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Table 13. Predictors Associated with Uptake of Genetic Testing (GT)

Study Citation Study Population Sample Size (N) Uptake of GT Predictors Associated With Uptake of GT Comments 
Schwartz et al. (2005) [12]Newly diagnosed and locally untreated breast cancer patients with ≥10% risk of having a BRCA1/2 mutationa231177/231 (77%) underwent GTHaving decided on definitive local treatment. Women who were undecided on a definitive local treatment were more likely to be tested.Testing was offered free of charge.
34/231 (15%) had baseline interview but declined GT
Physician recommendation for testing. Women whose physician had recommended GT were more likely to be tested.38/177 chose to proceed with treatment before receiving test results.
20/231 declined baseline interview
Kieran et al. (2007) [13]Women who received GC between 2002 and 2004a25088/250 (35%) underwent GTAbility to pay for GT (entire cost or cost not covered by insurance). Nonuptake was 5.5 times more likely in women who could not afford testing.450 women received GC for breast and ovarian cancer risk during study period. 250 women were retrospectively identified as eligible and were mailed a study questionnaire.
36/88 returned surveys
Ability to recall risk estimates that were provided post-GC. Nonuptake was 15.5 times more likely in women who could not recall their risk estimates.All women had some form of insurance.
162/250 (65%) eligible
65/162 returned surveys
Susswein et al. (2008) [14]African American women and white women with breast cancerb768529/768 (69%) underwent GTRace/ethnicity. African American women were less likely to be tested than were white women.Sample obtained from a clinical database. Testing was offered free of charge when it was not covered by insurance. This effect for time of diagnosis was significant in the African American, but not white, subgroup.
African American women: 77/132 (58%) underwent GT
Recent diagnosis. African American women who were recently diagnosed were more likely to be tested.
White women: 452/636 (71%) underwent GT
Olaya et al. (2009) [15]Patients referred for GT between 2001 and 2008b213111/213 (52%) underwent GTPersonal history of breast cancer. Having a personal history was associated with 3 times greater odds of being tested.Insurance coverage for testing was available for 91.1% (175/213) of patients. Of those who had coverage for GT, 51.4% underwent testing and 48.6% did not. Of those without coverage, 41.2% had GT and 58.9% did not.
102/213 (48%) declined GTHigher level of education. Those with a high school education or less had one-third the odds of being tested, compared with those with at least some college.
Levy et al. (2010) [16]Women aged 20–40 y with newly diagnosed early-onset breast cancer.b1,474446/1,474 (30%) underwent GTRace/ethnicity. Women of Jewish ethnicity were 3 times more likely to be tested than were non-Jewish white women. African American and Hispanic women were significantly less likely to receive testing than were non-Jewish white women.Sample obtained from a national database of commercially insured individuals.
Jewish women: 18/32 (56%) underwent GTHome location. Women living in the south were more likely to be tested than were women living in the northeast.
African American women: 10/82 (12%) underwent GTInsurance type. Women with point-of-service plans were more likely to be tested than were women with HMO plans.
Recent diagnosis. Women diagnosed in 2007 were 3.8 times more likely to be tested than were women diagnosed in 2004.

GC = genetic counseling; HMO = health maintenance organization.
aSelf-report as data source.
bMedical records as data source.


  1. Schwartz MD, Lerman C, Brogan B, et al.: Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomarkers Prev 14 (4): 1003-7, 2005.  [PUBMED Abstract]

  2. Kieran S, Loescher LJ, Lim KH: The role of financial factors in acceptance of clinical BRCA genetic testing. Genet Test 11 (1): 101-10, 2007.  [PUBMED Abstract]

  3. Susswein LR, Skrzynia C, Lange LA, et al.: Increased uptake of BRCA1/2 genetic testing among African American women with a recent diagnosis of breast cancer. J Clin Oncol 26 (1): 32-6, 2008.  [PUBMED Abstract]

  4. Olaya W, Esquivel P, Wong JH, et al.: Disparities in BRCA testing: when insurance coverage is not a barrier. Am J Surg 198 (4): 562-5, 2009.  [PUBMED Abstract]

  5. Levy DE, Byfield SD, Comstock CB, et al.: Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk. Genet Med 13 (4): 349-55, 2011.  [PUBMED Abstract]