Table 3

Cost of detecting a BRCA1 or BRCA2 mutation

PopulationMutation prevalence (%)ReferenceCost to detect mutation ($)
CAREa25.68,034
Breast cancer 21–44 yearsa7.2 (46) 28,565
Breast cancer, unselecteda2.6 (47) 79,104
United States populationa0.14 (48) 1,469,080
Ashkenazi Jews (founder mutations only)b2.4 (49) 23,357
Ashkenazi Jews (founder mutations + full gene sequencing)c2.4 (49) 82,002
  • a Average cost of testing and counseling for women in the population of interest necessary, on average, to have one positive test for a BRCA1 or a BRCA2 mutation, assuming the use of full gene sequencing, and that the test is the gold standard diagnosis of a mutation.

  • b Assuming testing for three founder mutations (185delAG, 5382insC, 6174delT) with no further evaluation if the tests are negative.

  • c Assuming testing for three founder mutations (185delAG, 5382insC, 6174delT) and testing those who test negative with full gene sequencing.