Precision Oncology Resources: Recent webinars

overview

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes uniparental disomies and how CeGaT adjusted its bioinformatics pipeline to detect maternal and paternal isodisomies and heterodisomies, and it provides case studies in which uniparental disomies were identified with the ExomeXtra genetic test.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes trio sequencing and presents cases solved with trio sequencing using ExomeXtra.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes.

This brief webinar excerpt from CeGaT reviews case studies illustrating the utility of the additional content included in the ExomeXtra genetic test.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes.

This brief webinar excerpt from CeGaT describes the ExomeXtra genetic test’s genome-wide copy-number variation backbone that enables exome sequencing and an array CGH analysis in the same test, providing a comprehensive database for informed genetic diagnosis.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes.

This brief webinar excerpt from CeGaT describes the ExomeXtra genetic test’s genome-wide copy-number variation backbone that enables exome sequencing and an array CGH analysis in the same test, providing a comprehensive database for informed genetic diagnosis.

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.

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.  

_M-EMEA-01573

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

The cost of drug development is extremely high, with estimates averaging between $1.3 billion and $2.8 billion per drug. These expenses include preclinical testing, clinical trials, and regulatory approval. Despite the investment, failure rates are also staggering. Approximately 90 percent of drugs entering clinical trials fail, often due to a lack of efficacy or safety concerns. Phase III trials, which are the most costly, have the highest failure rate at around 50 percent. This high rate of failure significantly increases overall development costs and limits the number of new drugs reaching the market. 

Recent research suggests that the success of clinical trials that use genetic evidence support is 2.6 times greater than those without. This relative success varies among therapy areas and development phases, and improves with increasing confidence in the causal gene, but is largely unaffected by genetic effect size, minor allele frequency, or year of discovery. 

In this panel, study author Matthew Nelson will discuss how researchers can pinpoint molecular mechanisms underlying specific conditions by analyzing genetic variations linked to diseases, leading to the development of targeted drugs with higher success rates. This approach helps reduce the likelihood of failure in clinical trials, as drugs developed with genetic evidence are often more tailored to the biology of the disease. Ultimately, this strategy accelerates drug discovery and improves the precision and efficacy of new therapies.

A unique nationwide pilot implemented across Israel has demonstrated that rapid precision medicine based on genome sequencing can benefit critically ill babies, ensuring advanced and equitable care for neonates. Through this pilot, called “Project Baby Bambi,” rapid trio whole-genome sequencing (rtWGS) yielded fundamental information that influenced clinical decision making and ultimately saved lives. Due to the success of the program, the decision was made to enable rtWGS access for critically ill neonates suspected of having a genetic condition in Israel, and a new pilot was designed for critically ill children in Israeli pediatric ICUs (Bambi4Kids).

Over 15 months, Project Baby Bambi: 

• Completed rapid WGS on 130 trio cases of critically ill neonates of diverse ancestry and clinical conditions with a suspected genetic origin.
• Sequenced and analyzed samples in a single center, the Tel Aviv Sourasky Medical Center (TLVMC) Genomics Center.
• Provided diagnoses for 65 babies, with an additional 14 cases showing a variant of unknown significance (VUS) suspected to be causative.
• Led to a change in the management of 24 babies, among whom immediate precision medicine was offered for six of the diagnosed infants (n=65). An additional two received palliative care and two were transferred to nursing homes.
• Achieved a mean rapid turnaround time of 7 days.
• Diagnosed 22 different rare conditions, including a novel candidate gene.

In this webinar, Daphna Marom, deputy director of The Genetics Institute and Genomic Center, Tel-Aviv Sourasky Medical Center and chief of pediatric and adult genetics service, will present the project’s findings followed by a panel discussion on the project and its impact on the clinical practice with Hagit Baris Feldman, director of the Genetics Institute and Genomic Center at Tel Aviv Sourasky Medical Center, former chair of the Israeli Medical Geneticists Association and associate professor at Tel Aviv University, Amihood Singer, community genetics researcher and the head of the community genetics department at the Israeli Ministry of Health, Smadar Eventov-Friedman, director of the department of neonatology at Hadassah hospital,  Arieh Riskin, head of the neonatology department at the Bnai Zion Medical Center and chairman at The Israel Neonatal Society, and Maria Martinez-Fresno, director of medical affairs, for genetic disease and reproductive health, in Europe at Illumina.

