In this paper the costs and benefits associated with DNA-diagnosis of individuals who are at risk of a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered: cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy and fragile X syndrome. Counselling (triggered by prior information) on the basis of DNA-diagnosis is compared to the situation that only risk evaluation based on pedigree analysis is possible. The results show for each disease that with DNA-diagnosis couples can be more confident in choosing (further) offspring leading to the birth of more healthy children while the number of affected children is reduced. The costs minus savings within the health care sector depend on the prior risks and to the future burden of the monogenic illness considered. DNA-diagnosis of relative "low" prior risks of a child with CF (e.g. 1:180, 1:240 and 1:480) leads to costs in stead of savings. For higher prior risks of CF and for the three other diseases DNA-diagnosis induces considerable savings. This result remains valid when assumptions regarding behaviour regarding reproduction and receiving DNA-diagnosis under different circumstances are varied.

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Keywords DNA-diagnosis, cost-effectiveness, genetic counselling
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van der Riet, A.A.P.M., van Hout, B.A., & Rutten, F.F.H.. (1994). Cost-effectiveness of DNA-diagnosis for four monogenic diseases. Retrieved from