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Chanita Hughes Halbert, PhD; Henry Lynch, MD; Jane Lynch, BSN; David Main, MS; Susan Kucharski, BS; Anil K. Rustgi, MD; Caryn Lerman, PhD

Arch Intern Med. 2004;164:1881-1887.

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 (² = 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.

From the Abramson Cancer Center, Department of Psychiatry, and Annenberg Public Policy Center (Drs Halbert and Lerman and Ms Kucharski), and Department of Gastroenterology (Dr Rustgi), University of Pennsylvania, Philadelphia; Department of Preventive Medicine and Public Health, Creighton University, Omaha, Neb (Dr Lynch and Ms Lynch); and DP Clinical Associates, Rockville, Md (Mr Main). Dr Halbert is now with the University of Pennsylvania. The authors have no relevant financial interest in this article.

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