Due to the optimisation of the screening methods, the number of children wrongly referred for diagnosis based on an anomalous newborn blood spot screening result has declined in recent years.
Implementation of blood spot screening in the Caribbean Netherlands
In October 2013, the Dutch Minister for Health, Welfare and Sport decided to introduce blood spot screening in the Caribbean Netherlands. The RIVMNational Institute for Public Health and the Environment CvB has prepared the implementation of blood spot screening in the Caribbean Netherlands, at the instigation of the Dutch Ministry of Health, Welfare and Sport. Newborn blood spot screening commenced on Bonaire on 1 January 2015. St. Eustatius and Saba followed in October of that year.
Legal information on screening programmes
Expectant parents and their partners are entitled to be fully informed, and their consent is required if they wish to participate in a screening programme. Participating in a screening programme also means that the relevant data is recorded. Why is that necessary? How is this data entered into a registration system? How is the data used, and how is people’s privacy protected? A website containing legal information about screening programmes for pregnant women and newborns is available. It is intended for pregnant women, their partners and other interested parties. A brief summary of this legal information has also been added to the sites of the various prenatal and newborn screening programmes.
Policy on the further use of bodily material
In anticipation of general legal regulations on the use (or further use) of bodily material (Control over Body Materials Act), clear policies should be established for population screening programmes with respect to the retention and use of bodily material taken in the context of screening programmes for objectives that fall within the scope of screening (primary diagnosis and follow-up diagnostic testing, internal quality control and improvement, education and training) and other purposes (further use). The current situation regarding the further use of bodily material is that, for non-traceable bodily material, if no objection is made then consent is assumed. In the case of the further use of traceable bodily material, seeking consent is mandatory. Procedures for use of the remainder of blood spot material collected during the heel prick, are stated on the website www.rivm.nl/hielprik/professionals.
At the instigation of the RIVM CvB, a description has been prepared of the legal conditions governing the storage and use of bodily material taken in the context of population screening programmes. In 2012/2013, the CvB submitted an advisory report to the Dutch Ministry of Health, Welfare and Sport concerning working with bodily material in screening programmes. Last May and June 2017, the Dutch Ministry of Health, Welfare and Sport has organized an internet consult regarding the law proposal about bodily material. In this period, discussions and meetings took place between RIVM-CvB and the Dutch Ministry of Health, Welfare and Sport regarding population screening programmes. Pending the decision of the Dutch Ministry of Health, Welfare and Sport about this new law proposal, the existing procedure will need to be modified accordingly.
Health Council of the Netherlands advisory report entitled ‘Neonatal screening: new recommendations’
On 8 April 2015, the Health Council of the Netherlands issued a wide-ranging advisory report on blood spot screening. The Health Council of the Netherlands recommends that the newborn blood spot screening should be extended with another fourteen disorders, that screening for homocystinuria should be terminated, that no non-treatable disorders should be included in the screening programme, and that the procedure of reporting carrier status for sickle cell anaemia should be terminatedOn 9 July 2015, the former Dutch Ministry of Health, Welfare and Sport published a policy position paper entitled ‘Newborn blood spot screening’. The Minister at that time, planned to extend the newborn blood spot screening by including another 14 disorders. However, the Minister asked RIVM CvB to carry out a feasibility study first, to determine the practicalities involved. To support the fast implementation of the alpha- and beta-thalassemia to the screening programme, the RIVM-CvB produced the first part of the feasibility report in November 2016. Since 1 January 2017, both diseases are included to the blood spot screening.
The second part of the feasibility report, which has been set up in close cooperation with all relevant parties, is provided to the Ministry of Health, Welfare and Sport on 6 July 2017. On 21 December 2017, the minister informed the house of representatives about the decision to extend the blood spot screening with 12 diseases. The implementation of these diseases will take place in phases, distributed over the period of 2018-2022. For each of these 12 diseases, additional research is needed. On 1 April 2018, the regional pilot study (SONNET) was started in order to investigate the implementation of the very severe and rare immune deficiency disease (SCID).
In the policy statement of 9 July 2015, it was requested to investigate the possibilities of inclusion of untreatable diseases to the blood spot screening. On 21 December 2018, the Minister of Health, Welfare and Sport stated that it is too early to start a feasibility study about the introduction of untreatable diseases. The minister asks the Health Council to advice on the conditions among which such diseases could be included in the programme.
Regarding the procedure of reporting carrier status for sickle cell anaemia, the former policy will not be changed. This means that the carrier status will be reported in case parents do not object. The minister will not yet change this policy and will come back to this topic later on.
The former Minister indicated in the policy statement of 9 july 2015 that, in the case of newborn blood spot screening, she wants to be able to respond more quickly to innovations to achieve rapid health gains. For this reason, she plans to seek the Health Council of the Netherlands’ advice more frequently, as and when this is necessitated by new developments.