GenomeWebinars

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.

As public health officials contemplate the next potential infectious disease pathogen — caused by a hypothetical, unknown 'Disease X' as adopted by the World Health Organization — stakeholders must consider lessons learned from COVID-19 and look to future molecular testing technologies and strategies to ensure that the world is ready. In particular, special attention must be paid to lower-resource areas of the world to ensure that molecular testing is expedient and equitable in the next pandemic.

Please join us to hear four experts discuss these issues and more in a virtual roundtable webinar: Amesh Adalja, Senior Scholar at the Johns Hopkins Center for Health Security, an Adjunct Assistant Professor at the Johns Hopkins Bloomberg School of Public Health, and an Affiliate of the Johns Hopkins Center for Global Health; Emmanuel Agogo, Director, Pandemic Threats Programme at FIND, the global alliance for diagnostics; Claudia Denkinger, Professor of Medicine/Infectious Diseases and Director of the Department of Infectious Diseases and Tropical Medicine at University Hospital Heidelberg; and Jennifer Nuzzo, Director of the Pandemic Center, and Professor of Epidemiology at the Brown University School of Public Health.

Running a high-throughput clinical diagnostic lab presents a unique set of informatics challenges, from processing test results to compliance. In this webinar, Angela Kenyon, director of bioinformatics at LabCorp, will present how LabCorp is addressing these challenges with the help of Sapio Sciences. She will be joined by Mike McCartney, chief commercial officer at Sapio Sciences, who will introduce TRACE and discuss how to pinpoint the sources of delays, errors, and inefficiencies.

TRACE is a comprehensive diagnostic tool designed to identify bottlenecks in lab operations, mitigating issues like misplaced samples, frequent errors, or fragmented data. It uses a series of scored questions to assess critical measures, such as turnaround time, real-time tracking, accuracy of data, compliance, and efficiency. TRACE is designed to help understand where labs stand and what areas need improvement to ensure seamless operations and high-quality outcomes.

Conventional molecular methods for identifying hemoglobinopathies and thalassemia often do not simultaneously detect copy number variations and mutations in the α-globin and β-globin genes. These limitations can lengthen turnaround times, raise costs, and sometimes miss critical information. 

In this webinar, Shabnam Tavassoli of the Hemoglobinopathy Reference Laboratory at UCSF Benioff Children's Hospital will present data on using NGS to detect hemoglobinopathies and thalassemia for the Newborn Screening Follow-Up Program in California. Tavassoli and colleagues assessed the NGS kit, Devyser Thalassemia, on samples from 107 newborns. The kit demonstrated high sensitivity and specificity in detecting both deletions and mutations. Notably, it successfully identified all cases of α-thalassemia and β-thalassemia, including compound heterozygous conditions.

The team found that screening for both deletions and mutations simultaneously provides a comprehensive genetic profile for newborns, facilitating early and accurate detection. This dual capability is particularly advantageous in regions with a high prevalence of thalassemia, where traditional methods may miss critical genetic variations.

What You Will Learn:

• How NGS can offer simultaneous detection of deletions and mutations in α- and β-globin genes in one test
• The advantages of comprehensive genetic profiling in newborns for faster and more accurate results
• How the assay enabled the discovery of Xmn1 polymorphisms and additional gene deletions 

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.