GenomeWebinars: Recent

Adverse drug events (ADE) account for approximately 1.3 million emergency room visits each year with 350,000 patients needing to be hospitalized for further treatment. Pharmacogenomics (PGx) testing is a fast-evolving and essential tool for providing better, safer, and more personalized patient healthcare in an effort to reduce ADEs. In this webinar, past AMP president and renowned PGx thought leader Vicky Pratt and director of precision medicine at LetsGetChecked Bronwyn Ramey will discuss the current and future state of the PGx testing landscape. 

What you’ll learn:

• Views on the current status of PGx testing.
• Recent PGx testing guideline developments.
• Thoughts on the trajectory and future of precision medicine.

The global challenge of antibiotic resistance, driven by "superbugs", has spurred Certest Biotec to develop a rapid and flexible solution for detecting antibiotic resistance genes in several bacterial pathogens, enabling fast and effective treatment. This innovation combines precise robotics and lyophilization, ensuring accurate sample handling, long-term reagent stability, and cost-effective distribution. 

In this webinar, Cristina Escolar and Pablo Sanz, both product specialists for molecular diagnostics at Certest will: 

• Explain the problem of antimicrobial resistance from a public health perspective.
• Discuss applications of using real-time PCR to understand the main molecular resistance mechanisms involved.
• Demonstrate how molecular diagnosis speeds up decision making avoiding direct and indirect consequences.
• Show how working with an OEM partner helped them to scale their innovation. 
• Share key consideration factors for a successful OEM partnership.

The webinar aims to provide a comprehensive overview of the latest advancements in the clinical management of high-grade ovarian cancer, with a focus on incorporating information regarding homologous recombination deficiency (HRD) and BRCA statuses obtained through decentralized, in-house assays. Four experts in the field — one anatomic pathologist, two medical oncologists, and one biologist — will present selected clinical cases to illustrate the integration of in-house HRD and BRCA status assessment into routine clinical practice.

The speakers will discuss the challenges and benefits associated with the transition from a centralized testing system to a decentralized, in-house assessment, in terms of results reporting, management of indeterminate cases, and communication among involved healthcare professionals. 

This webinar will aim to foster interdisciplinary collaboration among oncologists, geneticists, pathologists, and molecular biologists, facilitating a holistic approach to the clinical management of the most deadly gynecological cancer in the promising era of personalized treatments for patients with high-grade ovarian cancer.

In this roundtable discussion, a panel of academic, commercial, and interested advocates will discuss the challenges and opportunities of providing expanded newborn screening by whole-genome sequencing to newborns. The panel will discuss the regulatory environment, design of service, response by physicians, response by parents, data management, and opportunities for “sequence once, re-analyze often” approaches.

Attendees will learn how current products are designed and commercialized today using a network of stakeholders to assure quality of service. In addition, parent advocates will discuss opportunities to limit diagnostic odyssey and how expanded newborn screening could help parents in the future.

This 20-minute, on-demand presentation sheds light on crucial aspects of bringing a genetic test to market. It covers:

• Advantages of FDA-Cleared Devices: Explore the benefits of utilizing US FDA-cleared Oragene Dx and ORAcollect Dx saliva collection devices in genetic tests and molecular diagnostics.

• Navigating Regulatory Considerations: Gain insights into the regulatory landscape for IVDs and LDTs and the strategic path for bringing genetic tests to market while complying with evolving regulations.

• Ease of Use and Customization: Understand the evidence supporting the ease of use of saliva collection devices with U.S. FDA general clearance. Learn how test kits can be customized to meet specific requirements, with streamlined offerings for test providers, and enabling a convenient experience for patients.

Speakers:

• Austin Udocor, Director, Regulatory Affairs, DNA Genotek Inc

• Tara Crawford Parks, Ph.D., Senior R&D Manager, DNA Genotek Inc

Please click here for the eCase study transcript. 

Helicobacter pylori infection affects nearly half of the world’s population. This webinar will review the demographics, pathophysiology, and complications of H. pylori infection, as well as several tests that are available for the diagnosis of H. pylori infection.

