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GenomeWebinars: Recent

Aug
03
2022

Sponsored by DNAnexus

FASTQ to Final Report: An Ultra-Fast Workflow for Comprehensive Genomic Profiling

As molecular knowledge of cancer continually evolves, comprehensive genomic profiling (CGP) is ushering in a new era in cancer care. With a single CGP test, pathologists and providers can interrogate hundreds of genes, using less tissue and increasing the probability of detecting actionable findings. Yet, one of the most difficult challenges of implementing CGP in-house is the downstream variant analysis and interpretation. One CGP panel can yield thousands of genetic variants. Analyzing these variants and effectively managing the data can be incredibly time-consuming and complex.

In this webinar from DNAnexus, speakers discuss how DNAnexus and Qiagen Digital Insights are partnering to develop an agnostic, end-to-end workflow for comprehensive genomic profiling that goes from FASTQ to final report within minutes.

Sponsored by

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Jul
28
2022

Sponsored by Bio-Rad

Wastewater Monitoring for Monkeypox and SARS-CoV-2 Omicron Sublineages: Lessons Learned from the COVID-19 Pandemic

Several academic, industry and public health laboratories successfully implemented wastewater-based epidemiology (WBE) to track community-wide infection trends during the COVID-19 pandemic. Shedding patterns of the monkeypox virus (hMPXV), a burgeoning, worldwide, and rapidly spreading pathogen, reveal a putative candidate for WBE.

This webinar will discuss a partnership between Bio-Rad and GT Molecular to harness ultrasensitive, Droplet Digital PCR (ddPCR) approaches to quantify and track outbreaks of hMPXV. The presentation will also address the use of ddPCR to quantify and distinguish other wastewater-borne pathogens, including the SARS-CoV-2 Omicron sublineages BA.1, BA.2.12.1, BA.4, and BA.5.

Attendees of this webinar will learn about:

  • The worldwide spread of hMPXV and the pandemic declaration by the World Health Network
  • The potential for ultrasensitive ddPCR in community-wide wastewater surveillance programs.
  • Proof-of-principle for using ddPCR in WBE monitoring for hMPXV, including potential limits of detection and other implementation considerations.

Sponsored by

Jul
26
2022

Sponsored by Genetic Signatures

Molecular O&P – A Streamlined Workflow for Ova and Parasite Testing and Patient Management

This webinar is the second of a three-part series on Advances in Gastrointestinal Protozoa Testing. The first webinar gave a broad overview of the key parasites causing gastrointestinal disease, traditional diagnostic methods used to detect ova and protozoa, and the benefits of employing a molecular approach.

In this second webinar, two leading experts in medical diagnostics, Lynne Garcia and Damien Stark, will further discuss the advantages of the molecular detection of gastrointestinal parasites and provide an overview of the molecular diagnostic workflow for pathology laboratories. This will include describing the workflow from sample to result and reporting, and the subsequent clinical support for improved patient management. Eight clinically relevant protozoan pathogens that cause significant disease and negative health outcomes will be discussed including:

  • Giardia spp.
  • Cryptosporidium spp.
  • Cyclospora cayetanensis
  • Entamoeba histolytica
  • Dientamoeba fragilis 
  • Blastocystis spp.
  • Enterocytozoon bieneusi
  • Encephalitozoon intestinalis

Sponsored by

Genetic Signatures Logo
Jul
20
2022

Sponsored by VolitionRx

The Promise of Neutrophil Extracellular Traps (NETs) as Biomarkers in Inflammatory Disease

Neutrophil extracellular traps (NETs) are components of the innate immune system that were initially discovered in 2004. NETs are weblike structures comprising chromatin fibers and cytotoxic peptides that are extruded by neutrophils in a process called NETosis.

The mesh of chromatin strands traps and neutralizes pathogens locally to the site of an infection, thus preventing its spread to the whole body. However, uncontrolled, excessive, or inappropriate release of NETs can itself be pathogenic. Excess or inappropriate NETosis is associated with organ injury in sepsis and COVID-19 as well as many inflammatory and hemostatic conditions. High levels of NETs are also reported to be associated with the metastatic spread of cancer.

In this webinar, Andrew Aswani, a specialist in Intensive Care at Guy’s and St Thomas’ NHS Foundation Trust and Chief Medical Officer of therapeutic apheresis developer Santersus, will discuss the medical and clinical significance of NETs in the development of severe sepsis, COVID-19, and other diseases.

Dr. Aswani will also present data showing the predictive value of the Volition Nu.Q NETs test, an automated CE-marked test for the measurement of circulating NETs, in COVID-19.