There is a critical need to advance therapies for glioblastoma beyond the typical standard of care. Targeting the glioma microenvironment with immunotherapies is a promising new direction, but it faces similar challenges of tumor recurrence. Previous work from the lab of Johanna Joyce at the University of Lausanne Ludwig Institute for Cancer Research targeting tumor-associated macrophages via CSF1R inhibition was found to dramatically regress established tumors in preclinical trials. However, recurrence under treatment still emerged over time in about 50 percent of preclinical subjects. Interestingly, these recurrences were ubiquitously associated with fibrotic glial scars that had formed during treatment. This same fibrotic response to treatment was also observed following surgical resection, radiotherapy, and in patient samples of recurrent glioblastoma.

In this webinar, Spencer Watson, senior research fellow in the Joyce Lab at the University of Lausanne in Switzerland will detail how he and the lab employed spatial multi-omics to investigate the complex evolving post-treatment glioblastoma landscape. Their approach integrated mass-spec proteomics, Chromium single-cell RNA-seq, high-dimensional digital pathology, and Xenium In Situ single-cell spatial transcriptomics in genetically engineered mouse models treated with immunotherapy.

This panel discussion on using methylation-based ctDNA testing for MRD and response monitoring in clinical trials will feature three experts in drug and biomarker development: Minakshi Guha, associate director of liquid biopsy strategy and precision and translational medicine at Takeda Pharmaceuticals; Jonathan Beer, senior director of diagnostic sciences at Bristol Myers Squibb; and Diana Merino Vega, senior director of cancer biomarker development at AstraZeneca.

The panelists will discuss how MRD and response monitoring using liquid biopsy can accelerate drug development by:

• Enhancing patient enrollment by reducing trial sizes and costs, improving cohort quality and statistical power of clinical studies.
• Providing early therapy response monitoring through serial testing that monitors tumor dynamics more effectively than standard imaging, predicting therapy response about eight weeks earlier.
• Expediting study evaluation with ctDNA levels that also serve as surrogate markers for dose optimization and efficacy endpoint determination. 

Kimberly Banks, vice president of global scientific affairs at Guardant Health, will moderate the discussion and will close with a brief presentation on Guardant Infinity, a methylation-based tissue-free approach to ctDNA detection and quantification for sensitive and more precise MRD detection and response monitoring.

Measurable Residual Disease (MRD) is a crucial biomarker for analyzing and tracking tumor evolution, evaluating treatment effectiveness, and predicting relapse in acute myeloid leukemia (AML). Among the various technologies used to detect MRD, next-generation sequencing (NGS) stands out for its exceptional sensitivity and specificity. Guidelines from the European LeukemiaNet provide recommendations for MRD assessment, including the use of NGS, to ensure consistency and reliability in clinical practice. However, NGS faces challenges, particularly related to its limit of detection (LOD). The intrinsic error rate of NGS can interfere with the clear discrimination of target signals from background noise, making it difficult to detect very low levels of MRD. This limitation necessitates careful standardization of bioinformatics pipelines to ensure accurate results.

In this webinar, Silvia Salmoiraghi, biologist at the Ultra-Specialist Laboratory of Clinical Pathology-Hematology, at ASST Papa Giovanni XXIII Hospital in Bergamo, Italy, will discuss the performance of the Sophia DDM Residual Acute Myeloid (RAM) Solution.

Salmoiraghi will cover:

• The process of evaluating and implementing this new capture-based NGS application.
• The accurate detection of MRD while assessing multiple biomarkers.
• The advantages of adopting an NGS-based application compared to other technologies.