TY  - JOUR
T1  - GEnetic testing in families with
hereditary nonpolyposis colon cancer
AU  - Lerman C, Hughes C, Trock BJ, et al
Y1  - 1999/05/05
N1  - 10.1001/jama.281.17.1618
JO  - JAMA
SP  - 1618
EP  - 1622
VL  - 281
IS  - 17
N2  - Context 
                  Genetic testing for hereditary nonpolyposis colon
cancer (HNPCC) is available, but the rates of acceptance of testing or
barriers to participation are not known.Objective 
                  To investigate rates and predictors of
utilization of genetic testing 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 families 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 interview, 84 (60%) received test results and 55
(40%) declined. Of the 84 subjects who received test results, 35
(42%) received information indicating that they had HNPCC-associated
mutations and 49 (58%) that they did not. Test acceptors had higher
education levels (odds ratio [OR], 3.74; 95% confidence 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
presence 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 decrease 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 to 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 clinical settings and racially
diverse populations.
SN  - 0098-7484
M3  - doi: 10.1001/jama.281.17.1618
UR  - http://dx.doi.org/10.1001/jama.281.17.1618
ER  -