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Approved research

Development of Personalised Screening Models for Melanoma and Breast, Colorectal and Prostate Cancers.

Principal Investigator: Miss Berit Kolk
Approved Research ID: 53602
Approval date: October 30th 2019

Lay summary

Globally, cancer is one of the leading causes of death. Earlier diagnosis of cancer leads to more effective treatment and higher patient survival with less harmful and cheaper treatment. Public health systems, including Estonian Health Insurance Fund in Estonia, use population based screening programmes to identify early stage cancers. However, population-based screenings are currently only based on age, which ignores individual differences in risk caused by other internal and external factors. Consequently, people with higher risk are under-screened and people with lower risk are over-screened. In turn, this means that a lot of public money is wasted because of suboptimal screening efficiency. The main goal of Antegenes is to develop clinically applicable screening models that accurately target at risk individuals in public screening programmes. More precisely, we work towards developing and implementing a new method for more personalised screening programmes to identify people at increased risk based on their genotype. We are aiming to use include polygenic risk scores (PRSs) in comprehensive risk prediction models for more precise and personalised risk estimation. PRSs summarise genome-wide genotype data into a single variable that measures genetic liability to a disorder or a trait. Use of PRSs as a risk stratification tool in colorectal-, breast - and prostate cancers, has been shown to achieve a degree of risk discrimination that is useful for population-based screening programmes. For example, breast cancer is responsible for 16% of all female cancer deaths in the European Union. Therefore, reduction of cancer mortality is an important public health goal. Current age-based screening programmes ignore considerable genetic risk differences between women. Multiple studies have shown that PRSs are effective in successfully stratifying breast cancer patient risk but these have so far nowhere been implemented in clinical screening. Overall, in 8 months we expect to develop and validate the PRS models developed in UK Biobank resource in Estonian test data. This would show the extent of transferability between two European populations. Next, the PRS are incorporated in comprehensive screening models for breast, colorectal, prostate cancer and melanoma which suggests dynamic screening intervals for individuals based on individual risk. Targeting more at risk individuals can result in a higher rate of early detection and thus reduced mortality of common cancers.