I started watching the “Onsite lighting talks at London Calling 2023” playlist. Bradley Hall from Asuragen in the USA presented “The dark side of carrier screening: illuminating hard-to-decipher genes in common genetic disorders with nanopore sequencing.” Hall explained how carrier screening has evolved and the number of gene targets included in different screens. Hall emphasized that everyone is a genetic carrier of diseases or conditions. This statement is difficult to process yet so intriguing. One challenge is that, currently, labs must be proficient in multiple workflows to test for many variants. Thus, often these tests are conducted by centralized labs and take time to process. The eleven-gene panel that Asuragen developed covers several variants. One key advantage is that Asuragen’s panel is streamlined. The panel works by amplification, enrichment, and Nanopore sequencing. The clinician now has an intuitive report and can provide more accurate information to the patient.
