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GenomeWebinars: Recent

Dec
07
2022

Sponsored by Thermo Fisher Scientific

Chromosomal Microarray Analysis of Cell-Free DNA in Maternal Blood and the Impact of IVDR

Chromosomal microarray analysis (CMA) is a well known first-tier molecular cytogenetics test helping to identify potential genetic causes of developmental delay, autistic spectrum disorders, or intellectual disability. In this webinar, Miguel Milan, director of prenatal genetic diagnosis at the Igenomix medical testing lab in Spain, will discuss how his lab is using chromosomal microarrays to detect free circulating DNA in maternal blood for the evaluation of aneuploidies. Milan will discuss why it was important for the lab to have a high-resolution platform that was futureproofed against new regulations.

Additionally, Anna Sadio, EMEA regulatory affairs senior manager at Thermo Fisher Scientific will highlight the key points and timelines in the new European IVDR (EU IVDR  2017/746) regulations. In this webinar, attendees will discover potential routes to compliance and sources of information to ease potential pitfalls.

Attendees will learn:

  • How a major testing laboratory specializing in reproductive genetic services uses chromosomal microarrays.
  • How important regulations concerning genetic testing were influential in the lab’s choice of platform.
  • The impact the IVDR regulations will have in Europe.
  • Ways to ease the path to compliance.

Sponsored by

Dec
06
2022

Sponsored by SPT Labtech

Increasing NGS Experimental Power Without Increasing Costs

The high cost of library production for Illumina NGS is a critical factor in the design of underpowered experiments. Stuart Levine, director of the BioMicro Center at MIT, has developed methodologies using the SPT Mosquito to lower library preparation costs without sacrificing data quality. Performance data from a range of methods typically demonstrate a 5- to 6-fold reduction in end-user costs as compared to preparation by hand.

Webinar topics:

  • Reducing the cost of NGS library prep compared to traditional automation.
  • Improving sequencing rates through automation.
  • Scaling your NGS workflows successfully.

Sponsored by

SPT Labtech
Dec
06
2022

Sponsored by GenomOncology

Streamlining Precision Oncology Processes at the University of Nebraska Medical Center

The University of Nebraska Medical Center/Nebraska Medicine’s (UNMC/NM) Fred & Pamela Buffett Cancer Center (FPBCC) offers a novel precision oncology program that is dedicated to improving patients’ overall cancer care. Through the use of genomics and diagnostic tools, the UNMC/NM-FPBCC employs precision oncology to customize care for each cancer patient in order to enhance diagnostic opportunities and outcomes.

To strengthen the data enablement, decision support, and analytics processes within their precision oncology program, UNMC/NM has partnered, since 2015, with GenomOncology. GenomOncology’s precision oncology solutions are designed to be flexible and customizable to augment institutional workflows and processes. By integrating GenomOncology’s solutions into their workflows, UNMC/NM-FPBCC has been able to streamline the utilization and interpretation of complex precision oncology information within their precision oncology program.

During this 1-hour webinar, Allison Cushman-Vokoun of UNMC/NM and James Cole of GenomOncology will cover:

  • The challenges UNMC/NM-FPBCC faced with streamlining the precision oncology processes within their institution.
  • How UNMC/NM-FPBCC implemented GenomOncology’s precision oncology solutions to improve data enablement, decision support, and insights and analytics workflows within their precision oncology program.
  • The results and impacts of the implementation of GenomOncology’s solutions within UNMC/NM-FPBCC precision oncology program.

Sponsored by

Dec
05
2022

Sponsored by Igentify

The Anatomy of a Great Carrier Screening Program: Experts Share Best Practices

Alongside the genomic revolution, the landscape of carrier screening has evolved. This webinar will discuss the anatomy of a great carrier screening program, including new developments, practices, technologies, and tools that are making carrier screening more cost-efficient, inclusive, and comprehensive.

