Thesis abstract:

«p»Australia has one of the highest rates of cancer incidence in the world. In 2020, it was estimated that >68,000 (47% of all) new invasive cancers in Australia could be accounted for by the four most common cancers: breast, prostate, melanoma and colorectal cancer. These four cancers place a large strain on the Australian healthcare system, with yearly healthcare costs exceeding $2.6 billion annually and projected to increase substantially with the development of novel treatments for later-stage disease. In most cases, the early detection of cancer leads to more successful therapies, higher survival rates and reduced costs of care. Risk-tailored screening and early detection programs represent an opportunity to improve early detection by tailoring several components of screening programs based on an individual’s estimated risk of cancer or cancer death. For all four of the most common cancers in Australia, polygenic risk scores (PRS), also called polygenic scores or genomic risk scores, can be used to identify those at high risk. My PhD program aims to generate and validate cancer risk prediction tools tailored to the Australian population that integrate genomic information (e.g. PRS) with lifestyle, phenotypic, sociodemographic and linked health data. Data will be leveraged from several large-scale Australian cohorts including the 45 and Up Study, QSkin Study and Melbourne Collaborative Cohort Study, as well as a large international cohort for comparison (UK Biobank). The data will include genomic information obtained through different platforms, including novel low-pass whole genome sequencing. My PhD program will also assess the acceptability of genomics-informed risk-tailored screening in the Australian population and work towards ensuring healthcare professionals have the knowledge and resources to integrate genomics into patient care.«/p»