Cost effectiveness of DNA diagnosis for four monogenic diseases

In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having 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 previous 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 on the future burden of the monogenic illness under consideration. DNA diagnosis of relative "low" prior risks of a child with CF (for example, 1:180, 1:240 and 1:480) leads to costs instead of savings. For higher prior risks of CF and for the three other diseases, DNA diagnosis produces considerable savings. This result remains valid when assumptions regarding behaviour, reproduction, and receiving DNA diagnosis under different circumstances are varied.