Cost comparison of predictive genetic testing versus conventional clinicalscreening for familial adenomatous polyposis

Background-Mutations of the APC gene cause familial adenomatous polyposis ( FAP), a hereditary colorectal cancer predisposition syndrome. Aims-To conduct a cost comparison analysis of predictive genetic testing ve rsus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer. Methods-All direct health care costs for both screening strategies were mea sured according to time and motion, and the expected costs evaluated using a decision analysis model. Results-The baseline analysis predicted that screening a prototype FAP fami ly would cost $4975/pound 3109 by molecular testing and $8031/pound 5019 by clinical screening strategy, when family members were monitored with the s ame frequency of clinical surveillance (every two to three years). Sensitiv ity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and t he cost of mutation identification in a proband. However, the APC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/pound 4677 and was especiall y sensitive to variability in age of onset of screening, family size, and c ost of genetic testing of at risk relatives. Conclusions-In FAP kindreds, a predictive genetic testing strategy costs le ss than conventional clinical screening, provided that the frequency of sur veillance is identical using either strategy. An additional significant ben efit is the elimination of unnecessary colonic examinations for those famil y members found to be noncarriers.