Jake Micallef, Chief Scientific Officer of Volition, will present data on the use of Nu.Q NETs as a companion diagnostic with therapies directed at the removal of NETs or the inhibition of NETosis.

Sponsored by

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Jun
23
2022

Sponsored by Antylia Zeptometrix

Best Practices for Maintaining Quality in Molecular Diagnostic Testing

Molecular diagnostics has quickly become one of the leading global technologies for infectious disease testing. As such, clinicians and physicians rely on the results generated from these tests for accurate patient diagnoses. The field is constantly growing and evolving to meet the demands of infectious disease testing, but what remains constant is the importance for laboratories to maintain rigorous quality management practices, including quality control, to help ensure reliable test results.

With multiple regulatory and accreditation bodies like ISO, CLIA, CAP, and CLSI weighing in on good laboratory and quality practices, it can be challenging to implement a quality management system for your laboratory. This webinar will elucidate the current landscape of considerations for implementing a quality system in laboratories running molecular diagnostic assays, including quality controls.

At the end of this webinar, attendees will be able to:

  1. Describe the relevant regulatory and quality system management principles as they apply to laboratories running molecular diagnostic tests.
  2. Design appropriate quality control strategies for molecular/PCR-based testing methodologies.
  3. Identify tools to help implement effective quality management of molecular diagnostic tests.

Sponsored by

Antylia Zeptometrix
Jun
22
2022

Sponsored by Millipore Sigma

Designing, Scaling, and Commercializing In Vitro Diagnostics Based on Disruptive Technologies

From molecular diagnostics based on PCR and next-generation sequencing (NGS) to those incorporating CRISPR, strategies used in the design of in vitro diagnostic (IVD) assays increasingly take advantage of disruptive technologies at the forefront of innovation. This presentation will review the DETECTR technology, a proprietary CRISPR-based detection method developed by Mammoth Biosciences. This presentation will also discuss challenges in the development of diagnostics assays using cutting-edge technology, provide insight into a high-throughput SARS-CoV-2 detection assay based on the DETECTR technology, and highlight the collaboration between the technology developer and contract manufacturer, MilliporeSigma. The result of the successful collaboration is a CRISPR-based diagnostic test that has equivalent performances to PCR but has a shorter turnaround time.

The audience will learn:

  • Strategies in the design of an IVD using disruptive technologies. 
  • How to bring a CRISPR-based diagnostic test to a scaled-up commercialized product.
  • Steps in the scale-up and commercialization of the product.

Sponsored by

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Jun
17
2022

Sponsored by Applied BioCode

A Clinical Lab’s Journey to Gastrointestinal Syndromic Molecular Testing using Barcoded Magnetic Bead Technology

Gastrointestinal (GI) illness (gastroenteritis) is inflammation of the stomach and small and large intestines. The main symptoms include vomiting and watery diarrhea. Infections causing gastroenteritis can be viral, bacterial, or parasitic in origin. Since the spectrum of pathogens that cause GI infections is quite broad, the detection of pathogens typically requires an assortment of approaches (culture, antigen detection, stool parasite microscopy) to identify the causative agent. Multiplex molecular tests enable labs to test at once for several of the most common GI pathogens while providing improved analytical specificity and sensitivity and turnaround times. 

This webinar will discuss a study in which a clinical lab evaluated the Applied BioCode Gastrointestinal Pathogen Panel (GPP) assay, focusing on the four most common bacterial targets as well as virus and parasite targets.

The Applied BioCode GPP assay is an FDA-cleared, high complexity test that detects 17 of the most common GI pathogens including viruses, bacteria, and parasites that cause infectious diarrhea. It is run in a high-throughput 96 well microplate format on the automated BioCode MDx-3000 System, which combines the amplification, hybridization, and detection steps for the assay. The automation of these steps into a single system decreases costs, hands on time, and minimize potential contamination risk.

Sponsored by

Applied BioCode
Jun
07
2022

Sponsored by Agena Bioscience

Using a Mass Spectrometry-Based Platform to Perform Population-Based Newborn Screening for Cystic Fibrosis in the State of Illinois

Cystic fibrosis (CF) is a genetic disorder that mainly affects the respiratory and digestive systems, resulting in a variety of symptoms, including difficulty breathing, infertility, and poor growth in children. Fortunately, CF can easily be diagnosed through newborn screening. When diagnosed early, patients can avoid most of the severe adverse effects. The current methodology for CF screening minimally involves the detection of 23 different disease-causing mutations that occur within the CFTR gene, as recommended by the American College of Medical Genetics (ACMG). Many CF newborn screening pipelines use immunoreactive trypsinogen (IRT) levels as a first-tier laboratory test for CF, as high IRT levels indicate potential pancreatic damage and are commonly associated with the disease. Babies with high IRT levels are then typically considered for second-tier CF testing. Various methods have been used to detect CF mutations, including DNA hybridization and sequencing approaches. However, there has yet to be a high-throughput study that has explored the robustness and reliability of a MassArray-based detection system for CF newborn screening.

