Director of Molecular Diagnostics New York Genome Center, NY, NY New York City, New York, United States
High-throughput carrier screening assays using next-generation sequencing (NGS) can now identify reproductive risks for hundreds of diseases across a large number of genes. While NGS provides high-quality sequence data, it also presents new challenges. This talk will introduce an algorithm designed to help testing laboratories choose the best methodologies to maximize the clinical sensitivity of carrier screening assays for ACMG-recommended Tier 3 genes. The effectiveness of testing approaches depends on the types of variants and the available techniques in each laboratory. The talk will also cover common disease-causing variant types and the recommended testing technologies for ACMG Tier 3 genes.
Learning objectives:
1. **Overview of Current Laboratory Techniques for Carrier Screening** Understand the various techniques currently used in laboratories for carrier screening.
2. **Identifying Challenges with Current Techniques** Recognize the challenges and limitations associated with these current techniques.
3. **Guidelines for Selecting Optimal Methodologies** Learn recommendations for choosing the best methodologies to maximize the clinical sensitivity of carrier screening assays.