Topics that will be covered include:

  • Overview of carrier screening, practice guidelines, and smaller vs. larger panels
  • Best practices and approaches for today’s carrier screening scenarios
  • Disease identification and ramifications, special considerations
  • Risks after a negative carrier screening result
  • Coding and reimbursement scenarios
  • Making genetic testing more accessible
  • Hardware and software technologies that improve the carrier screening process (for labs, providers, and patients)

Sponsored by

Igentify Logo
Nov
30
2022

Sponsored by SomaLogic

Assessment of Variability and Normalization Methods Using the Plasma 7k SomaScan Assay v4.1

In this webinar, Julián Candia and Keenan Walker of the National Institute on Aging will present the largest technical assessment to date of the 7k SomaScan v4.1, an assay capable of measuring 7,288 human proteins. The study was performed on 2,050 samples across 22 plates and included inter-plate technical duplicates from 102 human subjects, allowing the team to characterize different normalization procedures, evaluate assay variability by multiple analytical approaches, present signal-over-background metrics, and discuss potential specificity issues. By providing detailed performance assessments on this wide range of technical aspects, Candia and Walker aim for this work to serve as a valuable resource for the growing community of SomaScan users.

Topics covered include:

  • A comparative analysis of different normalization strategies.
  • An analysis of performance across 7,288 SOMAmers targeting human proteins.
  • A discussion of the sensitivity and specificity of the assay.

Sponsored by

Nov
30
2022

Sponsored by Roche

Comparison Study: The Impact of Variant Interpretation Tools on Cancer Care

Next-generation sequencing (NGS) can be leveraged clinically to inform an oncology patient’s care team on diagnosis, appropriate therapy, and prognosis. Between curation and annotation, the evaluation of NGS results from sequencing hundreds of genes can take hours to interpret. Compounding this challenge are the differing disease ontologies and genetic nomenclature when searching across databases. To combat the manual labor necessary to address these challenges, a number of secondary and tertiary variant evaluation and curation tools have been developed. These tools provide data on patients’ genetic information (SNPs, insertions, deletions, copy number variants), genomic biomarkers (microsatellite instability and tumor mutational burden), and even appropriate clinical trials. 

In this webinar, Roy Khalife, a bioinformatician from Protean BioDiagnostics, presents results from a head-to-head comparison of variant interpretation and annotation software. The goal of this study was to identify and characterize the similarities and differences in tiering and trial eligibility across software platforms.

Somatic variants from 25 pan-cancer cases were evaluated using three independent software programs: a commercial software tool, Roche’s Navify Mutational Profiler (NMP), and a publicly available tool. Roy will discuss how the team compared the disease ontologies, variant prioritization (tiering), and the clinical trials across the software program outputs.

What viewers will learn:

  • The role of secondary and tertiary software in NGS workflows
  • How similarities and differences in somatic tumor tier classification systems can impact variant annotation and clinical decision making
  • How NGS can be used to match cancer patients to oncology therapies and clinical trials

Sponsored by

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Nov
29
2022

Sponsored by Personal Genome Diagnostics

Impact of Genomic Profiling on Risk Stratification and Treatment Selection in Acute Myeloid Leukemia

This webinar is part four of a four part molecular tumor board series.

In this session, our expert panelists will review patient cases in which genomic profiling has identified alterations that make patients eligible for targeted therapies for acute myeloid leukemia (AML). 

For more than 40 years, the standard of care for AML was cytotoxic chemotherapy. However, since 2017, 10 new AML treatments have been approved by the FDA, promising to rapidly change the standard of care for AML. This shift has been due in large part to genomic profiling and the identification of oncogenic drivers for AML. 

FDA-approved therapies targeting common oncogenic drivers of AML are now available, including FLT3 and IDH1 in the newly diagnosed and relapsed/refractory settings and IDH2 therapies for relapsed/refractory disease. 

Targeted therapies in AML present unique challenges for oncologists related to the timing of molecular testing. For newly diagnosed patients, the window from diagnosis to treatment initiation is small, typically less than 7 days. This makes molecular workflows challenging to identify both mutations with front-line treatment implications and all mutations that may impact prognosis.   

Our panel will address these challenges within the context of specific clinical cases. The session will wrap up with a live Q&A in which attendees can discuss the cases with the Virtual Molecular Tumor Board panelists.

