GenomeWebinars

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.

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.

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