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Background <p>Newborn screening (NBS) and its genetic version, genetic NBS (gNBS), are now used to identify a broad range of conditions, including metabolic, endocrine, and genetic disorders, leading to significant reductions in infant mortality and long-term complications. Advances in genomic technologies, particularly next-generation sequencing, have enhanced the ability to detect rare diseases early, using gNBS, improving long-term outcomes. The availability and scope of gNBS vary across countries, influenced by national policies and technological advancements. This systematic literature review aims to clarify the specific barriers, opportunities, and more general attitudes that stakeholders express about gNBS for rare diseases.</p> Main <p>We extracted articles from 2010 to 2022. We followed the PRISMA guidelines and registered the review via PROSPERO (CRD42022297678). From an initial retrieval of 4519 records, two selection rounds resulted in a final list of 112 articles, which were assessed across different categories exploring various aspects of gNBS. The most important perceived opportunities in gNBS were the benefits of early intervention to reduce the burden of the diagnostic odyssey. The main identified barriers included three key codes: the stress and risk associated with false results and dealing with uncertainty (<i>n</i> = 25), the psychosocial implications (<i>n</i> = 26), and misunderstandings due to lack of education or communication. The majority of respondents expressed positive views, particularly regarding actionability.</p> Conclusion <p>The results indicate a generally favourable attitude toward newborn screening, with subtle variations in viewpoints. Our findings on these themes can specifically inform how final attitudes are shaped based on particular aspects.</p>

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Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022

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  • 发表日期：

    2026年1月8日

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  • Sylvia Martin,
  • Gergana Kyosovska-Peshtenska,
  • Jennifer Audi,
  • Kaja Zarakowska,
  • Åsa Grauman,
  • Jorien Veldwijk,
  • Brett Hauber,
  • Joshua Coulter,
  • Aileen Fürer,
  • Alexandra Wagner,
  • Aneta Piperkova,
  • Edith Sky Gross,
  • Ferdinand Knieling,
  • Gulcin Gumus,
  • Marek Zak,
  • Maria Martinez-Fresno,
  • Alicia Granados,
  • Stefaan Sansen,
  • Yuen Man,
  • Janbernd Kirschner,
  • Lucia Pia Bruno,
  • Enrico Silvio Bertini,
  • Silvia Ottombrino,
  • Antonio Novelli,
  • Emanuele Agolini,
  • Sandra Courbier,
  • Nicolas Garnier,
  • Tsungai Jackson,
  • Branimir Velinov,
  • Jessie Dubief,
  • Roman Raming,
  • Christina Saier,
  • Fernanda Fortunato,
  • Vera Frankova,
  • Mats Hansson

摘要

Background

Newborn screening (NBS) and its genetic version, genetic NBS (gNBS), are now used to identify a broad range of conditions, including metabolic, endocrine, and genetic disorders, leading to significant reductions in infant mortality and long-term complications. Advances in genomic technologies, particularly next-generation sequencing, have enhanced the ability to detect rare diseases early, using gNBS, improving long-term outcomes. The availability and scope of gNBS vary across countries, influenced by national policies and technological advancements. This systematic literature review aims to clarify the specific barriers, opportunities, and more general attitudes that stakeholders express about gNBS for rare diseases.

Main

We extracted articles from 2010 to 2022. We followed the PRISMA guidelines and registered the review via PROSPERO (CRD42022297678). From an initial retrieval of 4519 records, two selection rounds resulted in a final list of 112 articles, which were assessed across different categories exploring various aspects of gNBS. The most important perceived opportunities in gNBS were the benefits of early intervention to reduce the burden of the diagnostic odyssey. The main identified barriers included three key codes: the stress and risk associated with false results and dealing with uncertainty (n = 25), the psychosocial implications (n = 26), and misunderstandings due to lack of education or communication. The majority of respondents expressed positive views, particularly regarding actionability.

Conclusion

The results indicate a generally favourable attitude toward newborn screening, with subtle variations in viewpoints. Our findings on these themes can specifically inform how final attitudes are shaped based on particular aspects.