Optimizing cancer care delivery through maximally informative molecular diagnostics
Transformation: maximally informative RNA-based diagnostics is expected to transform health care delivery through the provision of diagnostic, prognostic, predictive, and/or therapeutic information at the time of pathologic diagnosis.
Adoptability: we expect our advanced RNA-based methodological approaches to be adopted or modified by pathologists in large academic medical centers.
Outcomes: for proof-of-concept, we have identified clinically relevant small RNA molecules with the potential to guide the clinical management of neuroendocrine tumors. Our study will facilitate discussion on the role of genomic medicine (particulary RNA-based studies) in the planning of healthcare delivery.
Cancer is a leading cause of chronic illness and death in Canada. With nearly 75,000 new cases per year in Ontario, demand for high quality healthcare will remain substantial. Maximally informative molecular diagnostics is an emerging approach for planning patient care. Through comprehensive profiling of disease-related molecules in clinical samples, this approach enables pathologists to glean diagnostic, prognostic, predictive, and/or therapeutic information at the time of diagnosis. RNA molecules are of particular interest because they are exquisite markers of genomic activity. Among the multiple (17+) RNA biotypes encoded in the human genome, my proof-of-concept project focuses on microRNAs (miRNAs) – small RNA molecules that control gene expression and double as disease biomarkers due to their abundance and cell-type-specificity. To demonstrate the utility of our approach to healthcare providers, my team and I are designing a miRNA-based diagnostics platform to evaluate neuroendocrine tumors (NETs) – unpredictable tumors that urgently need biomarkers to inform clinical decision-making. My long-term research goal is to improve healthcare and impact healthcare delivery through maximally informative RNA-based diagnostics. The objectives of my current research are to (i) establish a miRNA-based diagnostics platform for evaluating NETs and (ii) edcuate potential end users and assess interest in incorporating this informative approach into cancer care. To date, we have identified clinically relevant miRNAs in NETs and are generating reagents for sequencing-based miRNA expression profiling and visualization in archived pathology samples. Once established, we will expand our approach to encompass all RNA biotypes with a view to providing proactive healthcare through comprehensive analyses of clinical samples..