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Personalised medicine and population health: breast and ovarian cancer

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Abstract

It has been suggested that a personalised approach to cancer prevention and screening might lead to a new paradigm for cancer control. Various aspects include testing for high-penetrance cancer susceptibility genes and generating personal risks scores, based on panels of single nucleotide polymorphisms. These tests can categorize women into various groupings of risk for cancer prevention (surgery and chemoprevention) cancer screening and prevention of cancer recurrence. In this review, I investigate various claims and come to the conclusion that the approach may be beneficial for the occasional patient but is unlikely to have any impact on reducing the burden of cancer incidence and mortality as whole. Challenges include meeting a high uptake of the test in the population, developing an effective and acceptable intervention and the willingness of healthy women to follow health care provider recommendations. The review focuses on strategies to reduce mortality from breast and ovarian cancer but is potentially applicable to other cancer sites, such as colon, prostate, and endometrial.

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Acknowledgements

I thank Victoria Sopik for reviewing the manuscript before submission.

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Correspondence to Steven A. Narod.

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Narod, S.A. Personalised medicine and population health: breast and ovarian cancer. Hum Genet 137, 769–778 (2018). https://doi.org/10.1007/s00439-018-1944-6

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