In order to plan and facilitate the culture of personalized / precision medicine in medical practices within any healthcare institution, it is requisite for healthcare professionals like clinicians to have a clear understanding and approach towards the practices of personalized genetic testing. This nationwide cross-sectional study aimed to measure the perceptions and knowledge of clinicians towards personalized genetic testing and assess their current practices of personalized genetic testing in clinical settings through an online self-administered questionnaire in Saudi Arabia. The results of the study revealed that almost two-fifths of participants were responsible for ordering genetic tests directly (39.0%). The main concerns of the participants were the lack of clinical practice guidelines on personalized genetic tests (50.0%) and the cost of these tests (50.9%). The participants revealed that the genetic tests had influenced the patients' treatment plans (50.0%) and helped them understand the risks of their patients' disorders (52.3%). The study revealed a gap in understanding and implementing personalized genetic testing in Saudi Arabia, with enthusiasm tempered by challenges like insufficient knowledge, lack of guidelines, and practical applications' barriers. Effective integration of genetic testing into clinical practice should focus on enhancing medical education, developing clinical guidelines, and improving patient awareness about genetic tests that can lead to an improved personalized healthcare approach.
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http://dx.doi.org/10.1038/s41598-024-82453-0 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11686357 | PMC |
Planta
January 2025
ICAR-National Institute for Plant Biotechnology, New Delhi, 110012, Delhi, India.
Small RNA sequencing analysis in two chickpea genotypes, JG 62 (Fusarium wilt-susceptible) and WR 315 (Fusarium wilt-resistant), under Fusarium wilt stress led to identification of 544 miRNAs which included 406 known and 138 novel miRNAs. A total of 115 miRNAs showed differential expression in both the genotypes across different combinations. A miRNA, Car-miR398 targeted copper chaperone for superoxide dismutase (CCS) that, in turn, regulated superoxide dismutase (SOD) activity during chickpea-Foc interaction.
View Article and Find Full Text PDFJ Neural Transm (Vienna)
January 2025
Neurology Department, LR18SP03, Razi University Hospital, Tunis, Tunisia.
Amyotrophic Lateral Sclerosis(ALS) has traditionally been managed as a neuromuscular disorder. However, recent evidence suggests involvement of non-motor domains. This study aims to evaluate the impact of APOE and MAPT genotypes on the cognitive features of ALS.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of Pennsylvania, Philadelphia, PA, USA.
Background: Alzheimer's disease (AD), characterized by significant brain volume reduction, is influenced by genetic predispositions related to brain volumetric phenotypes. While genome-wide association studies (GWASs) have linked brain imaging-derived phenotypes (IDPs) with AD, existing polygenic risk scores (PRSs) based models inadequately capture this relationship. We develop BrainNetScore, a network-based model enhancing AD risk prediction by integrating genetic associations between multiple brain IDPs and AD incidence.
View Article and Find Full Text PDFBackground: Single-nucleus RNA sequencing (snRNAseq) allows for the dissection of the cell type-specific transcriptional profiles of tissue specimens. In this study, we compared gene expression in multiple brain cell types in brain tissue from Alzheimer disease (AD) cases with no or other co-existing pathologies including Lewy body disease (LBD) and vascular disease (VaD).
Method: We evaluated differential gene expression measured from single nucleus RNA sequencing (snRNAseq) data generated from the hippocampus region tissue donated by 11 BU ADRC participants with neuropathologically confirmed AD with or without a co-existing pathology (AD-only = 3, AD+VaD = 6, AD+LBD = 2).
Alzheimers Dement
December 2024
Boston University Alzheimer's Disease Research Center, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
Background: Alzheimer's disease (AD) has both genetic and environmental risk factors. Gene-environment interaction may help explain some missing heritability. There is strong evidence for cigarette smoking as a risk factor for AD.
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