Sponsored by

Personal Genome Diagnostics
Nov
28
2022

Sponsored by BGI

Point-of-Care and Metagenomic Infectious Disease Testing at Hospitals in Shanghai and Beijing

Infectious diseases remain one of the most significant overall causes of morbidity and mortality. Proper and accurate diagnosis of a pathogen is critical for patient treatment. A delayed or incorrect diagnosis can lead to a multitude of adverse events, including unnecessary use or misuse of antibiotics, increased healthcare costs, and worsened patient outcomes.

In this webinar, Gang Liu, chief of the Infectious Diseases Department at Beijing’s Children’s Hospital, and Jingwen Ai, attending physician at Huashan Hospital, will discuss advances in point-of-care diagnostics, sequencing diagnostics, and multi-omics studies that are encouraging for precision medicine in infectious diseases.

Dr. Liu will discuss the application of clinical metagenomic sequencing for the diagnosis of severe infectious diseases, while Dr. Ai will speak about the importance of a tertiary diagnostic network and the setup of a step-wise pathogen identification protocol.

Sponsored by

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Nov
16
2022

Sponsored by Akoya Biosciences

Developing Spatial Signatures as Biomarkers for Predicting Response to Immunotherapy

The emergence of new immunotherapies as the first line of treatment for cancer necessitates the development of clinically useful biomarkers to identify patients who will benefit. In this webinar, immunohistochemist Patrick Savickas and Akoya Biosciences senior application scientist Ning Ma will discuss spatial signatures — biomarkers based on spatial relationships and protein co-expression on specific cellular subsets that are assessed within the context of the tumor immune microenvironment, which have demonstrated higher accuracy in predicting response to immunotherapies. Savickas will discuss his experience with Akoya’s new multiplex panels based on novel protein chemistry that can accelerate the development of spatial signatures, simplifying the pathway to improved stratification to immunotherapy response.

Sponsored by

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Nov
15
2022

Sponsored by Personal Genome Diagnostics

Impact of Structural Variants and Co-Occurring Variants on Cancer Therapy Prioritization

This webinar is part three of a four part molecular tumor board series.

In this session, our expert panelists will review patient cases in which genomic profiling has identified structural variants with possible clinical relevance,

Improvements in nucleic acid sequencing technology have made the routine detection of structural alterations such as gene fusions, amplifications, and genomic instability signatures possible. In particular, the clinical relevance of gene fusions has expanded, resulting in both FDA-approved and clinically supported treatment options. Additionally, the increased utilization of comprehensive genomic analyses has the potential to inform a broad range of co-occurring somatic and germline alterations that may be associated with hereditary disease, therapeutic selection, and primary- and acquired- resistance to treatments.

However, this technological progress has increased clinical challenges for oncologists, as they try to keep up with therapeutic opportunities and understand how to prioritize treatment options amid other biomarker-informed therapies that could also potentially benefit patients based on their comprehensive genomic profiling results.

Our panel will address these challenges and opportunities within the context of specific clinical cases. The session will wrap up with a live Q&A in which attendees can discuss the cases with the Virtual Molecular Tumor Board panelists.

Sponsored by

Personal Genome Diagnostics
Nov
10
2022

Sponsored by Beckman Coulter Life Sciences

Single-Cell Antibody Discovery in Pharma R&D Using “Islands of Automation”

Eli Lilly, a global healthcare leader, has implemented a next generation research (NGR) initiative to improve the value output of the R&D portfolio. One of the NGR pillars focuses on decreasing the timeline to bring medicines to patients. Lilly has invested in ‘Islands of Automation’ to advance the B-cell antibody discovery platform at the Lilly Biotechnology Center in San Diego with the goal of significantly increasing throughput and reducing project timelines.

In this webinar, Paul Anderson, director of biologics discovery automation at Eli Lilly will focus on the automated systems that have been developed as part of this platform. This highly automated approach to antibody discovery has enabled Lilly to meet aggressive timelines and dramatically increase throughput while allowing flexibility for future changes to its process.

Key Learning Objectives

·       Monoclonal antibody discovery from single B cells.

·       Modular automated systems that allow for maximum flexibility to support several workflows in addition to monoclonal antibody discovery.

·       Automated system design and optimization.

Who should attend?

Research and pharma professionals working in cell line development, biologics and biotherapeutics that are seeking to improve reproducibility, efficiency, and data integrity in their campaigns and workflows.

