• Open Access

Expectations and values about expanded newborn screening: a public engagement study

Authors

  • Robin Z. Hayeems PhD,

    Postdoctoral Fellow
    1. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada
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  • Fiona A. Miller PhD,

    Associate Professor, Corresponding author
    1. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada
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  • Yvonne Bombard PhD,

    Postdoctoral Fellow, Research Fellow
    1. Yale School of Public Health, Yale University, New Haven, CT, USA
    2. The Center for Health Policy and Outcomes, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
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  • Denise Avard PhD,

    Associate Professor and Research Director
    1. Department of Human Genetics, Centre of Genomics and Policy, McGill University, Montreéal, QC, Canada
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  • June Carroll MD,

    Associate Professor and Clinician Scientist
    1. Department of Family and Community Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada
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  • Brenda Wilson MBChB MSc MRCP (UK) FFPH,

    Professor
    1. Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, ON, Canada
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  • Julian Little PhD,

    Professor and Chair
    1. Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, ON, Canada
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  • Pranesh Chakraborty MD,

    Director, Physician, Assistant Professor
    1. Newborn Screening Ontario, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
    2. Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada
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  • Jessica Bytautas BA (Hons),

    Research Officer
    1. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada
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  • Yves Giguere MD PhD,

    Associate Professor, Physician and Program Director
    1. Department of Medical Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Universiteé Laval, Québec City, QC, Canada
    2. Quebec Newborn Blood Screening Program, CHU de Queébec, Québec City, QC, Canada
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  • Judith Allanson MD,

    Physician, Professor
    1. Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada
    2. Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada
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  • Renata Axler MBioethics

    PhD Candidate
    1. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada
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Abstract

Objectives

Newborn bloodspot screening (NBS) panels have expanded to include conditions for which treatment effects are less certain, creating debate about population-based screening criteria. We investigated Canadian public expectations and values regarding the types of conditions that should be included in NBS and whether parents should provide consent.

Methods

Eight focus groups (FG; n = 60) included education, deliberative discussion and pre-/post-questionnaires. Data were analysed quantitatively and qualitatively.

Results

Quantitatively, the majority supported NBS for serious disorders for which treatment is not available (95–98, 82%). A majority endorsed screening without explicit consent (77–88%) for treatable disorders, but 62% supported unpressured choice for screening for untreatable disorders. Qualitatively, participants valued treatment-related benefits for infants and informational benefits for families. Concern for anxiety, stigma and unwanted knowledge depended upon disease context and strength of countervailing benefits.

Conclusions

Anticipated benefits of expanded infant screening were prioritized over harms, with information provision perceived as a mechanism for mitigating harms and enabling choice. However, we urge caution around the potential for public enthusiasm to foster unlimited uptake of infant screening technologies.

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