Challenging gold standard hematology diagnostics through the introduction of whole genome sequencing and artificial intelligence

The diagnosis of hematological malignancies is rather complex and requires the application of a plethora of different assays, techniques and methodologies. Some of the methods, like cytomorphology, have been in use for decades, while other methods, such as next-generation sequencing or even whole genome sequencing (WGS), are relatively new. The application of the methods and the evaluation of the results require distinct skills and knowledge and place different demands on the practitioner. However, even with experienced hematologists, diagnostic ambiguity remains a regular occurrence and the comprehensive analysis of high-dimensional WGS data soon exceeds any human's capacity. Hence, in order to reduce inter-observer variability and to improve the timeliness and accuracy of diagnoses, machine learning based approaches have been developed to assist in the decision making process. Moreover, to achieve the goal of precision oncology, comprehensive genomic profiling is increasingly being incorporated into routine standard of care.