Applying genomics to tailor colorectal cancer screening in primary care


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Jon Emery1
1Centre for Cancer Research and Department of General Practice, University of Melbourne

Abstract

In the era of precision medicine it is increasingly recognised that a more tailored approach could be applied to cancer screening and early detection. In primary care, the assessment of cancer risk to determine who is most likely to benefit from invasive, expensive diagnostic tests can be applied both to symptomatic and asymptomatic populations.  There is large variation in individual lifetime risk of colorectal cancer due to differences in external factors (lifestyle and environment) and genetic susceptibility. Recent genome wide association studies have begun to identify multiple common single nucleotide polymorphisms (SNPs) which increase risk of colorectal cancer and could be used to stratify colorectal cancer screening. In this presentation I will present data on a 45 SNP panel for colorectal cancer risk prediction. This will include modelling its potential impact on colorectal cancer screening programs and recent implementation research to study issues of feasibility, acceptability and impact on patient and clinician decision-making in primary care. I will compare this approach with alternative methods of risk assessment based on electronic risk assessment tools currently being evaluated in the CRISP Trial.