Cost-effectiveness analysis of carrier and prenatal genetic testing for X-linked hemophilia

Meng Che Tsai, Chao Neng Cheng, Ru Jay Wang, Kow Tong Chen, Mei Chin Kuo, Shio Jean Lin

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Background/purpose: Hemophilia involves a lifelong burden from the perspective of the patient and the entire healthcare system. Advances in genetic testing provide valuable information to hemophilia-affected families for family planning. The aim of this study was to analyze the cost-effectiveness of carrier and prenatal genetic testing in the health-economic framework in Taiwan. Methods: A questionnaire was developed to assess the attitudes towards genetic testing for hemophilia. We modeled clinical outcomes of the proposed testing scheme by using the decision tree method. Incremental cost-effectiveness analysis was conducted, based on data from the National Health Insurance (NHI) database and a questionnaire survey. Results: From the NHI database, 1111 hemophilic patients were identified and required an average medical expenditure of approximately New Taiwan (NT) $2.1 million per patient-year in 2009. By using the decision tree model, we estimated that 26 potential carriers need to be tested to prevent one case of hemophilia. At a screening rate of 79%, carrier and prenatal genetic testing would cost NT $85.9 million, which would be offset by an incremental saving of NT $203 million per year by preventing 96 cases of hemophilia. Assuming that the life expectancy for hemophilic patients is 70 years, genetic testing could further save NT $14.2 billion. Higher screening rates would increase the savings for healthcare resources. Conclusion: Carrier and prenatal genetic testing for hemophilia is a cost-effective investment in healthcare allocation. A case management system should be integrated in the current practice to facilitate patient care (e.g., collecting family pedigrees and providing genetic counseling).

Original languageEnglish
Pages (from-to)722-728
Number of pages7
JournalJournal of the Formosan Medical Association
Issue number8
Publication statusPublished - 2015 Aug 1

All Science Journal Classification (ASJC) codes

  • Medicine(all)


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