In this webinar, Vineet Dhiman, laboratory research scientist for the Illinois Department of Public Health, will discuss population-based newborn screening of CF in the state of Illinois using the Agena Bioscience MassArray instrument, which currently has the capacity to detect the heterozygosity status of 72 CF-related mutations. With the implementation of this CF screening approach beginning in March 2018, the CF status of over 10,000 specimens has been successfully assessed using DNA extracted from dried blood spots. Mutations that are part of the ACMG recommended panel as well as other rare mutations have been positively identified. Although some caveats exist with data interpretation and potential for repeat experiments due to the nature of the MALDI-TOF workflow, the Agena MassArray instrument provides a cost-effective option for CF screening assay for newborn screening laboratories.

Sponsored by

Jun
02
2022

Sponsored by Thermo Fisher Scientific

Respiratory Testing in the COVID-19 Era: Implementation and its Challenges

As respiratory testing grows in prevalence in light of the COVID-19 pandemic, there are considerations and challenges clinical labs and clinicians must deal with. How can a laboratory best implement syndromic testing for multiple respiratory diseases? What are the benefits of multiplex testing versus single-panel testing? What should a clinician know before ordering these tests? How can labs quickly address new SARS-CoV-2 variants that may arise? And what role does reimbursement play in clinical decision-making, both in the US and internationally?  

This virtual roundtable discussion will address these concerns and more with a panel of industry stakeholders from the US, Europe and South Africa, who will discuss strategies for respiratory testing implementation in a world where COVID-19 is becoming endemic.

The session will include a live Q&A in which attendees can post questions to our panelists.

The panelists on this session are Emily Volk, MD, FCAP, President at the College of American Pathologists, Emmanuel Andre, MD, PhD, Medical Microbiologist at the University Hospitals of Leuven and Professor of Medicine at the KU Leuven, Benjamin Pinsky, MD, PhD, Associate Professor in the Departments of Pathology and Medicine at Stanford University School of Medicine, Sergio Carmona, MD, PhD, Chief Medical Officer at FIND and Jennifer Dien Bard, PhD, Associate Professor at USC Keck School of Medicine and Director of Microbiology at Children’s Hospital Los Angeles.

Sponsored by

May
23
2022

Sponsored by Millipore Sigma

Bringing Revolutionary CRISPR-based Diagnostics to Market

In this video, Tim Patno, Vice President of product development for Mammoth Biosciences, describes how the company uses the latest CRISPR technology to read and write the code of life.

Through the power of CRISPR-Cas systems, Mammoth Biosciences aims to make fast and simple molecular diagnostic solutions more widely available, something that has been made possible through collaboration with Merck. To this end, Dr. Yves Dubaquie, Head of Diagnostics Solutions at Merck, describes how manufacturing expertise and critical raw materials quality and supply is pivotal in ensuring success.

Sponsored by

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May
13
2022

Sponsored by Qiagen

Solving Every Hereditary Disorder Case for All Types of Genetic Variation

Despite incredible advances in genomics, the NGS data interpretation workflow for hereditary diseases remains challenging. The field is rapidly evolving, and novel findings are uncovered daily, resulting in thousands of new articles on human genetic variants being added each week to PubMed. For genetic testing labs, missing even one article among millions can mean the difference between a diagnosis or an inconclusive result.

This on-demand webinar from Qiagen shows, through a series of use cases, how to maximize the diagnostic yield of hereditary disorders with QCI Interpret, a clinical decision support platform that can streamline the interpretation workflow using a comprehensive collection of up-to-date, manually curated molecular knowledge and bibliography evidence.

In this webinar, you will:

  • Learn about QCI Interpret’s analysis and interpretation workflow for hereditary diseases using targeted and extended gene panels, including WES/WGS.
  • View demonstrations of unique features in QCI Interpret, including how to input symptoms relevant to a case and receive relationships to candidate diseases and mutated genes using the Phenotype Network Analysis feature.
  • Learn how QCI Interpret supports CNV interpretation and reporting with bibliographic coverage of over 60,000 CNV case reports.

