Map the specimen journey
Consider how tissue is selected, assessed, extracted and tracked. Establish how specimen adequacy is communicated before an assay starts.
Plan the analytical and reporting work together
Define responsibility for quality review, variant interpretation and final reporting. Clarify how unexpected findings and failed specimens will be handled.
Design around the laboratory workload
Batch size, staffing, repeat testing and clinical priorities influence turnaround time. A technically successful workflow also needs to be manageable for the team using it.
Build a feedback loop
Review quality trends, failed tests and communication with clinical colleagues after implementation. Use those observations to improve the process and to identify changes that require further verification.
References and further reading
Polonis K, et al. Innovations in Short-Read Sequencing Technologies and Their Applications to Clinical Genomics. Clinical Chemistry. 2025;71(1):97–108. DOI: 10.1093/clinchem/hvae173.
O’Neill K, et al. Long-read sequencing of an advanced cancer cohort resolves rearrangements, unravels haplotypes, and reveals methylation landscapes. Cell Genomics. 2024;4(11):100674. DOI: 10.1016/j.xgen.2024.100674.