There may be little benefit in providing specialist genetics services to all women with a family history of breast cancer. Further investigation of factors that may mediate the impact of genetic assessment is in progress and may reveal subgroups of women who would benefit from specialist genetics services.

The aim was to compare the psychological impact of a multidisciplinary specialist genetics service with surgical provision in women at high risk and those at lower risk of familial breast cancer. Women (n=735) were randomized to a surgical consultation with (trial group) or without (control group) specialist genetic risk assessment and the possible offer of presymptomatic genetic testing. Participants completed questionnaires before and immediately after the consultation to assess anxiety, cancer worry, perceived risk, interest in genetic testing and satisfaction. Responses of subgroups of women stratified by clinicians as low, moderate, or high risk were analyzed. There were no significant main effects of study intervention on any outcome variable. Regardless of risk information, there was a statistically significant reduction in state anxiety (P50.001). Reductions in cancer worry and perceived risk were significant for women at low or moderate risk (P50.001) but not those at high risk, and satisfaction was significantly lower in the high risk group (P50.001). In high risk women who received specialist genetic input, there was a marginally significant trend towards increased perceived risk. The effect of risk information on interest in genetic testing was not significant. Breast care specialists other than geneticists might provide assessments of breast cancer risk, reassuring women at reduced risk and targeting those at high risk for specialist genetic counselling and testing services. These findings are discussed in relation to the existing UK Calman-Hine model of service delivery in cancer genetics.

Randomised controlled trials allow comparisons to be made between diVerent models of service delivery, but have not been used in the field of clinical genetics. With the advent of clinical governance, the evidence provided by such trials will be increasingly important in informing and shaping clinical genetics practice. The TRACE project (Trial of genetic assessment in breast cancer) is a randomised controlled trial of genetic assessment for women who are at increased risk of breast cancer because of their family history. The absence of cancer genetics service provision in Wales before this study gave a window of opportunity in which this important trial could be conducted. The present paper describes how TRACE will provide crucial evidence regarding the psychosocial as well as resource implications of adding individualised genetic assessment, genetic counselling, and (where appropriate) gene testing to typical advice and surveillance from a hospital breast clinic. In addition, it is anticipated that TRACE will represent a model for future trials of service delivery in the increasing number of complex genetic disorders where evidence on the economic implications of screening and management is currently limited. (J Med Genet 2000;37:192-196) Keywords: genetic assessment; family history; breast cancer Breast cancer is the commonest cancer in women in the UK. The incidence is among the highest in the world with approximately 30 000 new cases presenting each year. Although most breast cancer arises in women over the age of 50, it is still the most common cause of death in women between the ages of 40 and 50 years. There are a number of risk factors currently known 1 and others under investigation. The most relevant risk factor in the present study is that of family history, long recognised to confer an increased risk.2 Up to 10% of breast cancer may be the result of a genetic predisposition. One of the genes (BRCA1) predisposing to breast (and ovarian) cancer was initially mapped to the long arm of chromosome 17 in 1990 5 and cloned in 1994. 6 In a collaborative approach, the Breast Cancer Linkage Consortium (BCLC) 7 showed that BRCA1 mutations underlie approximately 50% of families with a clear dominant breast cancer predisposition and over 80% of those families in which both breast and ovarian cancer are present. A proportion of the remaining dominant families can be accounted for by the second breast cancer predisposing gene, BRCA2 on chromosome 13q12-13, cloned in 1995. 8 The BCLC used BRCA1 linked families to estimate that the incidence of breast cancer in BRCA1 mutation carriers is 51% by the age of 50 and 85% by the age of 70 years. The risk of ovarian cancer was estimated at 63% by the age of 70 years. There is some evidence of increased risk of colon cancer in BRCA1 carriers of both sexes and prostate cancer in male carriers.Genetic testing of aVected women has been limited by the complexity of analysing a large gene with numerous unique mutations. Recently, however, the Ashkenazi Jewish populati...

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