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
{"title":"澳大利亚与基因检测相关的社会人口学和健康因素:基于 45,061 名参与者的队列研究的启示。","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","doi":"10.1038/s41431-025-01816-x","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":" ","pages":""},"PeriodicalIF":3.7000,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants.\",\"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\",\"doi\":\"10.1038/s41431-025-01816-x\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":12016,\"journal\":{\"name\":\"European Journal of Human Genetics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2025-02-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Journal of Human Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1038/s41431-025-01816-x\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1038/s41431-025-01816-x","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants.
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.
期刊介绍:
The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.
Key areas include:
-Monogenic and multifactorial disorders
-Development and malformation
-Hereditary cancer
-Medical Genomics
-Gene mapping and functional studies
-Genotype-phenotype correlations
-Genetic variation and genome diversity
-Statistical and computational genetics
-Bioinformatics
-Advances in diagnostics
-Therapy and prevention
-Animal models
-Genetic services
-Community genetics