Decoding the genetics in haematology – from methods to applications

Genetics play a significant role in many haematological disorders, both malignant and otherwise. Many such disorders have been well characterised at the genomic level as a result of research-driven discoveries of disease-causing variants. In addition to disease diagnostics, modern-day clinical molecular genetics span from predictive genomic testing to personalised treatment strategies and post-treatment monitoring. Coupled with the growth of applications are the development in genetic testing technologies, with ever-dropping sequencing costs that has brought gene panels and whole exome or genome sequencing to the standard clinical practice. However, despite the rapid advances in technology, there is still an important place in the clinic, even for the most basic PCR tests from the distant past. With the inherent advantages and limitations of each technology, applying the correct method to the correct test is important not only in the clinical and scientific perspective but also in the economies of healthcare. This article outlines the various genetic techniques and their current and potential future applications in haematology.