The purpose of this study was to examine the trends in who obtains genetic tests, and opinions about how genes affect health. Cross-sectional survey data from Health Information National Trends Survey (HINTS) 5, Cycle 4 was used. This data was collected from adults 18 years of age or older who completed mailed surveys sent by the National Cancer Institute between January and April 2020. The sample consisted of 2,947 respondents who answered the question 'Have you ever had a genetic test'? 727 had a test and 2,220 did not have a test. The measures used included survey questions that asked whether respondents obtained certain kinds of genetic tests, who they shared test results with, whether they believed genes affect health status, and their demographic and cancer status information. Multivariate logistic regression models were developed to assess which demographic variables were associated with having different kinds of genetic tests, and whether those who had genetic tests had different opinions about genetic testing and the influence of genes on health. We found that female respondents [OR: 1.9; CI: (1.2-3.1)] had higher odds of having any genetic tests while Hispanic [OR: 0.5; CI: (0.2-1.0)] respondents had lower odds. Our findings indicate that there are demographic disparities in who received genetic tests, and that cancer risk alone does not explain the differences in prevalence of genetic testing.
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http://dx.doi.org/10.1002/jgc4.1620 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Department of Biology, University of Kentucky, Lexington, KY 40508.
Identifying why complex tissue regeneration is present or absent in specific vertebrate lineages has remained elusive. One also wonders whether the isolated examples where regeneration is observed represent cases of convergent evolution or are instead the product of phylogenetic inertia from a common ancestral program. Testing alternative hypotheses to identify genetic regulation, cell states, and tissue physiology that explain how regenerative healing emerges in some species requires sampling multiple species among which there is variation in regenerative ability across a phylogenetic framework.
View Article and Find Full Text PDFPLoS Genet
January 2025
Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
Understanding the genetic regulatory mechanisms of gene expression is an ongoing challenge. Genetic variants that are associated with expression levels are readily identified when they are proximal to the gene (i.e.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Endoscopy, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
This study enrolled 10 patients diagnosed with premalignant lesions and early-stage gastric cardia adenocarcinoma (GCA), confirmed through endoscopic examination. These patients were subjected to next-generation sequencing (NGS) using a customized 1123-gene panel to identify genetic alterations and signaling pathways. The results were compared to stage IIB to IV GCA samples from the cancer genome atlas (TCGA) and a cohort of Hong Kong patients.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Department of Pathology, Deyang Peoples' Hospital, Deyang, Sichuan Province, China.
Rationale: Ependymomas are commonly prevalent intramedullary neoplasms in adults, with hardly any cases of exophytic extramedullary ependymoma being reported. Meningiomas, on the contrary, are one of the most common intradural extramedullary (IDEM) tumors. However, the occurrence of both IDEM tumors simultaneously is extremely rare.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2025
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.
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