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Psychosocial aspects of newborn bloodspot screening: evaluating perspectives on the current program and ongoing expansion

Projectomschrijving

PANDA studie: Psychosociale aspecten van (uitbreiding van) de neonatale hielprikscreening

Vraagstuk

Jaarlijks worden bijna alle 170.000 pasgeborenen in ons land met de neonatale hielprikscreening onderzocht op 19 zeldzame, ernstige, vaak erfelijke aandoeningen. Vroegtijdige opsporing van deze aandoeningen is belangrijk om onomkeerbare schade aan de gezondheid te voorkomen of te beperken. De komende jaren zal het aantal aandoeningen op advies van de Gezondheidsraad verder worden uitgebreid. Deze uitbreiding roept nieuwe (ethische) vragen op. Ook is er weinig bekend over hoe ouders de hielprikscreening ervaren en hoe ouders omgaan met fout-positieve uitslagen.

Onderzoek en verwachte uitkomst

Doel is om met vragenlijsten en interviews inzicht te verkrijgen in de psychosociale gevolgen van de hielprikscreening. Het onderzoek geeft inzicht in de waardering van ouders van (de uitbreiding van) het hielprikscreeningsprogramma en de beleving en betekenis van de uitslag. Met de uitkomsten zullen aanbevelingen worden gedaan voor (uitbreiding van) het screeningsprogramma.

Lees verder

Producten

Titel: Impact van de diagnose OCTN2-deficientie bij moeder na de hielprik
Auteur: L.M. van den Heuvel
Link: https://tinyurl.com/yckv7jjy
Titel: Stakeholderperspectieven op (uitbreiding) neonatale hielprikscreening
Auteur: A. Kater-Kuipers
Link: https://www.forumbg.nl/
Titel: PANDA studie: Hoe denken ouders en andere stakeholders over de hielprik en de uitbreiding ervan
Auteur: L. Henneman
Titel: Dutch parents’ and professionals’ perspectives on expanding neonatal bloodspot screening to newer disorders.
Auteur: L. Henneman
Link: https://www.isns2021.com/programme/
Titel: Parents’ views on accepting, declining and expanding newborn bloodspot screening
Auteur: Jasmijn E. Klapwijk, Sylvia van der Pal, Sophie Wins, Tessa van Dijk, Adriana Kater-Kuipers, Catharina P.B. van der Ploeg, Suze Jans, Stephan Kemp, Rendelien K. Verschoof-Puite, Lion J.M. van den Bosch, Lidewij Henneman
Link: https://2022.eshg.org/
Titel: Psychosocial aspects of newborn bloodspot screening (PANDA study): evaluating perspectives on the current program and ongoing expansion
Auteur: Tessa van Dijk, Adriana Kater, Sylvia van der Pal, Lidewij Henneman, on behalf the PANDA study team
Titel: PANDA studie: Psychosocial Aspects of Newborn Screening for Disorders Assessed
Auteur: L.Henneman
Titel: Expanding neonatal bloodspot screening: a multi-stakeholder perspective
Auteur: Tessa van Dijk, Adriana Kater, Marleen Jansen, Martina C. Cornel, Sylvia van der Pal, Lidewij Henneman
Titel: PANDA studie: Perspectief van ouders en andere stakeholders op de uitbreiding van de hielprikscreening in Nederland
Auteur: T. van Dijk
Link: https://www.vkgn.org/
Titel: Parental perspectives on expansion of newborn screening
Auteur: L. Henneman
Titel: Neonatal Bloodspot Screening: Parents’ and Professionals’ Views about (non-)Participation and Expansion
Auteur: Tessa van Dijk
Link: https://www.aanmelder.nl/jointmeeting/program
Titel: Psychosocial Aspects of Newborn Screening for Disorders Assessed
Auteur: Lidewij Henneman & Sylvia van der Pal
Titel: Resultaten van de PANDA studie: Psychosocial Aspects of Newborn Screening for Disorders Assessed
Auteur: L. Henneman
Titel: Factsheet Hielprik PANDA studie
Auteur: A. Kater-Kuipers, T. van Dijk, S. Wins, S.M. van der Pal, L. Henneman
Link: https://research.vumc.nl/ws/files/25251211/Factsheet_Hielprik_PANDA_studie.pdf
Titel: Nieuwsbrief pre- en neonatale screeningen
Auteur: RIVM
Link: https://www.rivm.nl/nieuwsbrief?id=101500-275-10504&pid=260791
Titel: Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide
Auteur: Martina C. Cornel, Tessel Rigter, Marleen E. Jansen, Lidewij Henneman
Magazine: Journal of Community Genetics
Titel: Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents’ Perspective on Ataxia Telangiectasia
Auteur: Blom, Maartje, Schoenaker, Michiel H. D., Hulst, Myrthe, de Vries, Martine C., Weemaes, Corry M. R., Willemsen, Michèl A. A. P., Henneman, Lidewij, van der Burg, Mirjam
Magazine: Frontiers in Immunology
Titel: Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder Perspective
Auteur: van Dijk T, Kater A, Jansen M, Dondorp WJ, Blom M, Kemp S, Langeveld M, Cornel MC, van der Pal SM, Henneman L.
Magazine: Frontiers in Pediatrics
Titel: Informing Parents about Newborn Screening: A European Comparison Study
Auteur: Amber IJzebrink, Tessa van Dijk, Vera Franková, J. Gerard Loeber, Viktor Kožich, Lidewij Henneman, Marleen E. Jansen
Magazine: International Journal of Neonatal Screening
Titel: Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands
Auteur: Maartje Blom, Robbert G. M. Bredius, Marleen E. Jansen, Gert Weijman, Evelien A. Kemper, Clementien L. Vermont, Iris H. I. M. Hollink, Willem A. Dik, Joris M. van Montfrans, Mariëlle E. van Gijn, Stefanie S. Henriet, Koen J. van Aerde, Wouter Koole, Arjan C. Lankester, Eugènie H. B. M. Dekkers, Peter C. J. I. Schielen, Martine C. de Vries, Lidewij Henneman & Mirjam van der Burg on behalf of the SONNET-Study Group
Magazine: Journal of Clinical Immunology
Titel: Parents’ views on accepting, declining, and expanding newborn bloodspot screening
Auteur: van der Pal S, Sophie Wins, Jasmijn E. Klapwijk, Tessa van Dijk, Adriana Kater-Kuipers, Catharina P. B. van der Ploeg, Suze Jans, Stephan Kemp, Rendelien K. Verschoof-Puite, Lion J.M. van den Bosch, Lidewij Henneman
Magazine: PLoS ONE
Titel: Uitbreiding hielprikscreening komt eraan
Auteur: Michel van Dijk
Magazine: Kinderarts & Samenleving

