Context Genetic testing for hereditary nonpolyposis colon cancer (HNPCC) is
available, but the rates of acceptance of testing or barriers to participa
tion are not known.
Objective To investigate rates and predictors of utilization of genetic tes
ting for HNPCC.
Design Cohort study conducted between July 1996 and July 1998,
Setting Hereditary nonpolyposis colon cancer family registry,
Participants Adult male and female members (n = 208) of 4 extended HNPCC fa
milies contacted for a baseline telephone interview.
Interventions Family education and individual genetic counseling.
Main Outcome Measure Participant acceptance of HNPCC test results.
Results Of the 208 family members, 90 (43%) received test results and 118 (
57%) declined. Of 139 subjects (67%) who completed a baseline telephone int
erview, 84 (60%) received test results and 55 (40%) declined. Of the 84 sub
jects who received test results, 35 (42%) received information indicating t
hat they had HNPCC-associated mutations and 49 (58%) that they did not. Tes
t acceptors had higher education levels (odds ratio [OR], 3.74; 95% confide
nce interval [CI], 2.49-5.61) and were more likely to have participated in
a previous genetic linkage study (OR, 4.30; 95% CI, 1.84-10.10). The presen
ce of depression symptoms significantly reduced rates of HNPCC test use (OR
, 0.34; 95% CI, 0.17-0.66). Although rates of test use were identical among
men and women, the presence of depression symptoms resulted in a 4-fold de
crease in test use among women (OR, 0.25; 95% CI, 0.08-0.80) and a smaller,
nonsignificant reduction among men (OR, 0.49; 95% CI, 0.19-1.27).
Conclusions Despite having significantly elevated risks of developing colon
cancer, a relatively small proportion of HNPCC family members are likely t
o use genetic testing. Barriers to test acceptance may include less formal
education and the presence of depression symptoms, especially among women.
Additional research is needed to generalize these findings to different cli
nical settings and racially diverse populations.