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沙特阿拉伯一项旨在评估临床医生对个性化基因检测的理解与实践的全国性横断面研究。

A nationwide cross-sectional study in Saudi Arabia for the assessment of understanding and practices of clinicians towards personalized genetic testing.

作者信息

Uddin Mohy, Deeb Ahmad, Ardah Husam, Nashbat Marwan, Ayoub Mohammad Yahya, Alfadhel Majid

机构信息

Research Quality Management Department, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

Faculty of Nursing, Memorial University of Newfoundland, St. John's, Canada.

出版信息

Sci Rep. 2024 Dec 30;14(1):31748. doi: 10.1038/s41598-024-82453-0.

Abstract

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.

摘要

为了在任何医疗机构的医疗实践中规划和促进个性化/精准医学的发展,临床医生等医疗专业人员必须对个性化基因检测的实践有清晰的理解和方法。这项全国性横断面研究旨在通过在沙特阿拉伯进行的一项在线自填问卷,衡量临床医生对个性化基因检测的认知和知识,并评估他们在临床环境中进行个性化基因检测的当前实践。研究结果显示,近五分之二的参与者直接负责订购基因检测(39.0%)。参与者主要关注的是缺乏个性化基因检测的临床实践指南(50.0%)以及这些检测的成本(50.9%)。参与者表示,基因检测影响了患者的治疗计划(50.0%),并帮助他们了解患者疾病的风险(52.3%)。该研究揭示了沙特阿拉伯在理解和实施个性化基因检测方面存在差距,知识不足、缺乏指南和实际应用障碍等挑战削弱了人们的热情。将基因检测有效整合到临床实践中应侧重于加强医学教育、制定临床指南以及提高患者对基因检测的认识,这可以带来改进的个性化医疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5408/11686357/a2194d7defc2/41598_2024_82453_Fig1_HTML.jpg

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