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Updated: Sep 18, 2025
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Informed Consent for Newborn Genomic Screening: Interest-Holder Perspectives on Dynamic Consent in an Evolving
Marina Okamura1, Emma Minchin1, Carolyn Mazariego2
1School of Psychology, The University of Sydney, Sydney, NSW 2006, Australia.
International Journal of Neonatal Screening
|June 25, 2025
Summary
Genomic newborn bloodspot screening (gNBS) requires improved informed consent. Dynamic Consent Platforms show promise for gNBS, but accessibility and integration challenges must be addressed.
Area of Science:
- Genomics
- Public Health
- Bioethics
Background:
- Newborn Bloodspot Screening (NBS) is crucial for early disease detection.
- Genomic NBS (gNBS) integration offers earlier diagnosis but complicates consent.
- Existing consent processes may not adequately address gNBS complexities.
Purpose of the Study:
- To explore interest-holder perspectives on informed consent challenges in current and genomic NBS.
- To assess the acceptability, feasibility, and utility of Dynamic Consent Platforms (DCPs) for gNBS.
Main Methods:
- Qualitative study involving semi-structured interviews.
- Sixteen key interest-holders from NBS and genomic consent fields participated.
- Thematic analysis was used to identify key themes.
Main Results:
- Participants highlighted challenges in current NBS consent and anticipated gNBS complexities.
- Revising consent timing and standardizing clinician training were emphasized.
- DCPs were seen as valuable for gNBS consent, with concerns about accessibility and system integration.
Conclusions:
- gNBS necessitates enhanced informed consent processes.
- Dynamic Consent Platforms offer a potential solution but require careful implementation.
- Further research and system integration planning are needed for effective gNBS consent.
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