[An economic assessment of genetic testing for familial adenomatous polyposis]

To analyze the cost-effectiveness of genetic testing for first-degree relatives of patients with colon cancer to identify mutations in the APC gene (Adenomatous Polyposis Coli).

Analyses were performed from the perspective of the health system. We used a Markov model. We compared genetic testing for the APC gene, the cause of familial adenomatous polyposis (FAP), which results in colon cancer, versus no genetic testing for said gene. The effectiveness measure used was quality-adjusted life-years (QALYs), and costs were measured in euros for 2005. The costs of interventions were extracted from the costs of health services provided by centers under the Andalusian Public Health System, and other parameters were obtained from the literature.

The performance of genetic testing is the dominant strategy when compared to the absence of genetic testing given the latter option has an incremental cost of 7,676.34 euros and is less effective. A sensitivity analysis found that genetic testing remains the dominant strategy for a plausible range of costs of the test itself, and for the probability of developing adenocarcinoma.

Our analysis showed that in this patient group genetic testing to detect APC gene mutations is on average less costly and improves QALYs versus no testing.