Verslagen


Samenvatting van de aanvraag

Background: In the Netherlands, nearly all parents of newborns (99.2%) participate in the Newborn Bloodspot Screening (NBS). Newborns undergo a heel prick test for 19 treatable, often genetic, disorders to offer timely intervention to avoid health problems. Societal acceptance of NBS is an important criterion for success. However, little is known about how Dutch parents perceive NBS and which factors affect screening acceptance. In the past years, several social and ethical questions have risen about NBS, concerning the program's goal and how to deal with secondary findings. New ethical questions are raised by the expansion of the Dutch NBS program that started in 2017, and will continue in the next years. Questions relate, for example, to the identification of asymptomatic mothers and finding untreatable conditions as by-products of screening, complicating information provision to parents. Although expanded NBS can improve the diagnosis of numerous treatable disorders to prevent irreversible health damage, concerns have also been raised about the increasing number and impact of false positives and the addition of disorders with later-onset variants or where the benefits of screening are less clear. As the NBS program is currently undergoing expansion, these issues are highly relevant to study now. Project aims: The project anticipates the current developments in NBS in the Netherlands. The aim is to investigate the psychosocial aspects of the (expansion of the) Dutch NBS program, including the perspectives of parents, health professionals and other stakeholders. More specifically, the project addresses the following four topics: 1) General view of parents and other stakeholders on (expansion of) NBS; 2) Impact of specific NBS test results (true positive, false positive, non-conclusive or secondary findings); 3) Reasons for (non-)participation in NBS; and 4) Condition-specific issues in current NBS expansion focussing on rare inborn errors of metabolism (i.e. organic cation transporter 2 (OCTN2) deficiency, X-linked adrenoleukodystrophy (ALD) and guanidinoacetate methyltransferase (GAMT) deficiency), and an immunodeficiency disorder (severe combined immunodeficiency; SCID). Methods: Mixed methods design including both qualitative (interviews) and quantitative (survey using questionnaires) research methodologies will be performed. To address the four topics, the project will be divided in three distinct phases: PHASE 1: Explorative stakeholder interviews and development of questionnaires; PHASE 2: Data collection in four sub-studies: Sub-study A will assess parents’ general opinion about NBS (expansion), and short-term psychosocial impact of test results using questionnaires send to approximately 6500 parents who had received NBS five weeks earlier; Sub-study B will assess long-term psychological impact and healthcare use among parents who received a true negative, true positive, false positive, non-conclusive or secondary finding as NBS test result, by completing a 4-month follow-up questionnaire. Sub-study C will look into parents’ reasons not to participate in NBS by using a questionnaire send to all (approximately n=720) parents who declined NBS in 2018, and Sub-study D will address the different condition-specific Ethical, Legal and Social Issues (ELSI) anticipated in the initiation and implementation of NBS for OCTN2 deficiency, ALD, GAMT deficiency and SCID. PHASE 3 addresses project evaluation, advisory report/factsheet development and dissemination. Embedding: The project is led by researchers from VUMC and TNO, and will receive input from a multidisciplinary Project Steering Committee involving most NBS stakeholders and a Parent Advisory Committee during the whole project. Significance: Looking at the ongoing expansion of the program, new conditions on the horizon, and fast development in technologies, screening programs will need the insights as adressed in this project to ensure a program that suits the population needs, while safeguarding the ethical principles for screening. Based on the findings, aspects of NBS such as the process and implementation of new conditions, the information provided to professionals and (future) parents and the consent processes might be adjusted to future-proof the program and ensure its relevance and acceptability to the population in the Netherlands.

Kenmerken

Projectnummer:
543002006
Looptijd: 100%
Looptijd: 100 %
2019
2022
Onderdeel van programma:
Gerelateerde subsidieronde:
Projectleider en penvoerder:
Prof. dr. L. Henneman
Verantwoordelijke organisatie:
Amsterdam UMC - locatie VUmc