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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.
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http://dx.doi.org/10.1038/s41431-025-01816-x | DOI Listing |
Genet Med
September 2025
Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.
Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.
Eur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
View Article and Find Full Text PDFEur Heart J Case Rep
September 2025
Feinberg School of Medicine, Northwestern University, 303E Chicago Ave, Ward 1-003, Chicago, IL 60611, USA.
Background: Cardiac laminopathies, associated with mutations in the LMNA gene, are a rare inherited disorder characterized by a broad range of clinical manifestations. There are currently no data on the association between supraventricular re-entrant tachycardias and LMNA-related cardiomyopathy.
Case Summary: A 26-year-old male presented with either wide-QRS tachycardia with a left bundle branch block (LBBB) pattern or narrow QRS tachycardia, as well as a history of palpitations since age 15.
Front Microbiol
August 2025
Guangxi Key Laboratory of Aquatic Genetic Breeding and Healthy Aquaculture, Guangxi Academy of Fishery Science, Nanning, Guangxi, China.
A bacterial strain (No. 20230510) was isolated from the kidneys of diseased in Guangxi, China, since 2023. Artificial infection experiments demonstrated that this strain caused the observed disease in .
View Article and Find Full Text PDFCongenital dyserythropoietic anemia type III (CDA III) is an extremely rare inherited disorder characterized by ineffective erythropoiesis, multinucleated erythroblasts in the bone marrow, and variable clinical gravity. We report the case of a 6-year-old boy, presenting with abdominal distension, failure to thrive, dark urine, intermittent itching, and recurrent infections. Physical examination revealed pallor, hepatomegaly, and splenomegaly.
View Article and Find Full Text PDF