title: Predicting the performance of a genetic testing service for cancer susceptibility.
abstract: A genetic testing service can determine which members of a population might benefit most from cancer prevention. The eligibility criteria will affect the number of people who use a service and the proportion who test positive. This affects both the service's costs and benefits. The goal of this study was to create computer software that predicts the effect of eligibility restrictions on the performance of a genetic testing service. The software allows eligibility restrictions based on age, gender, and family history of disease. As performance measures, we considered the sensitivity and specificity of eligibility criteria to identify people with genetic cancer susceptibility, the likelihood of genetic susceptibility among people who are eligible for the service, and the likelihood of genetic susceptibility among people who are ineligible. We compared the performance predicted by our model with the observed performance of the Hereditary Cancer Program at the BC Cancer Agency, and studied the effects of changes to model parameters. There was good agreement between model predictions and observed outcomes, however, performance measures were affected by changes to the underlying model parameters. Computer software to predict the performance of a genetic testing service for cancer susceptibility is implemented on the website http://142.103.207.51:8080/gtsim.
authors.affiliation: BC Cancer Agency, Vancouver, British Columbia, Canada V5Z 4E6. cbajdik@bccrc.ca
authors.forename: Chris D
authors.initials: CD
authors.lastname: Bajdik
authors.forename: Steve
authors.initials: S
authors.lastname: Sung
authors.forename: John J
authors.initials: JJ
authors.lastname: Spinelli
authors.forename: David
authors.initials: D
authors.lastname: Huntsman
authors.forename: Steven
authors.initials: S
authors.lastname: Gallinger
authors.forename: Douglas
authors.initials: D
authors.lastname: Horsman
authors.forename: Richard P
authors.initials: RP
authors.lastname: Gallagher
mesh_terms: D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics*