Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

Abstract

Purpose While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if high-quality test methods and follow-up care are available, public uptake and parental acceptance are not guaranteed. The aim of this study was to describe the parental perspective on NBS for SCID in the context of an implementation pilot. Psychosocial aspects have never been studied before for NBS for SCID and are important for societal acceptance, a major criterion when introducing new disorders in NBS programs. Methods To evaluate the perspective of parents, interviews were conducted with parents of newborns with abnormal SCID screening results (N = 17). In addition, questionnaires about NBS for SCID were sent to 2000 parents of healthy newborns who either participated or declined participation in the SONNET-study that screened 140,593 newborns for SCID. Results Support for NBS for SCID was expressed by the majority of parents in questionnaires from both a public health perspective and a personal perspective. Parents emphasized the emotional impact of an abnormal screening result in interviews. (Long-term) stress and anxiety can be experienced during and after referral indicating the importance of uniform follow-up protocols and adequate information provision. Conclusion The perspective of parents has led to several recommendations for NBS programs that are considering screening for SCID or other disorders. A close partnership of NBS programs’ stakeholders, immunologists, geneticists, and pediatricians-immunologists in different countries is required for moving towards universal SCID screening for all infants.

Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data

“…From an economic point of view, a screening strategy with a cutoff of TREC ≤ 10 copies/3.2 mm is not preferred, while outcomes for a screening strategy with a cutoff of TREC ≤ 6 copies/3.2 mm punch and the new screening algorithm are comparable. However, the new screening algorithm distinguished by urgent referrals for TREC levels 0–2 copies/punch and repeat heel pricks for cases with TREC levels > 2 to ≤10 resulted in the lowest number of referrals, thereby preventing emotional stress for parents [ 16 ] and workloads for downstream referral centers, which may be arguments to prefer this screening algorithm. It is worth considering second-tier test options that can reduce the number of referrals even more, although a second-tier test does come with extra costs [ 17 ].…”

“…TREC analysis was performed according to the SPOT-it™ kit instructions for use (ImmunoIVD, Stockholm, Sweden) according to a preset screening algorithm [ 16 ]. NBS cards with TRECs below cut-off required repeated analysis in duplicate (retest).…”

Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists

“…Opinions on this issue vary substantially, especially between different countries. Another point that should be taken into consideration is the emotional impact of an abnormal screening result on parents, irrespective of the final outcome of the diagnostic process [4]. Altogether, there is a need to find the optimal balance between the identification of SCID patients and the pickup rate of incidental findings.…”

“…Parameters that directly influence the number and type of referrals are [1] the used TREC assay in combination with the cut-off value, [2] the screening algorithm, [3] the referral policies including the policy for pre-terms, and [4] the potential use of second tier tests and genetics. These parameters vary per screening program.…”

Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective

“…This was based on applying the classical principles of NBS (1). Some of these 14 disorders became eligible for NBS because of the availability of new screening methods, such as measuring T-cell receptor excision circles (TRECs) for severe combined immunodeficiency (SCID) screening (4). Although the current expansion improves the early diagnosis and treatment for more disorders, there are several challenges.…”