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南非临床医生对用于心血管疾病风险分层的精准医学工具的看法。

Clinicians' Perceptions towards Precision Medicine Tools for Cardiovascular Disease Risk Stratification in South Africa.

作者信息

Kamp Michelle, Pain Oliver, May Andrew, Lewis Cathryn M, Ramsay Michèle

机构信息

Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand, Johannesburg 2001, South Africa.

Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.

出版信息

J Pers Med. 2022 Aug 24;12(9):1360. doi: 10.3390/jpm12091360.

Abstract

Cardiovascular diseases (CVDs) are a leading cause of mortality and morbidity in South Africa. Risk stratification is the preferred approach to disease prevention, but identifying patients at high risk for CVD remains challenging. Assessing genetic risk could improve stratification and inform a clinically relevant precision medicine (PM) approach. Clinicians are critical to PM adoption, thus, this study explores practicing clinicians’ perceptions of PM-based CVD risk stratification in South Africa’s public health setting. Practicing clinicians (n = 109) at four teaching hospitals in Johannesburg, South Africa, completed an electronic self-administered survey. The effect of demographic and professional characteristics on PM-based CVD risk stratification perceptions was assessed. Fewer than 25% of respondents used clinical genetic testing, and 14% had formal genetics training. 78% had a low mean knowledge score, with higher scores associated with genetic training (p < 0.0005) and research involvement (p < 0.05). Despite limited knowledge and resources, 84% perceived PM approaches positively. 57% felt confident in applying the PM-based approach, with those already undertaking CVD risk stratification more confident (p < 0.001). High cost and limited access to genetics services are key barriers. Integrating genetic information into established clinical tools will likely increase confidence in using PM approaches. Addressing the genetics training gap and investment into the country’s genomics capacity is needed to advance PM in South Africa.

摘要

心血管疾病(CVDs)是南非死亡和发病的主要原因。风险分层是疾病预防的首选方法,但识别心血管疾病高危患者仍然具有挑战性。评估遗传风险可以改善分层,并为临床相关的精准医学(PM)方法提供依据。临床医生对于采用精准医学至关重要,因此,本研究探讨了南非公共卫生环境中执业临床医生对基于精准医学的心血管疾病风险分层的看法。南非约翰内斯堡四家教学医院的执业临床医生(n = 109)完成了一项电子自填式调查。评估了人口统计学和专业特征对基于精准医学的心血管疾病风险分层认知的影响。不到25%的受访者使用临床基因检测,14%接受过正规遗传学培训。78%的受访者平均知识得分较低,得分较高与基因培训(p < 0.0005)和参与研究(p < 0.05)相关。尽管知识和资源有限,但84%的受访者对精准医学方法持积极看法。57%的人对应用基于精准医学的方法有信心,那些已经进行心血管疾病风险分层的人更有信心(p < 0.001)。高成本和遗传学服务获取受限是关键障碍。将遗传信息整合到既定的临床工具中可能会增加对使用精准医学方法的信心。为了在南非推进精准医学,需要解决遗传学培训差距并对该国的基因组学能力进行投资。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41d9/9505828/3cef159fa78d/jpm-12-01360-g001.jpg

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