Maartje Blom1,2, Robbert G M Bredius3, Marleen E Jansen2, Gert Weijman4, Evelien A Kemper5, Clementien L Vermont6, Iris H I M Hollink7, Willem A Dik8,9, Joris M van Montfrans10, Mariëlle E van Gijn11, Stefanie S Henriet12, Koen J van Aerde12, Wouter Koole13, Arjan C Lankester3, Eugènie H B M Dekkers14, Peter C J I Schielen2, Martine C de Vries15, Lidewij Henneman16, Mirjam van der Burg17. 1. Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. 2. Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands. 3. Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands. 4. Department of Vaccine Supply and Prevention Programmes, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands. 5. Department of Clinical Chemistry, IJsselland Hospital, Capelle aan den IJssel, The Netherlands. 6. Department of Pediatric Immunology and Infectious Diseases, Sophia Children's Hospital, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. 7. Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. 8. Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. 9. Department of Internal Medicine, Section Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. 10. Department of Pediatric Immunology and Infectious Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. 11. Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands. 12. Department of Pediatric Immunology and Infectious Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands. 13. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. 14. Centre for Population Screening, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands. 15. Department of Medical Ethics and Health Law, Leiden University Medical Center, Leiden, The Netherlands. 16. Department of Clinical Genetics and Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 17. Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. m.van_der_burg@lumc.nl.
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.
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.
Entities:
Keywords:
Severe combined immunodeficiency; interviews; newborn blood screening; parental perspective; questionnaire study
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