Australian parents’ perspectives on extended genomic screening: what information to return and when?
Rattachement africain : au, sg, gb. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Genomic newborn screening (gNBS) has the potential to generate information that remains relevant across the lifespan, yet little is known about how families who have directly experienced gNBS, understand its long-term role and value. This study analysed the results of eight focus groups with 32 parents whose children had received findings from gNBS (through the BabyScreen+ study, a population-based Australian gNBS pilot programme), to explore how they conceptualise the use of genomic information beyond infancy (which we refer to as extended genomic sequencing, or eGS). Parents described a complex interplay of factors including treatability, severity, certainty, and personal capacity to manage information that shaped their desire to receive results. Using the Health Belief Model as a lens, we show how parental reflections mapped to constructs such as perceived benefits, barriers, severity, susceptibility, self-efficacy, and cues to action. However, parents' reasoning was dynamic rather than static, illustrating how shifts in clinical options or family circumstances influence decision making over time. Overall, our findings demonstrate that families view gNBS data as a potential lifetime resource and support the need for flexible consent pathways, ongoing counselling, and governance frameworks that anticipate both the benefits and burdens of genomic information. This work offers timely insights to inform ethical implementation of eGS in Australia and contributes to international discussions about integrating genomic sequencing into population-level screening.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Australian parents’ perspectives on extended genomic screening: what information to return and when?
- Date Crossref
- 27/06/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
-
Deakin University pays non établi dans la noticeUniversité ou école supérieure
-
The University of Melbourne pays non établi dans la noticeUniversité ou école supérieure
-
Murdoch Children's Research Institute pays non établi dans la noticeOrganisation à but non lucratif
-
Peter MacCallum Cancer Centre pays non établi dans la noticeÉtablissement de santé
-
Melbourne Genomics Health Alliance pays non établi dans la noticeOrganisation à but non lucratif
-
Australian Genomics Health Alliance pays non établi dans la noticeOrganisation à but non lucratif
-
Victorian Clinical Genetics Services pays non établi dans la noticeStructure de recherche
-
National University of Singapore pays non établi dans la noticeUniversité ou école supérieure
-
University of Oxford Oxford Uehiro Centre for Practical Ethics pays non établi dans la noticeUniversité ou école supérieure
-
Wellcome Centre for Ethics and Humanities pays non établi dans la noticeStructure de recherche
-
School of Medicine Centre for Biomedical Ethics pays non établi dans la noticeUniversité ou école supérieure
-
Department of Health Services Research pays non établi dans la noticeInstitution
Deakin University, The University of Melbourne et Murdoch Children's Research Institute, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.