Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants

• DOI: 10.1038/s41431-025-01816-x
• Publication Date: 2025-02-27T01:59:41Z
• Authors: David E. Goldsbury; Yoon-Jung Kang; Catherine Tang; Hamzeh M. Tanha; Amelia K. Smit; Kate L. A. Dunlop; Lara Petelin; Preston Ngo; Harriet Hui; Nicola S. Meagher; Melissa A. Merritt; Marianne Weber; Anna DeFazio; Anne E. Cust; Karen Canfell; Julia Steinberg

Abstract With increasing availability of genetic tests, it is important to consider differences in testing patterns between population subgroups. We examined self-reported genetic testing among 45,061 participants of the Australian population-based 45 and Up Study, testing for associations with sociodemographic and health characteristics (multivariable logistic regression). 9.2% of participants reported ever having genetic testing; 3.9% reported disease-related testing, 5.2% non-disease-related testing, 0.7% both disease-related and non-disease-related testing. Disease-related genetic testing was strongly associated with younger age, female sex, history of cancers and cardiovascular disease, and cancer family history. Disease-related testing was also strongly associated with higher education (university versus school certificate: adjusted OR [aOR] = 1.50 [95%CI:1.29–1.75]; certificate/diploma versus school certificate: aOR = 1.40 [95%CI:1.20–1.63]); there was suggestive evidence for association with higher household income ($AUD90,000+ versus <$AUD30,000: aOR = 1.22 [95%CI:1.02–1.46]), which strengthened when not adjusting for education (aOR = 1.34 [95%CI:1.13–1.60]). These results suggest further work on ensuring equitable access is needed to prevent potential health inequities.