Population-based screening in the era of genomics. [Per Med. 2012] - PubMed - NCBI

Population-based screening in the era of genomics. [Per Med. 2012] - PubMed - NCBI

Per Med. 2012 Jun;9(4):451-455.

Population-based screening in the era of genomics.

Pashayan N, Pharoah P.

Source

University College London, Centre of Applied Health Research, 1-19 Torrington Place, London WC1E 6BT.

Abstract

To date, risk profiles based on the known common susceptibility variants have limited value in predicting risk of disease but they could be used for risk stratification in prevention programmes at population level. We illustrate the potential utility of polygenic risk stratification using the case of population-based screening for prostate and breast cancer. We compared the number of individuals eligible for screening and the number of cases potentially detectable by screening in a population undergoing screening based on age alone with a population undergoing stratified screening based on age and polygenic risk profile. Stratified screening strategy based on age and genetic risk would potentially improve the efficiency of screening programmes and reduce their adverse consequences. Organisational, ethical, legal and social issues need to be addressed before stratified screening programmes could be implemented.

PMID:

22984365

[PubMed]

PMCID:

PMC3442228

Free PMC Article

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Figure 3

Reclassification

A. Eligibility to screening: Population of 100 men, 45-79 years, by age group and risk threshold (i), that would be eligible for screening based on age (ii) and based on age and polygenic risk (iii)
B. Potentially screen-detectable cases: Population of 100 men, 45-79 years, with prostate cancer by age group and risk threshold (i), that would be detectable by screening based on age (ii) and based on age and polygenic risk (iii)

Population-based screening in the era of genomics

Per Med. 2012 June;9(4):451-455.

Figure1

Age-based vs. stratified screening: Proportion of the population of men 45-79 years and of cases of prostate cancer occurring in this population, England 2002-2006
Screening based on age alone in men aged 55-79 (10-year absolute risk 2.0% or greater) vs. screening men aged 45-79 with 2.0% 10-year absolute risk that is age-and polygenic risk-dependent
Of men 45-79 years, 63% are aged 55 years or above and 53% are at 10-year absolute risk of 2% or greater. 3% of men 45-79 years are younger than 55 years but have 10-year absolute risk of 2% or greater. Of all prostate cancers detected in men 45-79 years, 96% are in men aged 55 years or above and 93% are at 10-year absolute risk of 2% or greater. 1% of the cancers are in men younger than 55 years but have 10-year absolute risk of 2% or greater.

Population-based screening in the era of genomics

Per Med. 2012 June;9(4):451-455.