A technology assessment report 1 on genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) was abstracted in the Health Technology Assessment Database 2. Genetic testing of HNPCC can reduce the number of surveillance colonoscopies and help target surveillance at high-risk patients. Studies of the effect of genetic testing of HNPCC on more substantial outcomes such as mortality are limited. Genetic testing requires pre- and post-test genetic counselling and written informed consent for both affected and at-risk individuals. Testing is not indicated for patients with sporadic colorectal cancer nor their family members, and not for mass screening of the general population. If germ-line mutation analysis indicates a deleterious mutation, genetic testing of at-risk family members can provide true positive and negative results. If no deleterious mutation is found in the affected person, genetic testing of at-risk family members will only provide inconclusive results.
Primary/Secondary Keywords