Stratified Cancer Screening: The Practicalities of Implementation

Abstract

Background: Improving understanding of the genetic basis of disease susceptibility enables us to estimate individuals' risk of developing cancer and offer them disease prevention, including screening, stratified to reflect that risk. Little attention has so far been given to the implementation of stratified screening. This article reviews the issues that would arise in delivering such tailored approaches to prevention in practice. Results: Issues analysed include the organisational context within which implementation of stratified prevention would occur, how the offer of screening would be made, making sure consent is adequately informed, how individuals' risk would be assessed, the age at which risk estimation should occur, and the potential use of genetic data for other purposes. The review also considers how management might differ depending on individuals' risk, how their results would be communicated and their follow-up arranged, and the different issues raised by modification of an existing screening programme, such as that for breast cancer, and the establishment of a new one, for example for prostate cancer. Conclusion: Stratified screening based on genetic testing is a radically new approach to prevention. Various organisational issues would need to be considered before it could be introduced, and a number of questions require further research.

Population-Based, Risk-Stratified Genetic Testing for Ovarian Cancer Risk: A Focus Group Study

“…Although practical barriers to implementation would have to be overcome [16], the findings of this qualitative study suggest that women would welcome the opportunity of genetic testing and subsequent risk-stratified screening for OC. They did not anticipate adverse psychological effects in response to the personal genetic test result, although a ‘higher risk' result was often described as a ‘wake-up call' for taking preventive action.…”

“…One barrier to implementation of population-based genetic testing for OC risk is the concern about adverse psychological reactions [15,16]. Evidence from studies using BRCA1/2 testing shows that in the majority of studies, genetic test feedback was perceived as positive in carriers and non-carriers alike, and negative psychological outcomes tended to be short-lived [17,18,19,20].…”

Population-based genetic risk prediction and stratification for ovarian cancer: views from women at high risk

“…There is potential to use this knowledge to classify individuals by their genetic risk for a particular disease [8]. This risk stratification approach could be applied to cancer screening.…”

Implementing risk-stratified screening for common cancers: a review of potential ethical, legal and social issues

“…6,8 Applying risk assessment using low-penetrance susceptibility variants to individuals within an entire population would allow the systematic designation of different strata or risk groups, each with different packages of care. 9 For example, those at lowest risk might forgo screening altogether, thereby avoiding the associated risks of the screening procedures, whilst those at highest risk might commence screening earlier and stop later—and be offered interventions such as X-ray mammography at shorter inter-screening intervals during the screening period.…”