Next Article in Journal
Ten-Year Anniversary of the International Journal of Neonatal Screening: Revisiting Its Scope
Previous Article in Journal
Participatory Workflow Analysis of Newborn Genetic Screening (NBS) to Support Tools for Improved Follow-Up: Comparing the Use Case of Hemoglobinopathy Traits Across U.S. States
 
 
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape

by
Marina Okamura
1,
Emma Minchin
1,
Carolyn Mazariego
2,
Jolyn Hersch
1,3,
Natalie Taylor
2,† and
Ilona Juraskova
1,*,†
1
School of Psychology, The University of Sydney, Sydney, NSW 2006, Australia
2
Implementation to Impact (i2i), School of Population Health, University of New South Wales, Sydney, NSW 2052, Australia
3
School of Public Health, The University of Sydney, Sydney, NSW 2006, Australia
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Int. J. Neonatal Screen. 2025, 11(2), 41; https://doi.org/10.3390/ijns11020041
Submission received: 10 March 2025 / Revised: 2 May 2025 / Accepted: 21 May 2025 / Published: 28 May 2025

Abstract

Newborn Bloodspot Screening (NBS) has significantly advanced early disease detection, preventing severe disability and infant mortality. The anticipated integration of genomic technologies into NBS (gNBS) promises earlier diagnosis and targeted treatments. However, it also introduces complexities that necessitate enhanced consent processes. Dynamic Consent Platforms (DCPs), with their layered information and modifiable preferences, may fulfil this rapidly evolving need. This qualitative study explored NBS and genomic interest-holder perspectives on (i) challenges in obtaining informed consent within the current and genomic NBS contexts, and (ii) the acceptability, feasibility, and utility of DCPs for genomics. Sixteen key interest-holders involved in NBS/genomic consent (midwives, genetic counsellors, geneticists, researchers, pathologist, consumer advocate) completed a semi-structured interview. Thematic analysis identified four main themes: (i) looking towards genomic expansions, (ii) systemic issues, (iii) genomic consent information, and (iv) Dynamic Consent Platforms. Participants emphasised revising the timing of consent processes and standardising consent training for clinicians. A nationally standardised DCP was perceived as valuable for addressing consent challenges within gNBS; however, concerns were raised regarding accessibility of online resources for vulnerable populations and integrating DCPs into healthcare systems. Recommendations for future research and clinical implications in this evolving field are discussed.
Keywords: newborn screening; informed consent; genomic testing; dynamic consent platform; qualitative research newborn screening; informed consent; genomic testing; dynamic consent platform; qualitative research

Share and Cite

MDPI and ACS Style

Okamura, M.; Minchin, E.; Mazariego, C.; Hersch, J.; Taylor, N.; Juraskova, I. Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape. Int. J. Neonatal Screen. 2025, 11, 41. https://doi.org/10.3390/ijns11020041

AMA Style

Okamura M, Minchin E, Mazariego C, Hersch J, Taylor N, Juraskova I. Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape. International Journal of Neonatal Screening. 2025; 11(2):41. https://doi.org/10.3390/ijns11020041

Chicago/Turabian Style

Okamura, Marina, Emma Minchin, Carolyn Mazariego, Jolyn Hersch, Natalie Taylor, and Ilona Juraskova. 2025. "Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape" International Journal of Neonatal Screening 11, no. 2: 41. https://doi.org/10.3390/ijns11020041

APA Style

Okamura, M., Minchin, E., Mazariego, C., Hersch, J., Taylor, N., & Juraskova, I. (2025). Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving Landscape. International Journal of Neonatal Screening, 11(2), 41. https://doi.org/10.3390/ijns11020041

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Back to TopTop