Cost-utility analysis of genetic polymorphism universal screening in colorectal cancer prevention by detection of high-risk individuals

• Type: Article in International Scientific Journal
• Date: 2019

Authors

Pereira, C (Author) FMUP; Areia, M (Author) Other; Mario Dinis Ribeiro (Author) FMUP

Journal

Title: Digestive and Liver Disease

Vol. 51

Pages: 1731-1737

ISSN: 1590-8658

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 1 Citation

Other information

Authenticus ID: P-00Q-Z27

DOI: 10.1016/j.dld.2019.07.012

Abstract (EN): Background: In the past 15 years numerous studies have been published on the involvement of low-penetrance susceptibility genes on the risk for developing colorectal cancer (CRC). Aim: To perform an economic analysis of blood genetic testing in CRC screening in a population-based nationwide setting using polymorphisms in prostaglandin E-2 pathway genes as proof of concept. Methods: A cost-utility analysis was performed from a societal perspective in Portugal comparing two strategies: blood genetic testing by the age of 40 versus no genetic screening under different assumptions of the cost of genetic testing ((sic)10 and (sic)30) and expected risk (1.5 to 5-fold). The adopted threshold was set at (sic)44,870 (USD 50,000). The primary outcome was the incremental cost-effectiveness ratio (ICER) for a base case scenario. Results: Polymorphism genotyping provided cost-utility only under the assumption of a 5-fold increased risk in the general population, providing ICERs of (sic)44,356 and (sic)30,389 for (sic)30 and (sic)10 tests, respectively. Conclusion: Blood genetic screening for colorectal cancer has cost-utility only under specific assumptions of increased CRC risk and conservative cost estimates. Future studies should focus on defining genetic profiles because single-gene approaches are very unlikely to be cost-effective considering their modest predictive value.

Language: English

Type (Professor's evaluation): Dissemination

No. of pages: 7