights. Each of the three webinars will feature different speakers, who will discuss their current work, offering real-world case studies and identifying key challenges and opportunities for collaboration in the field of genomics.

The rapid pace of innovation in oncology demands continuous learning and adaptation from cancer experts. From identifying new biomarkers to advancements in liquid biopsy technologies and evolving international standards, the challenge of staying informed is more pressing than ever.

In recognition of World Cancer Day, an expert panel will discuss early detection for intervention and monitoring after intervention. This session will explore the latest breakthroughs in cancer research, diagnostic methods, and translational science, providing guidance for enhancing patient outcomes.

Our expert panel will feature Lucia Cavelier, PhD, clinical laboratory geneticist at Karolinska University Hospital and co-director of clinical genomics at SciLifeLab, Holli M. Drendel, PhD, senior director, Molecular Pathology Laboratory and co-director, Parke Cytogenetics Laboratory at the Atrium Health Core Laboratory and Sridurga Mithraprabhu, PhD, senior research fellow at Myeloma Research Group.

Key topics:

• Recent breakthroughs: Methods for identifying early-stage cancer biomarkers.
• Liquid biopsy advances: Challenges and innovations in using blood, saliva, and urine for biomarker detection.
• Emerging tools in early detection: Exploring the role of circulating tumor DNA (ctDNA), exosomes, and microRNA.
• From research to practice: How new discoveries and technologies are shaping diagnostic strategies and patient monitoring.

Attendees will gain:

• Practical tips and expert insights into decoding cancer through the latest technologies.
• An understanding of the translational research shaping early detection and intervention strategies.
• Interactive engagement with leading cancer experts during a dedicated Q&A session.

In the ever-evolving field of genomics, liquid biopsy next-generation sequencing (NGS) is demonstrating utility for a number of applications. While plasma has traditionally been the sample type of choice, recent advancements have unveiled the potential of alternative sample types that can provide deep insights and comprehensive data.

Join us for an insightful webinar where we delve into the world of liquid biopsy NGS beyond plasma. Our expert speakers will explore the use of bile and cerebrospinal fluid (CSF) as viable sample types for liquid biopsy NGS, highlighting their unique advantages and applications.

Learning objectives:

• Understand the advantages and applications for bile and CSF in liquid biopsy NGS testing.
• Evaluate the impact and future potential of alternative sample types for liquid biopsy testing.

Speakers:

Leomar Ballester, MD, PhD, Principal Investigator at MD Anderson Cancer Center

Carmen Berasain, PhD, Principal Investigator at the Clinical Cancer Center, University of Navarra

Bone marrow provides a rich platform for investigating immunologic hubs in the context of relapsed acute myeloid leukemia (AML) hematopoietic stem cell transplant (HSCT). An informative setting to interrogate the basis of effective immune responses and mechanisms of relapse and remission in donor lymphocyte infusion (DLI) following HSCT. However, conventional processing of clinical bone marrow samples involves formalin fixation, paraffin embedding (FFPE), and decalcification, which degrade RNA and limit opportunities for spatial transcriptomic profiling. Singular Genomics’ high-throughput in situ multiomic G4X Spatial Sequencer enables simultaneous profiling of gene transcription, protein expression, and fluorescent H&E in degraded FFPE samples.

In this webinar, Catherine J. Wu, professor of medicine and chief in the Division of Stem Cell Transplantation and Cellular Therapies at the Dana-Farber Cancer Institute, will describe her team’s application of the G4X platform to FFPE samples from clinical bone marrow biopsy specimens from patients with relapsed AML after HSCT who were treated with DLI to elucidate the spatial relationships of immune cellular networks in the marrow microenvironment. Further evaluation of these spatial interactions may lead to novel targets for therapeutically optimizing adoptive cellular immunotherapy.

Conventional molecular methods for identifying hemoglobinopathies and thalassemia often do not simultaneously detect copy number variations and mutations in the α-globin and β-globin genes. These limitations can lengthen turnaround times, raise costs, and sometimes miss critical information. 

In this webinar, Shabnam Tavassoli of the Hemoglobinopathy Reference Laboratory at UCSF Benioff Children's Hospital will present data on using NGS to detect hemoglobinopathies and thalassemia for the Newborn Screening Follow-Up Program in California. Tavassoli and colleagues assessed the NGS kit, Devyser Thalassemia, on samples from 107 newborns. The kit demonstrated high sensitivity and specificity in detecting both deletions and mutations. Notably, it successfully identified all cases of α-thalassemia and β-thalassemia, including compound heterozygous conditions.

The team found that screening for both deletions and mutations simultaneously provides a comprehensive genetic profile for newborns, facilitating early and accurate detection. This dual capability is particularly advantageous in regions with a high prevalence of thalassemia, where traditional methods may miss critical genetic variations.

What You Will Learn:

• How NGS can offer simultaneous detection of deletions and mutations in α- and β-globin genes in one test
• The advantages of comprehensive genetic profiling in newborns for faster and more accurate results
• How the assay enabled the discovery of Xmn1 polymorphisms and additional gene deletions 

In this webinar, Marcela Mazo Canola from UT Health San Antonio will join Heidi Ko and Kyle Strickland from Labcorp Oncology Medical Affairs to discuss patient cases in which biomarker testing contributed to tailored treatment strategies in the setting of metastatic breast cancer.

This session will highlight two clinical cases of metastatic hormone receptor-positive (HR+), HER2-negative breast cancer: one with a PIK3CA H1047R mutation and the other with an AKT1 L52R mutation. The team will discuss pivotal clinical trials that led to targeted therapies for these biomarkers, discuss key side-effect profiles, and share insights on testing workflows to optimize biomarker-guided therapy in HR+ breast cancer.

