Regulatory landscape of providing information on newborn screening to parents across Europe

Abstract

Newborn screening (NBS) is an important part of public healthcare systems in many countries. The provision of information to parents about NBS is now recognised as an integral part of the screening process. Informing parents on all aspects of screening helps to achieve the benefits, promote trust and foster support for NBS. Therefore, policies and guidelines should exist to govern how the information about NBS is provided to parents, taking into account evidence-based best practices. The purpose of our survey was to explore whether any legally binding provisions, guidelines or recommendations existed pertaining to the provision of information about NBS to parents across Europe. Questions were designed to determine the regulatory process of when, by whom and how parents should be informed about screening. Twenty-seven countries participated in the survey. The results indicated that most countries had some sort of legal framework or guidelines for the provision of information to parents. However, only 37% indicated that the provision of information was required prenatally. The majority of countries were verbally informing parents with the aid of written materials postnatally, just prior to sample collection. Information was provided by a neonatologist, midwife or nurse. A website dedicated to NBS was available for 67% of countries and 89% had written materials about NBS for parents. The survey showed that there is a lack of harmonisation among European countries in the provision of information about NBS and emphasised the need for more comprehensive guidelines at the European level.

Fig. 1. Types of regulatory framework.

The Venn diagram is shown to illustrate the possible combination of three types of regulatory frameworks and their overlap. A similar number of countries had legally binding provisions (n = 19) or national guidelines/recommendations (n = 20) with an overlap between the two groups of nine countries. A much smaller number of countries had regional guidelines/recommendations (n = 6). Three countries had all three types of regulation. Other possible overlaps of regulations are shown in the figure.

Fig. 2. Comparison of topics covered in NBS official web pages and written materials.

For evaluation of information materials, the presented topics were selected based on recommendations from the American Academy of Paeditrics Task Force on NBS [25].