The introduction of genetic and genomic risk models to target screening for major diseases is nearing reality. However further scrutiny of the effectiveness of stratifying populations according to risk and how to deliver risk stratification in health services is crucial if the NHS, and patients, are to maximise the benefits.
The new PHG Foundation report, Stratified Screening for Cancer, sets out our recommendations on the urgent actions required ahead of any decision on implementation. We argue that current evidence is not yet clear as to how far risk stratified screening can achieve high rates of diagnosis and effective early treatment, while sparing lower risk, disease-free people from the harms and inconvenience of screening. The cost effectiveness of implementation, the success of which is likely to depend on significant adaptation of IT systems, professional education and public awareness campaigns, must also be clarified.
Stratified Screening for Cancer is the result of four years’ work as part of the European Commission funded Collaborative Oncological Gene-Environment Study (COGS), which focused on screening programmes for breast, ovarian and prostate cancers. In April 2013, the results from the study and a commentary from the PHG Foundation on the public health implications and potential for risk stratification and screening, were published in a Nature Genetics special
Our recommendations address five areas of relevant activity
1. Effectiveness of risk-stratified screening
3. Ethical, legal and social issues
4. Professional education and training
5. Public understanding and acceptability
Using genomic information to improve targeting is attractive in principle and, we believe, will be feasible before long. Preparing now for a future where genetic and genomic risk stratification is an effective and accepted part of routine healthcare provision is essential.
Stratified Screening for Cancer is available to download free here