Grant: Doctoral Research Award: Canada Graduate Scholarships

In recent years, the significance of genetic information in the diagnosis, screening, and treatment of myeloid (blood) cancers has become highly evident. The increasing impact of identifying genes associated with these cancers necessitates more comprehensive screening techniques. Targeted next-generation sequencing (NGS) is a tool that permits the identification of many genes in one efficient test that can be applied for patients using blood or bone marrow. NGS works by assessing a patient's DNA (obtained from these blood or bone marrow samples) to determine whether there are any variations in the sequence (mutations) that may be contributing to their disease. Targeted NGS refers specifically to the assessment of a group of genes known to play a role in blood cancers. NGS allows the simultaneous assessment of many genes in a single, efficient, comprehensive test. The results of this test (showing whether there is variation in a patient's DNA) can inform clinicians about this patient's disease based on current research surrounding affected genes. This tool will not only complement current techniques but may in fact replace them. We performed sequencing of DNA from patient samples using the Thermo Fisher Ion Chef and Ion S5 sequencer. We analyzed the sequencing results and classified variants (changes in genes/DNA) based on their potential to impact patient care. To date, we have performed sequencing of 187 samples from 168 unique patients with a variety of myeloid cancers. Of the variants (abnormalities) detected, 77% were potentially actionable (impacted patient care). In the majority of patients, we were able to identify variants that may aid clinicians in achieving/clarifying diagnoses, informing follow-up/prognosis, and guiding treatment decisions. Our findings highlight the importance of integrating NGS into clinical testing for patients with myeloid cancers.