How parents decide whether to have genomic newborn screening: experiences from BabyScreen+

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Authors: Anaita Kanga‐Parabia, Erin Tutty, Nathasha Kugenthiran, Jade Caruana, Lilian Downie, Clara Gaff, Nitzan Lang, Sebastian Lunke, Katrina L. Scarff, Zornitza Stark, Stephanie Best, Alison D. Archibald
Cited by: 1
References: 32

Abstract

Education and consent processes for genomic newborn screening (gNBS) must be informed by evidence about parental decision-making. BabyScreen+ piloted gNBS for 1000 newborns in Victoria, Australia. Prospective parents consented online with genetic counselling available on request. We aimed to explore how BabyScreen+ participants (n = 1139) made decisions about gNBS using a convergent parallel mixed methods design. Demographic (n = 1080), survey (n = 1010), and interview (n = 24) data were analysed using descriptive statistics, logistic regression, and deductive content analysis mapped to the Health Belief Model (domains indicated in italics). Most participants perceived low susceptibility of having a child with a genetic condition and found it difficult to conceptualise severity. Participants were motivated to consider gNBS due to benefits such as information about their child's health, reassurance, and research contributions. Some perceived barriers included inequitable access to gNBS information, difficulty navigating high chance results, and potential data misuse. Most participants (987/1139, 87%) proceeded with gNBS because they believed barriers were outweighed by benefits or were manageable due to high self-efficacy. Remaining participants (152/1139, 13%) did not proceed with gNBS because benefits were unclear, or due to low self-efficacy. Experiences were modified by sociodemographic factors and the BabyScreen+ model of care. This research provides timely evidence about parental gNBS decision-making. It supports acceptability and feasibility of the BabyScreen+ model of care. Moving forward, education and consent processes must be equitable, tailored to individual context, and designed to foster self-efficacy. Such considerations will support decision-making and reduce psychological impacts for parents considering gNBS in the future.

Fields of Study & Subjects

Genomics and Rare Diseases BRCA gene mutations in cancer Metabolism and Genetic Disorders

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Publication date
26 June 2026
Language
EN