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<p>The future use of genomics in Australia’s newborn bloodspot screening (NBS) program is likely to be associated with both positive and negative impacts. Before adopting this technology, it is important to understand the views of all stakeholders, including scientists, health care professionals (HCPs) and policy-makers involved in delivering the program. Semi-structured interviews or small group discussions were undertaken with 19 HCPs or scientists, and 16 policy-makers. Responses were analyzed using inductive content analysis. Participants acknowledged the potential of genomics in NBS to improve early detection, diagnosis, and treatment. However, they more often highlighted potential risks of genomics in NBS, and the broader technical and implementation challenges to the health system. Perspectives varied on whether genomic NBS should align with Australia’s current NBS paradigm, focusing on severe, treatable, early-onset conditions, or whether wider potential uses of genomic NBS data (such as later clinical uses) should drive a ‘paradigm shift’ in policy that values benefits beyond newborn screening. Respondents reported that effective implementation of genomic NBS will require adequate health system readiness, which will require national program coordination, adequate consent, an agreed ethical approach to reporting uncertain or non-actionable results, enhanced workforce capacity, enhanced laboratory and data infrastructure, equitable access to downstream health services, and ethically and legally agreed uses of the genomic data. Findings offer insights for Australia and other countries considering the use of genomics in NBS programs.</p>

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“Jumping too far ahead”: Australian healthcare professional, scientist, and policy maker perspectives on using genomics in newborn screening

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月14日

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  • Joanne Scarfe,
  • Alexis Turner,
  • Christian Meagher,
  • Michelle A. Farrar,
  • Kaustuv Bhattacharya,
  • Sarah-Grace Paguinto,
  • Nicole Millis,
  • Jo Watson,
  • Didu S. Kariyawasam,
  • Sarah Norris

摘要

The future use of genomics in Australia’s newborn bloodspot screening (NBS) program is likely to be associated with both positive and negative impacts. Before adopting this technology, it is important to understand the views of all stakeholders, including scientists, health care professionals (HCPs) and policy-makers involved in delivering the program. Semi-structured interviews or small group discussions were undertaken with 19 HCPs or scientists, and 16 policy-makers. Responses were analyzed using inductive content analysis. Participants acknowledged the potential of genomics in NBS to improve early detection, diagnosis, and treatment. However, they more often highlighted potential risks of genomics in NBS, and the broader technical and implementation challenges to the health system. Perspectives varied on whether genomic NBS should align with Australia’s current NBS paradigm, focusing on severe, treatable, early-onset conditions, or whether wider potential uses of genomic NBS data (such as later clinical uses) should drive a ‘paradigm shift’ in policy that values benefits beyond newborn screening. Respondents reported that effective implementation of genomic NBS will require adequate health system readiness, which will require national program coordination, adequate consent, an agreed ethical approach to reporting uncertain or non-actionable results, enhanced workforce capacity, enhanced laboratory and data infrastructure, equitable access to downstream health services, and ethically and legally agreed uses of the genomic data. Findings offer insights for Australia and other countries considering the use of genomics in NBS programs.