Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality.

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Abstract

Given that colorectal cancer risk depends partly on inherited factors, screening program efficiency may be increased by incorporating genetic factors. We compared the efficiency of screening based on age and genetic risk in a simulated population. We simulated a population matching the size, age distribution and colorectal cancer incidence and mortality of Australia. We also simulated the distribution of genetic risk for colorectal cancer based on the expected number of inherited risk alleles of 45 single-nucleotide polymorphisms (SNPs) previously reported as associated with colorectal cancer. We compared the expected colorectal cancer deaths under three screening programs; age-based, genetic-based and combined age-based and genetic-based. The age-based program would prevent 25.4 deaths per 100 000 invited to screen, none of which would be under age 50; the genetic program would prevent 26.2 deaths per 100 000 invited to screen, 16 of which would be under age 50; and the combined program would prevent 24.4 deaths per 100 000 invited to screen, 16 of which would be under age 50. Genetic testing of 1.5 million 45-49 year olds would identify 91% of the people aged under 50 at sufficient risk to warrant screening, potentially saving 16 colorectal cancer deaths each year. Screening eligibility based on genetic risk profile for age is as efficient as eligibility based on age alone for preventing colorectal cancer mortality, but identifies an additional 7% of the population at sufficient risk to benefit from screening who would not normally be screened given they are aged under 50 years.European Journal of Human Genetics advance online publication, 10 May 2017; doi:10.1038/ejhg.2017.60.