The evolving landscape of expanded carrier screening given increasing ethnic diversity and genomic advancements
Join this two-part workshop to hear Linda Hasadsri, MD, PhD, Co-Director of the Genomics Laboratory at Mayo Clinic, share an educational overview of expanded carrier screening (ECS). Additionally, Dr. Hasadsri will share the ECS experience at Mayo, including a deep dive into several interesting case studies illustrating the complexities of ECS.
Our second speaker, Dr. Jose Luis Costa, Director of Medical Affairs at Thermo Fisher Scientific, will introduce and describe a new next-generation sequencing (NGS) assay for the detection of SNVs and CNVs, including variants in technically challenging genes such as HBA1/2 and SMN1/2. This new assay and the accompanying software with specialized algorithms offers a solution to consolidate multiple technologies into a single NGS assay. Dr. Costa will also share the internal evaluation results and simplified bioinformatics workflow.
Linda Hasadsri, MD, PhD
Jose Luis Costa, PhD