Costs, eVects, and savings of screening for cystic fibrosis gene carriers

Study objective—Evaluating the costs, eVects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. Design—A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two strategies were evaluated: single entry and double entry two step couple screening. Firstly, the Dutch situation was evaluated prospectively; subsequently the results were generalised to other carrier frequencies. Setting—Prospective simulation model. Main results—Of all screening strategies, neonatal carrier screening gives most carrier couples an informed choice concerning reproduction. If the parents of carrier newborns would not be tested however, prenatal screening detects most carrier couples. Prenatal and single entry preconceptional screening programmes have a favourable cost-savings balance in the Netherlands under a wide range of assumptions. For double entry preconceptional screening and neonatal screening, high enough values of uptake of screening, prenatal diagnosis, and induced abortion are necessary. School carrier screening does not have a favourable cost-savings balance. Conclusions—If a CF screening programme is judged to be useful on individual and social grounds, costs considerations are no obstacle for prenatal and single entry preconceptional screening. (J Epidemiol Community Health 1998;52:459–467) Cystic fibrosis (CF) is the most frequent serious autosomal recessive disease in white populations. Characteristics of CF are chronic bronchopulmonary infections, pancreatic insuYciency, disturbances of the digestive tract, and high sweat sodium concentration. The disease has a great impact on the length and quality of life and causes a comparatively high medical consumption. 2 Treatment starts from the diagnosis and continues throughout life, and consists of prescribing additional calories, vitamins and pancreas enzymes, and fighting the respiratory infections with antibiotics and intensive physiotherapy. In 1989, the gene responsible for cystic fibrosis was cloned. Nowadays, more than 600 mutations of this CFTR gene are known (CF Genetic Analysis Consortium). Of these, the so called ÄF508 mutation, a three base deletion in a part of the gene, is by far the most common in Western Europe, while a limited number of other mutations accounts for more than half of the non-ÄF508 mutated genes. 7 These mutations can be detected by polymerase chain reaction analysis with, apart from laboratory errors, a perfect sensitivity and specificity. This makes it possible to consider introducing a screening programme for carriers of the CF gene, where the primary aim is to detect carrier status and counsel couples whose members are both carrier of a CF gene mutation so that they can make deliberate decisions about reproduction. Screening for CF gene carriers is under debate in many countries. There are health related, psychosocial, ethical, legal, and economic consequences associated with CF gene carrier screening, as with other genetic screening programmes. In the Netherlands, the Dutch Health Council recently formulated criteria for genetic screening programmes intended to ensure systematic assessment of such programmes before their introduction. The last criterium states that if the positive consequences clearly outweigh the negative consequences, costs and savings of the screening programme should be calculated and checked in view of a fair distribution of resources within the total area of the health services. We started a prospective evaluation to determine the cost-savings balance of CF screening and related the costs to eVect measures. If the economic balance will turn out to be unacceptably unfavourable, CF screening is not warranted anyhow. If, on the other hand, the economic balance is favourable, decision making can concentrate on the crucial non-