Nieuwe aanbevelingen voor neonatale screening

The Health Council of the Netherlands recently issued a report advising adding 14 new disorders to the current neonatal screening programme: 11 metabolic conditions, severe combined immunodeficiency disease, beta-thalassaemia major and HbH disease. This recommendation was made because of the availability of new tests and treatments. The new criteria of availability and accessibility of treatment became relevant following discussions on reimbursement of enzyme replacement therapy for Pompe’s disease. The potential for alternative or complementary measures for prevention are discussed, such as preconception and prenatal carrier screening. This report advises against reporting carrier information following newborn screening: advice that is not in line with earlier Health Council advice. A further recommendation is that newborn screening for untreatable conditions is not indicated now. Screening for untreatable conditions may not be the responsibility of national public health agencies, but alternative stakeholders have not been considered in the report.

Conflict of interest and financial support: an ICMJE form provided by the author is available online along with the full text of this article.