Costs and effects of genetic screening with application to cystic fibrosis and fragile X syndrome

Two to six percent of all newborn children have a disorder with a genetic cause (1-3). For an increasing number of these diseases, the precise genetic cause is known and this can lead to new treatment opportunities (see Appendix A for a basic description of the mechanisms of genetic inheritance). However, for most disorders total cure is not yet possible. For example, complications in patients with cystic fibrosis can be reduced by intensive treatment, but many patients will still die of lung problems caused by the disease. For diseases for which cure is not yet possible genetic screening might be a (temporary) solution. For example, a genetic screening programme in most Western countries is the offer of amniocentesis to pregnant women of a specified age (36 years and older in The Netherlands) to detect Down syndrome. Women in whom a foetus with Down syndrome is detected can then decide to prepare for the birth of an affected child or to avoid its birth by induced abortion. A list with examples of tests to detect disorders with a genetic cause or component currently offered in The Netherlands is given in Table 1.1. Because of the increasing number of genetic diseases that can be detected early, this list will probably continue to be extended.

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