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Cancer Epidemiol Biomarkers Prev. 2001 May;10(5):475-81.

Cost of genetic counseling and testing for BRCA1 and BRCA2 breast cancer susceptibility mutations.

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Cancer Clinical and Economic Outcomes Division of Cancer Prevention and Control, Lombardi Cancer Center, Georgetown University, Washington, DC. 20007, USA.


Counseling and predictive testing are now available for the recently isolated BRCA1 and BRCA2 breast cancer susceptibility genes. We examined the societal costs of providing this counseling and testing to women at risk of having a breast cancer susceptibility mutation. Genetic counselors in a research program prospectively monitored the time necessary to provide counseling and results disclosure. A time-motion study was used to determine time spent on phone calls, preparation, and documentation for counseling. Study participants were surveyed to determine travel time and need for dependent care during counseling. The test cost was calculated using the charge for full BRCA1/2 gene sequencing (Myriad Genetics, Inc.) multiplied by a Medicare-based cost-to-charge ratio. Counselors spent an average of 4.2 h providing genetic counseling for women at risk of having a susceptibility mutation. Genetic counseling without testing cost on average $213, whereas counseling, testing, and disclosure of results totaled $2057. A brief physician-based counseling instead of genetic counselor-based counseling would produce only small reductions in total costs. Providing counseling and testing to the study population averaged $8034 per mutation found. The cost of testing and counseling exceeded $2000. The counseling portion of the cost comprised only 16% of the total cost, with the remainder representing costs associated with testing; thus, alternatives to full genetic counseling that shorten counseling time are unlikely to have a large impact on the overall cost of counseling and testing. The cost of detecting a mutation within a population of women is highly dependent on the prevalence of the mutation in the population.

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