AUTHOR=Casauria Sarah , Lewis Sharon , Lynch Fiona , Saffery Richard 

TITLE=Australian parental perceptions of genomic newborn screening for non-communicable diseases

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1209762

DOI=10.3389/fgene.2023.1209762

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> Newborn bloodspot screening (NBS) programs have improved neonatal healthcare since the 1960s. Genomic sequencing now offers potential to generate polygenic risk score (PRS) that could be incorporated into NBS programs, shifting the focus from treatment to prevention of future noncommunicable disease (NCD). However, Australian parents’ knowledge and attitudes regarding PRS for NBS is currently unknown.</p><p><bold>Methods:</bold> Parents with at least one Australian-born child under 18 years were invited via social media platforms to complete an online questionnaire aimed at examining parents’ knowledge of NCDs, PRS, and precision medicine, their opinions on receiving PRS for their child, and considerations of early-intervention strategies to prevent the onset of disease.</p><p><bold>Results:</bold> Of 126 participants, 90.5% had heard the term “non-communicable disease or chronic condition,” but only 31.8% and 34.4% were aware of the terms “polygenic risk score” and “precision medicine” respectively. A large proportion of participants said they would consider screening their newborn to receive a PRS for allergies (77.9%), asthma (81.0%), cancer (64.8%), cardiovascular disease (65.7%), mental illness (56.7%), obesity (49.5%), and type 2 diabetes (66.7%). Additionally, participants would primarily consider diet and exercise as interventions for specific NCDs.</p><p><bold>Discussion:</bold> The results from this study will inform future policy for genomic NBS, including expected rate of uptake and interventions that parents would consider employing to prevent the onset of disease.</p>