Our speaker, Dr. Aamir Ali, will discuss the strengths and weaknesses of each test, focusing on the recommendation of the gastroenterology societies to preferentially use tests of active infection rather than serology, which is a test of prior exposure.

Antibody development, scale-up, and mass manufacturing remain complex processes with many pitfalls and restarts. Part of the challenge is that the skill sets needed for each of the three main steps — development, scale-up, and manufacturing — are considerably different, requiring the commercialization team to master diverse technologies and techniques. Further, the team is faced with decisions on outsourcing parts of the process or investing in in-house expertise and capital expenditures. Often, when a project has narrow performance specifications or tight launch deadlines, seeking out an experienced partner like MilliporeSigma is prudent. This talk covers the key steps in the modern antibody development process for diagnostic assays using advanced technology and discusses case studies in which MilliporeSigma's R&D and manufacturing teams solved some of the toughest challenges in antibody commercialization.

Please click here for the eCase study transcript.  

Clinical metagenomic next-generation sequencing (mNGS), the comprehensive analysis of microbial and host DNA and RNA in samples from patients, is rapidly moving from research to clinical laboratories. This emerging approach is changing the diagnosis and treatment of diseases, with applications in a range of areas, including oncology, human host gene expression (transcriptomics), and antimicrobial infections and resistance.

In this webinar, Elif Dagdan, the director of the Center for Medical Genetics at Augusta Hospital Bochum in Bochum, Germany, will discuss real-world applications of using clinical mNGS to improve diagnostics of cancer and infectious diseases. The talk will also feature challenges and opportunities of using mNGS in disease diagnostics and how Dagdan’s lab uses clinical variant interpretation and reporting software from Qiagen to detect and characterize pathogenic somatic variants.

Dagdan will discuss:

• How mNGS can be used to assess homologous recombination deficiency (HRD) status in patients with ovarian cancer.
• How mNGS can be used to assess cell-free microbial DNA via liquid biopsy to aid in early-stage lung cancer diagnosis.
• How mNGS can improve the accuracy and speed of infectious disease diagnostics, with a use-case on cardiovascular infections in intensive care units.

Complete blood counts requiring morphological examination are a notorious bottleneck in the hematology lab. They are personnel- and expertise-intensive and require time-consuming manual microscopy and workflows.

But what if these workflows were digitized such that manual microscopy was no longer necessary? What would be the impact on lab efficiency and patient care?

Facing slow throughput and ongoing staffing pressures at his lab, Dr. Lukas Graf and his team at the Center for Laboratory Medicine (ZLM) in St. Gallen, Switzerland, asked that question and found an unequivocal answer.

In this webinar, you’ll hear from Dr. Graf, who is head of the Department of Clinical Chemistry, Hematology, and Immunology at ZLM, about their experience adopting digital workflows and remote diagnostic reviews.

Tune in to learn:

• How digital workflows transformed turnaround times and throughput for peripheral blood smear review at ZLM
• The role of full-field technology in the remote diagnostics equation
• How ZLM's staff responded to the dramatic change in workflows and technology at their hub and satellite lab

The UK Biobank, a rich source of genetic data on half a million people, provides a large collection of clinical data from different healthcare providers and sources resulting in inconsistent medical terminology. To provide a more comprehensive picture of one’s medical history to support genetic and other analyses, clinical data cleaning and standardization are needed.

In this webinar, Sándor Szalma, global head of genetics and systems biology at Takeda Pharmaceuticals, will discuss how, using the UK Biobank Primary Care clinical dataset, Takeda and Rancho Biosciences teams evaluated several approaches to map a subset of Read codes to ICD and SNOMED CT disease terms. Challenges in mapping Read codes were identified. A curation and data integration pipeline for harmonizing diagnoses is proposed and can be used for other biobank and EHR data standardization. 

