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

摘要

BACKGROUND—Mutations of theAPC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome. 
AIMS—To conduct a cost comparisonanalysis of predictive genetic testing versus conventional clinicalscreening for individuals at risk of inheriting FAP, using theperspective of a third party payer. 
METHODS—All direct health carecosts for both screening strategies were measured according to time andmotion, and the expected costs evaluated using a decision analysis model. 
RESULTS—The baseline analysispredicted that screening a prototype FAP family would cost $4975/£3109by molecular testing and $8031/£5019 by clinical screening strategy,when family members were monitored with the same frequency of clinicalsurveillance (every two to three years). Sensitivity analyses revealedthat the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost ofmutation identification in a proband. However, if the APC mutation carriers were monitored at anincreased (annual) frequency, the cost of the genetic screeningstrategy increased to $7483/£4677 and was especially sensitive tovariability in age of onset of screening, family size, and cost ofgenetic testing of at risk relatives. 
CONCLUSIONS—In FAP kindreds, apredictive genetic testing strategy costs less than conventionalclinical screening, provided that the frequency of surveillance isidentical using either strategy. An additional significant benefit isthe elimination of unnecessary colonic examinations for those familymembers found to be non-carriers.