The assessment of genetic risk of breast cancer: a set of GP guidelines

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Abstract
Background. Assessing a genetic risk for developing breast cancer is not an easy task for a GP. Current expert guidelines for referring and counselling women with a family history positive for breast cancer are complex and difficult to apply in general practice, and have only two strategies (to refer or not to refer for genetic counselling), giving no guidance for the GP on the management of women with a moderately increased risk of familial breast cancer. Objectives. We aimed to develop a set of simple practical guidelines for use in primary care for assessing risk and advising women with a positive family history in general practice and aimed to explore its performance. Methods. Based on a consensus meeting of the Leiden working party of hereditary tumours, the GPs of a university-related health care centre developed a set of GP guidelines to assess risk and advise women with a family history positive for breast cancer in general practice. The GP guidelines include four therapeutic strategies (reassuring, starting surveillance, starting surveillance and contacting a family cancer clinic, referring to a family cancer clinic). Its performance was tested in 67 patients whose pedigrees were available together with the risk assessment of a clinical geneticist using Claus’ tables as a gold standard. The gold standard was dichotomized regarding (i) referral to a family cancer clinic and (ii) surveillance. Two existing expert guidelines were similarly compared. Results. Regarding referral to a family cancer clinic, the GP guidelines were very specific, whereas the expert guidelines were more sensitive. Regarding surveillance, the GP guidelines were very sensitive, whereas the expert guidelines were very specific. The total number of misclassified patients was lowest when using the GP guidelines, and higher when using the expert guidelines. Conclusions. The GP guidelines provide a simplification of current guidelines. Before using them on a larger scale, more testing and refining are needed to increase their sensitivity regarding a referral to a family cancer clinic and their specificity regarding surveillance. They incorporate a role for the GP in the care for women with a family history positive for breast cancer with a moderately increased risk.