Little is known about the lay public's awareness and attitudes concerning genetic testing and what factors influence their perspectives. The existing literature focuses mainly on ethnic and socioeconomic differences; however, here we focus on how awareness and attitudes regarding genetic testing differ by geographical regions in the US. We compared awareness and attitudes concerning genetic testing for disease risk and ancestry among 452 adults (41% Black and 67% female) in four major US cities, Norman, OK; Cincinnati, OH; Harlem, NY; and Washington, DC; prior to their participation in genetic ancestry testing. The OK participants reported more detail about their personal ancestries (p = 0.02) and valued ancestry testing over disease testing more than all other sites (p < 0.01). The NY participants were more likely than other sites to seek genetic testing for disease (p = 0.01) and to see benefit in finding out more about one's ancestry (p = 0.02), while the DC participants reported reading and hearing more about genetic testing for African ancestry than all other sites (p < 0.01). These site differences were not better accounted for by sex, age, education, self-reported ethnicity, religion, or previous experience with genetic testing/counseling. Regional differences in awareness and attitudes transcend traditional demographic predictors, such as ethnicity, age and education. Local sociocultural factors, more than ethnicity and socioeconomic status, may influence the public's awareness and belief systems, particularly with respect to genetics.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2940428 | PMC |
http://dx.doi.org/10.1007/s00439-010-0845-0 | DOI Listing |
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Genet Epidemiol
January 2025
Department of Biostatistics, University of Washington, Seattle, Washington, USA.
Integrating multi-omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi-omics data and use them to address pressing scientific questions remain a challenge. One important and topical problem is how to assess the aggregate effect of multiple genomic data types (e.
View Article and Find Full Text PDFGenet Epidemiol
January 2025
Centre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, Division of Musculoskeletal and Dermatological Sciences, The University of Manchester, Manchester, UK.
Transcriptome-wide association studies (TWAS) investigate the links between genetically regulated gene expression and complex traits. TWAS involves imputing gene expression using expression quantitative trait loci (eQTL) as predictors and testing the association between the imputed expression and the trait. The effectiveness of TWAS depends on the accuracy of these imputation models, which require genotype and gene expression data from the same samples.
View Article and Find Full Text PDFInt J Gynaecol Obstet
January 2025
Robinson Research Institute, University of Adelaide, Adelaide, Australia.
Fertility preservation services must offer information to patients, prior to their visit, so that they have time to read and digest the information, and also have the opportunity to write down any questions they wish to ask at the oncofertility consultation appointment. Appointments must be offered immediately, based on a specifically designed referral form. Each fertility service providing oncology cryopreservation should have a robust map of the patient's journey to include referral, counseling session, medical consultation, informed consent, treatment plan, and follow-up.
View Article and Find Full Text PDFCancer Med
January 2025
Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.
Background: In the UK's National Health Service (NHS), there is specific psychosocial care offered to people with genetic cancer risk conditions but not morphological cancer risk conditions. As researchers develop new ways to diagnose morphological risk conditions, including precancers and in situ cancers, it is important to consider the psychosocial care that those diagnosed might require.
Objectives: This study compares the National Institute for Health and Care Excellence's guidelines for BRCA1/2, which are genetic risk conditions, and Barrett's oesophagus (BO), a morphological risk condition.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!