Worldwide efforts to catalogue mutations in multiple cancer types (including haematological neoplasms) has led to new discoveries that are rapidly being translated into clinical practice. In particular, molecular markers are being applied to disease diagnosis & classification; prognostic stratification; informing therapeutic targets; and individualised monitoring of treatment efficacy and minimal residual disease. The Sanger DNA sequencing methodology has dominated these investigations for two decades and has led to numerous monumental accomplishments. However the need for new and improved sequencing technologies to produce faster, more cost-effective and accurate genomic information is now driving the new era of high-throughput genomic analysis technology of “next generation sequencing”.
Next generation sequencing platforms and chemistries are rapidly maturing to the point where this technology is being seriously considered by molecular laboratories for introduction into routine diagnostic use. This transition heralds fundamental changes in the way that sequencing data is generated and applied to care of patients with haematological malignancies.
This presentation will discuss the journey our Molecular Haematology laboratory has taken to implement next generation sequencing, including assay & bioinformatics development, optimisation, validation and accreditation. It will highlight the problems encountered along the way and the challenges remaining to transitioning this new technology into clinical practice to inform real-time decision making.