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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). [ABSTRACT FROM AUTHOR]

Background: Although cystic fibrosis (CF) is a common genetic condition, genetic counselling services appear to be underutilised by affected families. The aim of this study was to determine the uptake of genetic counselling and mutation testing for CF by relatives of affected individuals, and the impact of introducing hospital-based genetic counselling services. Method: The files of 153 families seen for genetic counselling for CF by staff of the Division of Human Genetics, School of Pathology, University of the Witwatersrand, and the National Health Laboratory Service (NHLS) in Johannesburg, were retrospectively reviewed from 1990 to 2006, the year when hospital-based genetic counselling services were introduced. Results: Parents of CF probands were the largest single group (35%) of counsellees. Most individuals (66%) attended genetic counselling to gather information. Most had been referred by medical specialists (56%). Only 10% of referrals originated from general practitioners. On average, from 1990-2005, six families received genetic counselling annually, whereas in 2006, 58 families were seen. In 140 unrelated families, 1 991 relatives with carrier risks of = 25% were identified. Only 11% of these relatives underwent mutation testing, and eight per cent received genetic counselling through our division over the review period. Conclusion: Overall, referrals of family members (of affected CF individuals) to genetic counselling, by general practitioners, are poor . Uptake of genetic counselling services is greater when such services are integrated into hospital-based CF management clinics, than when offered elsewhere. The low uptake of mutation testing and genetic counselling by at-risk relatives is a concern, since these relatives are at high risk of having affected children, if their partners are CF carriers. Education of affected individuals, their close relatives, and medical practitioners, should be prioritised. This will ensure referral to genetic counselling for discussion about the risks of and available testing for CF, and other genetic conditions. [ABSTRACT FROM AUTHOR]