Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits and Preferences for Implementation

Fiona Lynch
ORCID logo ,
Stephanie Best
,
Clara Gaff
,
Lilian Downie
,
Alison D. Archibald
ORCID logo ,
Christopher Gyngell
,
Ilias Goranitis
,
Riccarda Peters
,
Julian Savulescu
,
Sebastian Lunke
,
Zornitza Stark
ORCID logo ,
Danya F Vears
* ORCID logo
Version 1 : Received: 15 November 2023 / Approved: 16 November 2023 / Online: 16 November 2023 (10:29:57 CET)

A peer-reviewed article of this Preprint also exists.

Lynch, F.; Best, S.; Gaff, C.; Downie, L.; Archibald, A.D.; Gyngell, C.; Goranitis, I.; Peters, R.; Savulescu, J.; Lunke, S.; Stark, Z.; Vears, D.F. Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. Int. J. Neonatal Screen. 2024, 10, 6. Lynch, F.; Best, S.; Gaff, C.; Downie, L.; Archibald, A.D.; Gyngell, C.; Goranitis, I.; Peters, R.; Savulescu, J.; Lunke, S.; Stark, Z.; Vears, D.F. Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation. Int. J. Neonatal Screen. 2024, 10, 6.

Abstract

Recent dramatic reductions in the timeframe in which genomic sequencing can deliver results means its application in time-sensitive screening programs such as newborn screening (NBS) is becoming a reality. As genomic NBS (gNBS) programs are developed around the world, there is an increasing need to address the ethical and social issues that such initiatives raise. This study therefore aimed to explore the Australian public’s perspectives and values regarding key gNBS characteristics and preferences for service delivery. We recruited English-speaking members of the Australian public over 18 years of age via social media; 75 people aged 23-72 participated in one of 15 focus groups. Participants were generally supportive of introducing genomic sequencing into newborn screening, with several stating that adoption of such revolutionary and beneficial technology was a moral obligation. Participants consistently highlighted receiving an early diagnosis as the leading benefit, which was frequently linked to the potential for early treatment and intervention, or access to other forms of assistance, such as peer support. Informing parents about the test during pregnancy was considered important. This study provides insights into the Australian public’s views and preferences to inform the delivery of a gNBS program in the Australian context.

Keywords

newborn screening; bioethics; genomic sequencing; qualitative; public views

Subject

Public Health and Healthcare, Public Health and Health Services

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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