Sponsored by

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Apr
27
2022

Sponsored by Grail

Multi-Cancer Early Detection: Implementation Considerations for Health Systems

The earlier cancer can be detected, the higher the chance of survival. Currently, nationally recognized medical organizations only recommend routine screening tests for a few single cancers such as breast, colorectal, lung, and cervical. As a result, three out of four invasive cancers do not have recommended screening tests, with the majority of cancers being diagnosed too late when outcomes are often fatal, and costs are high.

In this presentation, Lincoln Nadauld, chief of precision genomics at Intermountain Healthcare, will discuss how Intermountain plans to offer Galleri, a multi-cancer early detection test shown to detect a cancer signal across more than 50 cancers with a simple blood draw, to its eligible employee population. Nadauld will talk about why early detection is an important initiative for Intermountain, the strategies and considerations to implement a multi-cancer screening test within a health system, and why providing a multi-cancer test can be a valuable benefit to employees. 

Attendees will:

  • Gain knowledge on how offering an early detection blood test may help differentiate a health system.
  • Discover the science and clinical validation behind the Galleri test.
  • Learn about implementation considerations, including PCP training, post-positive workups, and billing.
  • Assess how providing a multi-cancer test can benefit employees.

Sponsored by

Grail
Apr
26
2022

Sponsored by Genetic Signatures

The Burden of Gastrointestinal Parasites and Advances in Ova and Parasite Diagnostic Screening

This webinar is the first of a two-part series on Advances in Gastrointestinal Protozoa Testing: Molecular Ova and Parasite Investigations that aims to highlight the prevalence of gastrointestinal (GI) protozoan infection, the significant health and economic burden, and the recent advances in rapid and accurate testing techniques. Traditional screening methods for detecting ova and parasites (O&P) have many challenges including longer sample to result time and the potential for missed diagnosis. Delayed treatment presents considerable challenges for patients and health professionals alike, with some pathogenic protozoan infections lasting for long periods of time. Recent advances in molecular diagnostics can complement traditional O&P methods, increasing the positive detection rate and speed in detecting GI protozoa and coinfection.

Attendees will learn about:

  • Disease burden and current laboratory testing methodologies for GI protozoa in the US.
  • The challenges faced by clinicians and pathology laboratories using traditional O&P detection methods.
  • Workflow advantages of molecular ova and parasite investigation.
  • Benefits of molecular testing to support laboratory workflow.

Sponsored by

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Apr
06
2022

Sponsored by Qiagen

The Predictive Value of Interferon-Gamma Release Assays and the Role of CD4+ and CD8+ T Cells in the Immune Response to Tuberculosis

In this webinar, Lucia Barcellini, medical consultant in the pediatric emergency department at Buzzi Children’s Hospital in Milan, Italy, will discuss the role of CD4+ and CD8+ T cells in the immune response to tuberculosis (TB) infection. She will discuss how phenotypic and functional profiles of T cells can be a valuable marker of disease activity and assist diagnosis in special groups.

Lei Gao, professor at the Institute of Pathogen Biology at the Chinese Academy of Medical Sciences and Peking Union Medical College, will discuss the protective efficacy of TB preventive therapy and its association with interferon-gamma release assay (IGRA) results in the context of its predictive value. He will also discuss the role and place of IGRA assays in evaluating the national latent tuberculosis infection burden in China.

Sponsored by

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Mar
18
2022

Clinical Trial Assay Development and Validation: Strategies for Success

Molecular biomarkers offer tremendous potential to classify patients into subgroups of relevance for prognostic and predictive utilities. However, there are many challenges and considerations in translating a biomarker to a molecular diagnostic test. When defining the intended use of novel biomarkers, decisions including specimen collection, molecular content, and platform selection can have a significant impact on a biomarker program.

A strategic approach to the development and analytical validation of clinical trial assays at each stage of clinical validation ensures the highest quality molecular data is acquired in the most efficient way while minimizing the potential risk of product redesign for biopharma companies.

Almac Diagnostic Services has substantial experience in analytical validation across all stages of diagnostic test development from utilization in early proof of concept trials through to IVD companion diagnostic tests, often consulting to help guide biopharma companies through the process.

This on-demand webinar from Almac highlights a series of case studies to explore the strategic considerations at each stage of the development and validation journey to ensure that assays are both robust and compliant with appropriate global regulatory frameworks for prospective clinical trial stratification.

Participants will learn about:

  • Key considerations in the development and validation of assays for clinical stratification.
  • The importance of adequate specimen collection & stabilization.
  • Major factors influencing platform selection.
  • The requirement of bridging studies and lessons learned.
  • Challenges of demonstrating adequate analytical performance of panels.
  • Considerations for data analysis pipelines.