Stratified Cancer Screening: The Practicalities of Implementation

PHG Foundation, Cambridge, UK.
Public Health Genomics (Impact Factor: 2.21). 01/2013; 16(3). DOI: 10.1159/000345941
Source: PubMed

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.

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.

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.

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Available from: Nora Pashayan, Feb 09, 2015
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    • "This means that risk-stratified screening could result in fewer screening episodes whilst largely maintaining early cancer detection rates and helping to mitigate the harms associated with screening programmes such as overdiagnosis and unnecessary treatment.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. "
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    ABSTRACT: The identification of common genetic variants associated with common cancers including breast, prostate and ovarian cancers would allow population stratification by genotype to effectively target screening and treatment. As scientific, clinical and economic evidence mounts there will be increasing pressure for risk-stratified screening programmes to be implemented. This paper reviews some of the main ethical, legal and social issues (ELSI) raised by the introduction of genotyping into risk-stratified screening programmes, in terms of Beauchamp and Childress's four principles of biomedical ethics-respect for autonomy, non-maleficence, beneficence and justice. Two alternative approaches to data collection, storage, communication and consent are used to exemplify the ELSI issues that are likely to be raised. Ultimately, the provision of risk-stratified screening using genotyping raises fundamental questions about respective roles of individuals, healthcare providers and the state in organizing or mandating such programmes, and the principles, which underpin their provision, particularly the requirement for distributive justice. The scope and breadth of these issues suggest that ELSI relating to risk-stratified screening will become increasingly important for policy-makers, healthcare professionals and a wide diversity of stakeholders.
    Journal of Public Health 08/2013; 36(2). DOI:10.1093/pubmed/fdt078 · 2.04 Impact Factor
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    ABSTRACT: Study purpose: A population-based risk stratification programme for ovarian cancer (OC) may improve OC survival by identifying women at increased risk and implementing an appropriate risk management strategy. The present study explored attitudes towards an OC risk stratification programme incorporating predictive genetic testing and risk-stratified screening as part of a larger study investigating OC screening. Methods: Focus groups consisting of 56 members of the general public (mean age 45 years; 34% non-white) were conducted using a hypothetical scenario. The group sessions were recorded, transcribed verbatim and analysed using Framework Analysis. Results: There was strong support for the proposed programme. Genetic testing and risk-stratified screening was thought to raise awareness, offer reassurance and offer opportunities for early intervention. Anxiety was only mentioned in relation to receiving a diagnosis of OC and not with screening per se. Perhaps because lay models of cancer already embrace both environmental and genetic factors, a low-risk result was not anticipated to result in a false sense of immunity. Unexpectedly, participants also wanted to receive cancer prevention advice in conjunction with genetic testing; screening alone was not regarded as sufficient. Conclusion: The encouraging results from this small study warrant further large-scale research into risk-stratified OC screening.
    Public Health Genomics 07/2013; 16(4). DOI:10.1159/000352028 · 2.21 Impact Factor
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    ABSTRACT: Polygenic profiling and risk stratification for population-based screening for cancer improve the efficiency of the screening programs. Translation of genomics into personalized screening programs requires evidence from empirical research on the balance of benefits and harms of personalized screening, and engagement with the public, professionals and policy makers.
    Personalized Medicine 08/2013; 10(6). DOI:10.2217/pme.13.46 · 1.34 Impact Factor
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