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Panel Discussion: From Precision Medicine to Precision Analysis: Integrating Long-Reads as a Frontline Diagnostic
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Clinical Integration: From Research Tool to Diagnostic Standard
What are the practical challenges in bringing long-read sequencing into frontline clinical workflows (e.g. NHS, hospital labs)? How are clinicians and diagnostic labs adapting to the requirements of real-world deployment?
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Analytical Power vs Operational Complexity
Long-reads offer superior detection of structural variants, repeat expansions, and phasing—but can clinical teams interpret and act on this data consistently? Are current pipelines and staff prepared for the added complexity?
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Cost, Throughput, and Infrastructure Barriers
What are the cost-benefit realities of using long-reads as a primary diagnostic tool versus short-reads or hybrid approaches? How do we justify investment in new sequencing platforms and retraining?
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Unlocking Diagnostic Yield in the Unsolved
Long-read sequencing has shown promise in uncovering previously undiagnosable cases in rare disease and cancer. Where has it already improved outcomes, and what evidence is still needed to support routine adoption?
