Women worried about their familial breast cancer risk--a study on genetic advice in general practice

AIMS: To ascertain whether women who consulted their GP because theyperceived themselves as at increased risk of familial breast cancer wereindeed at increased risk, and to evaluate potential strategies forassessing genetic risk of breast cancer in general practice. METHODS:Sixty-seven out of 81 women who had consulted their GP for advice abouttheir possible increased risk of developing breast cancer due to breastcancer in the family were interviewed. Familial breast cancer risk wasassessed by a clinical geneticist. This assessment was compared with tworecent guidelines for referral for genetic counselling. RESULTS: More thanhalf (52%; n = 35) the women had a relative risk of two and over fordeveloping breast cancer, while another half of these 35 (25%; n = 17) hada relative risk of three and over. All the women (n = 17) with a relativerisk of three and over were identified by means of the two currentguidelines for referral for genetic counselling, while more than half ofthe women (61%; n = 11) with a relative risk between two and three wereidentified. CONCLUSIONS: More than half the women concerned about theirfamilial risk of breast cancer are indeed at increased risk of breastcancer. Current guidelines correctly identify women at high risk. However,doubts about the health gain and feasibility of referral warrant caution,and need further investigation.