Acute leukemia patients often wait days or even weeks for the full battery of molecular tests needed to guide treatment decisions. Dr. Parth Shah from Dartmouth believes long read sequencing can dramatically shorten that timeline. In this episode, Shah joins Agilent's Rita Shaknovich and Oxford Nanopore's Claire Attwooll to discuss some details of how long reads are beginning to move from research applications into routine clinical testing.
Along the way, we explore the role of targeted enrichment, quality control, automation, and informatics in making these workflows practical for real-world laboratories.
For Shah, the field has reached an inflection point. After more than a decade of development, he argues that long reads are finally positioned to make the leap into clinical genomics. “As we ask more complex questions of human biology, long read is probably going to be the best ammunition that we have,” he says. His team at Dartmouth has already demonstrated the potential in acute myeloid leukemia, where a long-read workflow can now generate a comprehensive molecular profile within 24 hours rather than the weeks often required by conventional testing.
Shaknovich emphasizes that the opportunity is not simply generating more data, but generating better data. Long reads, she notes, can simultaneously capture mutations, structural variants, and epigenetic information, creating a richer biological picture than many existing approaches.
Attwooll highlights the flexibility that has emerged in the long-read ecosystem. Researchers can now choose among whole-genome sequencing, targeted enrichment, and Oxford Nanopore’s adaptive sampling approaches depending on the clinical question. She argues that the field is moving from a niche technology toward a mainstream platform for translational and clinical applications.
A recurring theme throughout the conversation is that no single technology will dominate every application. Whole-genome long reads, targeted enrichment, and adaptive approaches each have a role to play. As these methods move from research into routine testing, success will depend on more than sequencing alone. Agilent's established customer base, automation capabilities, quality-control tools, and experience supporting laboratories help provide the infrastructure needed to bring Oxford Nanopore's rapidly advancing long-read technology into practical clinical workflows.
