GenomeWebinars

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.

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.

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.

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.

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.