Sarah Statt, Ph.D., is an R&D Senior Manager at Asuragen, a Bio-Techne brand and molecular diagnostics company that develops products in genetics and oncology. She earned her BS in Biochemistry and Molecular Biophysics at the University of Arizona, and her Ph.D. from UC Davis in Biochemistry and Molecular Biology. At Asuragen, she develops novel amplification strategies that resolve challenging genetic targets, extending the company’s core AmplideX PCR technology to additional pathogenic repeat markers and long-read platforms.

Expanded carrier screening requires both NGS and non-NGS methods due to difficulties sequencing many high-prevalence genes. We sought to streamline this approach and improve detection rates by combining both routine and challenging carrier genes within a mid-sized panel using a single-platform workflow. By pairing novel long-range AmplideX PCR with nanopore sequencing and algorithms, we demonstrate the feasibility of a technology that accurately resolves different classes of problematic genes and variants, and can expand to include hundreds of multiplexed amplicons from more conventional carrier genes. This approach has promise to address real-world gaps in carrier screening through more equitable, decentralized testing.