Advances in next-generation sequencing and emerging technologies for haematologic malignancies

Abstract

Innovations in molecular diagnostics have often evolved through the study of haematologic malignancies. Examples include the pioneering characterization of the Philadelphia chromosome by cytogenetics in the 1970s, the implementation of PCR for high-sensitivity detection and monitoring of mutations, and, most recent, targeted next-generation sequencing (NGS) to drive the prognostic and therapeutic assessment of leukaemia. Haematologists and haematopathologists continue to advance with new innovations in the past decade by improving the type, amount, and quality of data generated for each molecule of nucleic acid. In this review article, we will touch on these new developments and discuss their implications for diagnostics in haematopoietic malignancies. We will review advances in sequencing platforms and library preparation chemistry that can lead to faster turnaround times; novel sequencing techniques; the development of mobile labs with implications for worldwide benefits; the current status of sample types; improvements to quality and reference materials; bioinformatic pipelines; and the integration of machine learning and artificial intelligence into molecular diagnostic tools for haematologic malignancies.