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

Counseling and predictive testing are now available for the recently isolat ed BRCA1 and BRCA2 breast cancer susceptibility genes. We examined the soci etal casts of providing this counseling and testing to women at risk of hav ing a breast cancer susceptibility mutation. Genetic counselors in a resear ch program prospectively monitored the time necessary to provide counseling and results disclosure, A time motion study was used to determine time spe nt on phone calls, preparation, and documentation for counseling. Study par ticipants were surveyed to determine travel time and need for dependent car e during counseling. The test cost was calculated using the charge for full BRCA1/2 gene sequencing (Myriad Genetics, Inc.) multiplied by a Medicare-b ased cost-to-charge ratio. Counselors spent an average of 4.2 h providing g enetic counseling for women at risk of having a susceptibility mutation. Ge netic counseling without testing cost on average $213, whereas counseling, testing, and disclosure of results totaled $2057, A brief physician-based c ounseling instead of genetic counselor-based counseling would produce only small reductions in total costs. Providing counseling and testing to the st udy population averaged $8034 per mutation found. The cost of testing and c ounseling exceeded $2000, The counseling portion of the cost comprised only 16% of the total cost, with the remainder representing costs associated wi th testing; thus, alternatives to full genetic counseling that shorten coun seling time are unlikely to have a large impact on the overall cost of coun seling and testing. The cost of detecting a mutation within a population of women is highly dependent on the prevalence of the mutation in the populat ion.