Polygenic susceptibility to prostate and breast cancer: implications for personalised screening.

Pashayan N, Duffy SW, Chowdhury S, Dent T, Burton H, Neal DE, Easton DF, Eeles R, Pharoah P.

Source

Department of Public Health and Primary Care, Institute of Public Health, University of Cambridge, University Forvie Site, Robinson way, Cambridge CB2 0SR, UK. np275@medschl.cam.ac.uk

Abstract

BACKGROUND:

We modelled the efficiency of a personalised approach to screening for prostate and breast cancer based on age and polygenic risk-profile compared with the standard approach based on age alone.

METHODS:

We compared the number of cases potentially detectable by screening in a population undergoing personalised screening with a population undergoing screening based on age alone. Polygenic disease risk was assumed to have a log-normal relative risk distribution predicted for the currently known prostate or breast cancer susceptibility variants (N=31 and N=18, respectively).

RESULTS:

Compared with screening men based on age alone (aged 55-79: 10-year absolute risk ≥2%), personalised screening of men age 45-79 at the same risk threshold would result in 16% fewer men being eligible for screening at a cost of 3% fewer screen-detectable cases, but with added benefit of detecting additional cases in younger men at high risk. Similarly, compared with screening women based on age alone (aged 47-79: 10-year absolute risk ≥2.5%), personalised screening of women age 35-79 at the same risk threshold would result in 24% fewer women being eligible for screening at a cost of 14% fewer screen-detectable cases.

CONCLUSION:

Personalised screening approach could improve the efficiency of screening programmes. This has potential implications on informing public health policy on cancer screening.