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Australian public perspectives on genomic newborn screening: which conditions should be included?
Lynch, Fiona; Best, Stephanie; Gaff, Clara; Downie, Lilian; Archibald, Alison D; Gyngell, Christopher; Goranitis, Ilias; Peters, Riccarda; Savulescu, Julian; Lunke, Sebastian; Stark, Zornitza; Vears, Danya F.
Afiliação
  • Lynch F; Biomedical Ethics Research Group, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
  • Best S; Melbourne Law School, The University of Melbourne, Melbourne, VIC, 3052, Australia.
  • Gaff C; Sir Peter MacCallum Cancer Centre Dept of Oncology, University of Melbourne, Melbourne, VIC, 3052, Australia.
  • Downie L; Australian Genomics, Melbourne, VIC, 3052, Australia.
  • Archibald AD; School of Health Sciences, University of Melbourne, Melbourne, VIC, 3052, Australia.
  • Gyngell C; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
  • Goranitis I; Melbourne Genomics, Melbourne, VIC, 3052, Australia.
  • Peters R; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC, 3052, Australia.
  • Savulescu J; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
  • Lunke S; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC, 3052, Australia.
  • Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
  • Vears DF; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
Hum Genomics ; 18(1): 45, 2024 May 08.
Article em En | MEDLINE | ID: mdl-38720401
ABSTRACT

BACKGROUND:

Implementing genomic sequencing into newborn screening programs allows for significant expansion in the number and scope of conditions detected. We sought to explore public preferences and perspectives on which conditions to include in genomic newborn screening (gNBS).

METHODS:

We recruited English-speaking members of the Australian public over 18 years of age, using social media, and invited them to participate in online focus groups.

RESULTS:

Seventy-five members of the public aged 23-72 participated in one of fifteen focus groups. Participants agreed that if prioritisation of conditions was necessary, childhood-onset conditions were more important to include than later-onset conditions. Despite the purpose of the focus groups being to elicit public preferences, participants wanted to defer to others, such as health professionals or those with a lived experience of each condition, to make decisions about which conditions to include. Many participants saw benefit in including conditions with no available treatment. Participants agreed that gNBS should be fully publicly funded.

CONCLUSION:

How many and which conditions are included in a gNBS program will be a complex decision requiring detailed assessment of benefits and costs alongside public and professional engagement. Our study provides support for implementing gNBS for treatable childhood-onset conditions.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal Limite: Adult / Aged / Female / Humans / Male / Middle aged / Newborn País/Região como assunto: Oceania Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triagem Neonatal Limite: Adult / Aged / Female / Humans / Male / Middle aged / Newborn País/Região como assunto: Oceania Idioma: En Ano de publicação: 2024 Tipo de documento: Article