NGS-Based Diagnostics in Hematopathology: Strategies for Implementation in a Clinical Environment

The advent of next generation sequencing (NGS) has dramatically impacted the practice of hematopathology and the role of the clinical laboratory in information management and reporting. While the ability to simultaneously interrogate multiple gene loci for copy number, single nucleotide and large structural variations from one platform affords detailed examination of the genomes of hematologic malignancies, the integration of pre-analytical and technical workflows in genomic diagnostics and bioinformatics to ensure a seamless transmission of clinically relevant information offers opportunities for enhancement. In this session, a review of the parameters to be considered encompassing target selection, assay design, validation and performance specification test implementation will be covered. Considerations for options for reporting of clinical laboratory results to clinicians and oncologists to facilitate delivery of precision medicine will be examined.