Point-of-care molecular diagnostics arose during the COVID-19 pandemic to fulfill a specific niche in testing menus. These point-of-care tests further expanded to include respiratory panel testing focusing on 4-plex design including COVID-19, influenza A, influenza B, and RSV as the major actionable pathogens. With the triple-demic of the winter of 2022, each of these viruses spiked at levels much higher than during the pandemic. Thus, panel testing became important to test for each virus at the same time, given the similar respiratory symptoms. Point-of-care testing fills in gaps in settings like doctor's offices, urgent care clinics, and emergency departments where patients cannot wait for multiple hours for a result. When deciding whether to implement POC testing, laboratory directors must consider limitations and required protocols for their use. 

In this on-demand GenomeWebinar webinar sponsored by LGC Clinical Diagnostics, Jeff SoRelle, assistant professor of pathology at UT Southwestern Medical Center discusses the challenges of implementing point-of-care molecular tests, including how he and colleagues have found that alternative sample types such as saliva, nasal swabs, or viral transport media can be used, but point-of-care devices typically don't have the same level of sensitivity as traditional PCR instruments. The proper operation also requires daily QC practices to be adhered to in order to produce optimal results in compliance with CLIA lab standards.

Point-of-care molecular diagnostics arose during the COVID-19 pandemic to fulfill a specific niche in testing menus. These point-of-care tests further expanded to include respiratory panel testing focusing on 4-plex design including COVID-19, influenza A, influenza B, and RSV as the major actionable pathogens. With the triple-demic of the winter of 2022, each of these viruses spiked at levels much higher than during the pandemic. Thus, panel testing became important to test for each virus at the same time, given the similar respiratory symptoms. Point-of-care testing fills in gaps in settings like doctor's offices, urgent care clinics, and emergency departments where patients cannot wait for multiple hours for a result. When deciding whether to implement POC testing, laboratory directors must consider limitations and required protocols for their use. 

In this webinar, Jeff SoRelle, assistant professor of pathology at UT Southwestern Medical Center will discuss the challenges of implementing point-of-care molecular tests, including how he and colleagues have found that alternative sample types such as saliva, nasal swabs, or viral transport media can be used, but point-of-care devices typically don't have the same level of sensitivity as traditional PCR instruments. The proper operation also requires daily QC practices to be adhered to in order to produce optimal results in compliance with CLIA lab standards.

With the recent drop in sequencing costs, it has become feasible to track thousands of somatic variants from cancer genomes in plasma, achieving exceptional sensitivity for minimal residual disease (MRD) detection. In this webinar, Li Weng, senior vice president and head of R&D at AccuraGen, will elucidate the use of whole-genome sequencing (WGS) in detecting MRD in cancer patients and monitoring treatment response. Rade Drmanac, chief scientific officer and co-founder of Complete Genomics, will present how DNA nanoball sequencing technology eliminates index hopping and clonal errors, facilitating greater accuracy and flexibility during sequencing.

Attendees will learn:

• How the utilization of WGS empowers the highly sensitive detection of MRD in patients with solid tumors.
• The wealth of information that WGS provides beyond the detection of residual disease, and its potential impact on cancer patient management.
• The advantages of DNA nanoball sequencing technology.

In this webinar, a panel of experts will discuss the Somatic Reference Samples (SRS) Initiative, a public-private partnership convened by the Medical Device Innovation Consortium (MDIC) guiding the development of reference samples that can be used to develop and validate NGS-based cancer diagnostics.

Ensuring that oncology patients receive accurate results is imperative; however, the lack of agreed-upon, well-characterized, and community-validated reference samples and data benchmarks creates potential challenges for the efficient development of these tests and for understanding their results. A pilot project has been fully funded by industry and philanthropic organizations to develop, manufacture, and create an initial set of 10 reference samples together with validated data sets. 

The goals of this pilot project are to:

• Create a pathway for improved validation and accuracy of NGS-based diagnostic tests.
• Potentially transform the regulatory review process, expediting CDx and therapeutic development.
• Build a sustainable model for somatic reference samples and dataset generation.
• Expand to other cancers and diseases.

Panelists will discuss the rationale and benefits of this approach within the regulatory context as well as across the total product life cycle of diagnostics, as well as the potential of the approach to improve diagnostic development, reimbursement, adoption, and disease management for kit manufacturers and clinical testing laboratories.