Abstract

In the first week after birth, a few drops of blood are taken from the heel of the baby and examined for a number of severe and rare congenital diseases. In 2015 the Health Council of the Netherlands advised the Minister of Health, Welfare and Sport to expand the heel prick test to include another fourteen disorders. The National Institute for Public Health and the Environment (RIVM) has carried out a so-called feasibility study to see if this is achievable. It appears that it is, as long as the expansion is implemented in phases.

However, it also appears that this expansion can only take place under a number of conditions including adequate staffing levels and financial means, the availability of flexible IT amenities, and a good interface with the health services. In 2017, the first two of the fourteen conditions - alpha and beta thalassemia - have already been added to the programme.

The expansion is a complex process due, amongst other things, to the large number of disorders, the logistics and organisation of laboratories, the availability and quality of testing methods, the follow-up investigations that will be necessary, and the interface with the health services. Furthermore, the test will cover rare disorders that are not yet included in the screening test in many countries. This means that only very limited knowledge is available at an international level.

After each of the investigations there is a go/no-go moment at which time the Minister must decide whether the condition can enter the implementation phase or further research is needed first. There is also the possibility that the condition cannot realistically be included in the heel prick screening test (at that time).

There is enough support for further expansion from professional bodies, patient organisations and other interested stakeholders. However, the current neonatal heel prick test must not come under pressure from the planned expansion and its associated preparations.