Public health implications from COGS and potential for risk stratification and screening

Nature Genetics

45,

349–351

(2013)

doi:10.1038/ng.2582

Published online: 27 March 2013

Abstract

The PHG Foundation led a multidisciplinary program, which used results from COGS research identifying genetic variants associated with breast, ovarian and prostate cancers to model risk-stratified prevention for breast and prostate cancers. Implementing such strategies would require attention to the use and storage of genetic information, the development of risk assessment tools, new protocols for consent and programs of professional education and public engagement.

The research articles by the multicenter Collaborative Oncological Gene-environment Study (COGS) published in this special collection in Nature Genetics¹ are the output of a massive international scientific collaboration aimed at dissecting the genetic factors underlying susceptibility to three common hormone-related cancers—breast, ovarian and prostate cancers. The strength of the studies for all 3 cancers was the large-scale collaboration that was achieved, including over 130 institutions for the primary breast cancer association study², over 100 for ovarian cancer³ and 70 for prostate cancer⁴. This large collaboration and combined resources provided the ability to pool large quantities of collected genetic association data sets and prospectively coordinate research.
How can these studies be interpreted for their potential public health impact? Alongside the scientific work, the COGS program included an implementation work package (WP7) led by the Foundation for Genomics and Population Health (PHG Foundation) in Cambridge. This multidisciplinary public health–orientated group focused on how emerging findings of associations with these three hormone-related cancers could enhance disease prevention by enabling the stratification of risk and the fine-tuning of current screening programs according to risk. Self-evidently, this relies on having effective preventive interventions for these cancers. WP7 focused on secondary prevention of breast and prostate cancers by provision of a screening test that identifies early cancers and thereby reduces mortality and morbidity. The evidence for the benefits of mammography in breast cancer detection and of prostate-specific antigen (PSA) testing in prostate cancer detection is not without controversy, and there is currently no screening test for ovarian cancer. From a public health perspective, it would also be highly desirable to devise proven and acceptable primary prevention strategies aimed at reducing the risk of disease; in breast cancer, for example, all women should receive general preventive advice related to alcohol intake, exercise and obesity. Under a risk-stratified program, behavioral interventions might be more intense for those at higher risk, and other measures such as chemoprophylaxis might also be offered.