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.

Current Status of Newborn Screening in Southeastern Europe

“…A few countries introduced an expanded NBS, while a greater part of them still screen for the CH and PKU only and one of the surveyed countries still does not have a NBS at all. Very recent surveys confirmed a persisting lack of harmonization of NBS programs among European countries, emphasizing the need for more comprehensive guidelines at the European level (20,42). The urge to put further effort and support into harmonization of the state of NBS in SE Europe through international cooperation and sharing of practical and theoretical knowledge persists.…”

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations

“…In current screening programs, while information about the tests and the conditions tested for is typically available, there are generally modest (if any) attempts to ensure that parents have actively obtained and understood this information (there are variable approaches to pre-screening information provision in different settings [ 42 ]). This is not surprising, since the medical details of current screening programs are very difficult to understand and evaluate.…”

Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward

“…Disagreement regarding which disorders are screened for has largely (though not entirely) been avoided in some jurisdictions through standardization ( Advisory Committee on Heritable Disorders in Newborns and Children, 2018 ) and concerted efforts are ongoing to harmonize screening lists internationally ( Vittozzi et al, 2010 ; Franková et al, 2021 ). Wilson and Jungner anticipated such discrepancies and in 1968, developed criteria that outlined practical principles for screening services ( Box 1 ) ( Wilson and Jungner, 1968 ).…”