RT Journal
A1 Halbert C, Lynch H, Lynch J, et al
T1 COlon cancer screening practices following genetic testing for hereditary nonpolyposis colon cancer (hnpcc) mutations
JF Archives of Internal Medicine
JO Archives of Internal Medicine
YR 2004
FD September 27
VO 164
IS 17
SP 1881
OP 1887
DO 10.1001/archinte.164.17.1881
UL http://dx.doi.org/10.1001/archinte.164.17.1881
AB Background 
    Although increased colonoscopic surveillance is recommended for hereditary nonpolyposis colon cancer (HNPCC) mutation carriers, limited information is available on adherence to colorectal cancer screening recommendations. This study investigated colonoscopy practices following genetic testing for HNPCC mutations.Methods 
    This prospective cohort study was conducted between May 22, 1996, and November 13, 1999. Participants were 98 men and women without a personal history of colon cancer or colectomy who were identified from 11 extended HNPCC families. Colonoscopy use was evaluated by telephone before genetic counseling and was reassessed 1, 6, and 12 months following test results disclosure.Results 
    During the 12 months following genetic counseling and testing, 73% (16/22) of HNPCC mutation carriers, 16% (8/49) of noncarriers, and 22% (6/27) of decliners reported having a colonoscopy (χ2 = 23.97, P<.001). After controlling for clinical factors and pretest screening practices, HNPCC mutation carriers were significantly more likely than test decliners to have a colonoscopy (odds ratio [OR], 12.12; 95% confidence interval [CI], 3.42-42.96; P<.001). There were no differences in colonoscopy use between noncarriers and decliners (OR, 0.60; 95% CI, 0.28-1.29; P = .19). Perceived control over developing colon cancer also had a significant effect on posttest colonoscopy use (OR, 2.19; 95% CI, 1.22-3.94; P = .01).Conclusions 
    Genetic testing may motivate increased colonoscopic screening among HNPCC mutation carriers. Increased efforts may be needed to assess patients' family histories of colon cancer and provide appropriate referrals for genetic counseling and testing to target colonoscopic screening to high-risk individuals.