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.
Bibliographical noteFunding Information:
This study was funded by The Netherlands Organization for Health Research and Development ZonMW (SONNET-study, project 543002002). LH received funding from ZonMw to study the psychosocial aspects of (expanded) NBS (PANDA study, project 543002006). Acknowledgments Authorship Contributions
The authors would like to thank all those involved in the SONNET-study for their contribution and support. We want to thank all stakeholders in the Dutch newborn screening program with a warm thanks to all parents participating in the SONNET-study, the questionnaire study, and the interviews. The authors would like to express their gratitude to Myrthe Hulst for her aid in the questionnaire study and interviews, to all technicians from the RIVM and IJsselland hospital for all TREC analyses and to the technicians from the participating academic medical centers for their aid in follow-up diagnostics. Finally, a special thanks to José Verstegen and the Patient Organization “Stichting voor Afweerstoornissen (SAS)” for their involvement and support throughout the entire project. MvdB, RB, PS, and ED designed the study; MB, EK, IH, WD, MG, and WK performed analyses; MB, MJ, MV, and LH designed and performed questionnaire study; RB, GW, CV, JM, SH, KA, and AL did the clinical evaluations; MB and MJ analyzed the data; MvdB coordinated the project; MB, LH, and MvdB wrote the paper; all authors contributed to and approved the final version of the manuscript.
© 2020, The Author(s).