The landscape of drug discovery is rapidly evolving, driven by the need for more predictive and complex models that closely mimic human tissues. In this webinar, April Kloxin of the University of Delaware will discuss the application of advanced cell culture models developed through Inventia’s Rastrum platform, which enables the creation of complex in vitro tissue structures that replicate the cellular microenvironment. This tool enhances the investigation of disease mechanisms and the testing of therapeutic interventions with greater relevance to human biology.

Kloxin's research focuses on designing dynamic biomaterials that can be modified in real time to probe how specific environmental signals impact cell behavior, offering new insights into tissue repair, regeneration, and disease progression.

Key topics include:

• Overview of dynamic biomaterials and their applications.
• Insights into the role of the Rastrum platform in drug discovery.
• The impact of 3D cell models on understanding disease and regeneration.
• Collaborative approaches for tailored research solutions.

This presentation will highlight the potential of these cell culture models in developing therapies and improving patient outcomes.

Running a high-throughput clinical diagnostic lab presents a unique set of informatics challenges, from processing test results to compliance. In this webinar, Angela Kenyon, director of bioinformatics at LabCorp, will present how LabCorp is addressing these challenges with the help of Sapio Sciences. She will be joined by Mike McCartney, chief commercial officer at Sapio Sciences, who will introduce TRACE and discuss how to pinpoint the sources of delays, errors, and inefficiencies.

TRACE is a comprehensive diagnostic tool designed to identify bottlenecks in lab operations, mitigating issues like misplaced samples, frequent errors, or fragmented data. It uses a series of scored questions to assess critical measures, such as turnaround time, real-time tracking, accuracy of data, compliance, and efficiency. TRACE is designed to help understand where labs stand and what areas need improvement to ensure seamless operations and high-quality outcomes.

As public health officials contemplate the next potential infectious disease pathogen — caused by a hypothetical, unknown 'Disease X' as adopted by the World Health Organization — stakeholders must consider lessons learned from COVID-19 and look to future molecular testing technologies and strategies to ensure that the world is ready. In particular, special attention must be paid to lower-resource areas of the world to ensure that molecular testing is expedient and equitable in the next pandemic.

Please join us to hear four experts discuss these issues and more in a virtual roundtable webinar: Amesh Adalja, Senior Scholar at the Johns Hopkins Center for Health Security, an Adjunct Assistant Professor at the Johns Hopkins Bloomberg School of Public Health, and an Affiliate of the Johns Hopkins Center for Global Health; Emmanuel Agogo, Director, Pandemic Threats Programme at FIND, the global alliance for diagnostics; Claudia Denkinger, Professor of Medicine/Infectious Diseases and Director of the Department of Infectious Diseases and Tropical Medicine at University Hospital Heidelberg; and Jennifer Nuzzo, Director of the Pandemic Center, and Professor of Epidemiology at the Brown University School of Public Health.

Recent data and professional guidelines are driving a need to accelerate access to actionable information to inform the delivery of precision medicine. Clinical laboratories are looking for ways to efficiently streamline their tumor profiling platforms and more effectively deliver local NGS testing.

During this educational webinar Mark Ewalt, associate medical director for laboratory operations for diagnostic molecular pathology at Memorial Sloan Kettering Cancer Center (MSKCC), and Pamela Ward, scientific director at USC Keck Hospital and Norris Comprehensive Cancer Center will discuss:

• The clinical need for a rapid targeted NGS panel as a complement to comprehensive genomic profiling (CGP).

• The clinical implementation of Pillar Biosciences' OncoReveal Nexus 21 Gene panel by USC Keck Hospital, Norris Comprehensive Cancer Center, and MSKCC.

• Validation data and concordance with the MSKCC's MSK-IMPACT panels and how this type of rapid testing can be leveraged by other clinical laboratories as a tool to help sub-select and inform which patients should have follow-on CGP testing.

• Review how Pillar’s OncoReveal Nexus 21 Gene panel can effectively be leveraged by laboratories to streamline the use of single-gene PCR testing.

Integrating protein data with genomic, epigenomic, and transcriptomic data at scale is already leading to new biological discoveries and functional insights across a wide range of disease areas, including immunological disorders, cardiovascular disease, neurological disease, cancer, and metabolic disease. 

Interpreting functional protein pathways provides a deeper understanding of:

• Functional Insights: Reveals how genes are expressed as proteins, driving cellular functions.
• Genotype-Phenotype Links: Bridges the gap between genetic code and observable traits as proteins are more direct determinants of function.
• Disease Mechanisms: Identifies abnormal proteins in diseases, aiding biomarker discovery.
• Drug Discovery: Helps find novel drug targets and improve therapy specificity.
• Dynamic Biology: Captures real-time changes in the proteome, reflecting biological states.
• Personalized Medicine: Guides individualized treatments based on protein profiles.
• Systems Biology: Maps protein interactions to understand complex biological networks.

In this educational webinar, a leading proteomics researcher will discuss applying proteomics via next-generation sequencing (NGS) to drive deeper discovery. He will be joined by Anna Babayan and Andrew Slatter from Illumina, who will discuss the advantages of proteomics and the Illumina Protein Prep NGS-based proteomics workflow.

Attendees will:

• Learn from a leading proteomics lab on the added discovery value of adding NGS-based proteomics to your research.
• Better understand the unique benefits of NGS-based proteomics to complement mass spectrometry for biomarker discovery.
• Hear about Illumina Protein Prep (IPP) workflow for NGS-based proteomics.  

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_{For Research Use Only. Not for use in diagnostic procedures.}