Incorporating genomics into breast and prostate cancer screening: assessing the implications

Abstract

Individual risk prediction and stratification based on polygenic profiling may be useful in disease prevention. Risk-stratified population screening based on multiple factors including a polygenic risk profile has the potential to be more efficient than age-stratified screening. In this article, we summarize the implications of personalized screening for breast and prostate cancers. We report the opinions of multidisciplinary international experts who have explored the scientific, ethical, and logistical aspects of stratified screening. We have identified (i) the need to recognize the benefits and harms of personalized screening as compared with existing screening methods, (ii) that the use of genetic data highlights complex ethical issues including discrimination against high-risk individuals by insurers and employers and patient autonomy in relation to genetic testing of minors, (iii) the need for transparency and clear communication about risk scores, about harms and benefits, and about reasons for inclusion and exclusion from the risk-based screening process, and (iv) the need to develop new professional competences and to assess cost-effectiveness and acceptability of stratified screening programs before implementation. We conclude that health professionals and stakeholders need to consider the implications of incorporating genetic information in intervention strategies for health-care planning in the future.Genet Med 2013:15(6):423–432

Primary care providers’ cancer genetic testing-related knowledge, attitudes, and communication behaviors: A systematic review and research agenda

“…Genetic testing for cancer susceptibility may have utility for risk stratification, thereby allowing for a more focused application of screening tests to those at greatest disease risk. [13][14][15][16] For example, estimating an individual's cancer risk based on genetic markers and traditional risk factors may lead to a more refined use of currently recommended screening tests (e.g., mammography). 17,18 Information derived from genetic testing could also shift the balance of harms and benefits for some individuals such that screening tests like the PSA test, which is not recommended for the general population, may have utility in those with greatest genetic risk for prostate cancer.…”

“…We limited the review to genetic testing related to breast, colorectal, and prostate cancer because these represent cancers of high incidence and mortality, 27 and for which genetic information may be particularly useful in risk-stratification decisions for the frequency and/or modality of screening tests. [13][14][15]28 …”

Ethical, Legal, and Regulatory Issues for the Implementation of Omics-Based Risk Prediction of Women’s Cancer: Points to Consider

“…Risk prediction allows classification of individuals into risk groups (e.g., high risk, intermediate risk), leading to the potential for discrimination of individuals in such groups, and possibly also for their biological family members [13]. For instance, insurance companies could use results on cancer risk as a basis for setting higher premiums [13].…”

“…Risk prediction allows classification of individuals into risk groups (e.g., high risk, intermediate risk), leading to the potential for discrimination of individuals in such groups, and possibly also for their biological family members [13]. For instance, insurance companies could use results on cancer risk as a basis for setting higher premiums [13]. Having anti-discrimination legislation in place, or other means of adequate protection (e.g., restricting access and use of results by insurers [14,15]), can help protect individuals [16].…”

Genomics and Public Health

“…Concerning secondary prevention, there may be scope to refine existing screening programmes by the incorporation of genomic information, though so far success in the search for effective strategies using polygenic inheritance data has been limited [10]. Evans and colleagues have recently proposed, however, some ways in which the potential of PHG might be realized [17].…”