Parents' perspectives and societal acceptance of implementation of newborn screening for SCID in the Netherlands

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.Transplantation and immunomodulatio

Voor het eerst Nederlandse SCID-patiënt geidentificeerd met de hielprikscreening

‘Severe combined immunodeficiency’ (SCID) is een zeldzame, ernstige afweerstoornis, waaraan diverse monogenetische gendefecten ten grondslag kunnen liggen. Kinderen met SCID ontwikkelen in de eerste levensmaanden ernstige, recidiverende infecties en zonder behandeling (zoals hematopoëtische stamceltransplantatie of gentherapie) overlijden deze patiënten meestal in het eerste levensjaar. Vroege opsporing van SCID door de detectie van ‘T-cell receptor exicison circles’ in hielprikbloed kan leiden tot een significante verbetering van overleving en verminderde morbiditeit na curatieve therapie. In Nederland is in de SONNET-studie (een prospectieve implementatiepilot) nu voor het eerst een SCID-patiënt geïdentificeerd via de hielprikscreening. De patiënt met de diagnose ‘X-linked’ SCID onderging in uitstekende klinische conditie een hematopoëtische stamceltransplantatie met vooralsnog een goede uitkomst voor de patiënt tot gevolg