AbstractCystic fibrosis (CF) is the most common life-limiting disorder among whites, with an incidence in our country of about 1 in 4000-45000 live births. In Norway, the diagnosis is currently made after patients present with symptoms and signs typical of CF – and a significant proportion of patients already have severe complications at the time of diagnosis. A method for screening newborns for CF has been available since the early 1980’s and is in use in several countries.
The question that arises is whether CF newborn screening should be implemented in Norway. In order to answer this, we need to know whether newborn screening represents a real health benefit to those affected by the disorder. Psychosocial aspects and cost-effectiveness of screening need to be considered as well. Also, we need to know if in the light of a different distribution of CF causing mutations than in other countries, screening for CF can give satisfying results in Norway, using methods available today.
The literature was reviewed for studies comparing the outcome of screened and non-screened cohorts as well as articles dealing with cost-effectiveness and psychosocial aspects of CF newborn screening. The distribution of mutations in our population was assessed using material from The Norwegian Centre for CF, and compared to that in other countries in order to estimate the sensitivity that can be obtained if screening our population.
Newborn screening for cystic fibrosis is associated with reduced intensity of treatment. Moreover, children with CF diagnosed with newborn screening grow significantly better and do better at cognitive function tests than those diagnosed conventionally. There is as yet no definite effect on pulmonary health or child survival, however, with new methods of treatment there is hope that CF newborn screening can help prevent the development of irreversible changes in the lungs of these patients. The effect on psychosocial aspects is equivocal, whereas economic analyses conclude that significant cost-savings can result from adding CF to an existing screening programme. Analysis on Norwegian data suggests that a sensitivity between 90 and 100 % can be obtained in a Norwegian population, which is no worse than in countries screening today.
As the risk of harm from the screening test is low and there is significant benefit, screening for CF is justified. Today both clinical and economic evidence suggests that a newborn screening programme for CF should be adopted in Norway.