This webinar will be pre-recorded but attendees are invited to participate in a live Q&A with Anderson.

Sponsored by

Nov
09
2022

Sponsored by Thermo Fisher Scientific

Case Study Overview: Accelerate and Streamline Chromosomal Microarray Reporting with AI

Chromosomal microarray analysis (CMA) is a first-tier molecular cytogenetics test helping to research and identify potential genetic causes of developmental delay, autistic spectrum disorders, or intellectual disability.

CytoScan AIR (AIR: automated interpretation & reporting) is an end-to-end data analysis solution that streamlines and automates the interpretation and reporting by combining the features of Chromosome Analysis Suite (ChAS) software and Franklin software by Genoox.

In this webinar, Yuval Yaron, director of the prenatal diagnosis unit at the Tel Aviv Sourasky Medical Center, will discuss his case study work using Franklin and how CytoScan AIR Tokens will allow his team to perform comprehensive CNV detection, analysis, and interpretation and efficiently research and understand complex genetic cases.

Professor Yaron will be joined by Assaf Sheffer, vice president of product at Genoox, who will review the key features of the CytoScan AIR solution including AI-driven clinical research interpretation dedicated for CNV gains, losses, and LOH, as well as updated relevant guidelines, CMA reporting, laboratory database management, and community-driven sharing of curated data.

The ChAS software is for research use only. Not for use in diagnostic procedures.

Sponsored by

Nov
08
2022

Sponsored by Thermo Fisher Scientific

Pharmacogenetics in the Perioperative Space: Multivariate Analysis Using Targeted Sequence Interrogation

Postoperative pain control remains a major challenge for patients, providers, and healthcare systems with no tools available to routinely personalize medication selection. Multiple genes have been implicated in explaining some of the variation among postoperative patient response, and initial randomized controlled trials indicate that single-gene pharmacogenetic analysis can improve postop outcomes. However, most professional guidelines to date (e.g. CPIC) only provide recommendations for single gene/drug interactions.

In this webinar, Jeremy Stuart, CSO of Precision Genetics, will discuss the Prospective Outcomes and Molecular Implementation Support Registry (PROMISRx) study that aims to better explain the interpatient variability in response to perioperative medications/treatments in an effort to predict postoperative outcomes.  Stuart will share data on key genetic analysis assays including variable-number tandem repeat (VNTR) detection of serotonin transporter genes and various opioid receptor sites using fragment analysis. 

You will learn about:

  • Avenues for improved pharmacogenetic analysis.
  • Multivariant analysis using fragment analysis.
  • Benefits of cooperative relationships between service providers and health systems.

Sponsored by

Nov
01
2022

Sponsored by Personal Genome Diagnostics

Therapeutic Case for Expanding Germline Cancer Risk Panels: Implications for HRD and Beyond

The webinar is part two of a four part molecular tumor board series.

The use of germline multi-gene hereditary cancer panels to identify patients at risk for heritable malignancies, such as breast and ovarian cancer, has been widely applied.  These panels primarily assess the genes involved in homologous recombination or those important for mismatch repair (Lynch syndrome). Recent studies have expanded the utility of hereditary cancer panels, with a significant risk found independent of type of solid tumor or presence of family history. This has important implications for counseling patients and their families around matters of cancer risk, screening, and early detection. The results of these panels also influence therapy selection for patients with cancer. 

More recently, the association between mismatch repair deficiency and response to immune checkpoint inhibitors (PD-1, PD-L1, CTLA-4) has broadened interest in Lynch syndrome assessment, while the approval of PARP inhibitors has driven demand for identifying patients with underlying BRCA1 or BRCA2 mutations or tumors with homologous recombination deficiency (HRD). New biomarkers for targeted therapy also have implications for hereditary cancer risk and increase the clinical complexity for most oncologists, as they try to keep abreast of guidelines, new indications for therapy, when to refer a patient for genetic counseling, and how to prioritize mismatch repair or HRD-associated therapy options with others revealed in the comprehensive genome profile.

Our panel will address these challenges within the context of specific clinical cases. The session will wrap up with a live Q&A in which attendees can discuss the cases with the Virtual Molecular Tumor Board panelists.

Sponsored by

Personal Genome Diagnostics