AimTo examine the relative cost-effectiveness of predictive genetic tests for familial breast and ovarian cancer provided by Genetic Services of Western Australia.MethodsThe relative cost-effectiveness was assessed using a decision analytic model.ResultsThe cost and outcomes of genetic testing was compared in first-degree relatives of known BRCA1/2 mutation-carriers who have a 50% risk of carrying the mutated gene (intervention group) to individuals with the same a priori risk but who do not undergo a genetic test (control subjects).Since genetic testing enables the restriction (...) of intensive surveillance to individuals with an identified BRCA1/2 gene mutation, net savings in the period observed (age 25-70) 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 breast cancer (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. The onset of ovarian cancer was delayed at a net cost of $1630 (3.5yrs) to $2509 (1.2years) for women with BRCA1/2 mutations.ConclusionsTesting allows targeted high-level surveillance for gene mutation carriers, which ensures the cost-effective use of resources and reduces cancer-related morbidity if clinical recommendations for intervention are adopted. (shrink)

AimTo explore new mothers' knowledge of newborn screening, and their attitudes towards issues surrounding sample retention and the potential for blood screening samples to be used for research.MethodsA self-administered mail survey was sent to women who gave birth in Perth, Western Australia during January 2005. A total of 600 women completed the survey.ResultsIt was found that women were aware of newborn screening, however desired further information in order to acquire a more comprehensive knowledge of the test. Further, women reported discomfort (...) with the long-term storage of cards, but they were supportive of using blood samples for medical research, contingent upon the samples being de-identified and parental consent provided.ConclusionsNew mothers need to be provided with comprehensive information about the newborn screening test at a time which is conducive for the assimilation of this information. In addition, whilst supporting health related research using newborn screening samples, new mothers are keen for ethical issues to be sufficiently addressed prior to samples being systematically stored for extended periods of time. (shrink)