Genomic advances in hereditary cancer: Optimizing variant detection and interpretation workflows

Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK, testing is delivered through the NHS Genomic Laboratory Hub network, with each lab supporting a broad range of clinical indications under the National Genomic Test Directory. This webinar will highlight the experience of the West Midlands Genomic Laboratory in implementing a next-generation sequencing (NGS) solution for hereditary cancer. The session will detail how transitioning to the SOPHiA DDM™ Platform enabled the lab to improve turnaround, reduce hands-on time, and enhance variant detection. Featuring a practical walkthrough of the SOPHiA DDM™ analysis workflow, the presentation will guide attendees through each stage — from quality control to the identification of challenging variants —  concluding with a preview of the new generation of SOPHiA DDM™ platform and a glimpse into the lab’s future plans for continued innovation.

 

Learning Objectives