Cost-effectiveness of predictive genetic tests for familial breast and ovarian cancer

Aim: To examine the relative cost-effectiveness of predictive genetic tests for familialbreast and ovarian cancer provided by Genetic Services of Western Australia.Methods: The relative cost-effectiveness was assessed using a decision analyticmodel.Results: The cost and outcomes of genetic testing was compared in first-degreerelatives of known BRCA1/2 mutation-carriers who have a 50% risk of carrying themutated gene (intervention group) to individuals with the same a priori risk but whodo not undergo a genetic test (control subjects).Since genetic testing enables the restriction of intensive surveillance to individualswith an identified BRCA1/2 gene mutation, net savings in the period observed (age25-70) were $980-$1008 per woman in the ovarian intervention group and $1681-$1795 per woman in the breast intervention group, and delayed the onset of breastcancer (6mths BRCA1, 3mths BRCA2).Compared to control subjects undergoing population surveillance, it was estimated the onset of breast cancer could be delayed at a total net cost of $3055 (5.1yrs) to $3389(3.2yrs) for women in the breast intervention group with BRCA1/2 mutations. Since population surveillance is not currently recommended for ovarian cancer, control subjects undergoing no surveillance were compared with the intervention group. Theonset of ovarian cancer was delayed at a net cost of $1630 (3.5yrs) to $2509(1.2years) for women with BRCA1/2 mutations.Conclusions: Testing allows targeted high-level surveillance for gene mutation carriers, which ensures the cost-effective use of resources and reduces cancer-relatedmorbidity if clinical recommendations for intervention are adopted.