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评估医生对实施病理学支持的基因检测的准备情况:后新冠疫情时期以解决方案为导向的调查。

Assessment of physician preparedness for implementation of pathology-supported genetic testing: solution-driven post-COVID-19 survey.

作者信息

Kroon Elouise E, Swart Yolandi, Scott Chantelle J, Scholtz Denise, Olivier Daniel W, Moremi Kelebogile E, Venter Chantelle, Waters Maxine, Oladejo Sunday O, Kinnear Craig J, Pretorius Etheresia, Rajaratnam Kanshukan, Petersen Desiree C, Möller Marlo, Kotze Maritha J

机构信息

South African Medical Research Council Centre for Tuberculosis Research, Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

Department of Pathology, Division of Chemical Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.

出版信息

Front Genet. 2025 Mar 21;16:1543056. doi: 10.3389/fgene.2025.1543056. eCollection 2025.

Abstract

INTRODUCTION

Rapid advances in personalized medicine and direct-to-consumer genomic applications could increase the risk that physicians will apply genomic results inappropriately. To address a persistent lack of understanding of genomics, we implemented a pathology-supported genetic testing (PSGT) approach, guided by insights from a clinician needs assessment conducted in 2010.

METHODS

Findings from the previous clinician survey were used to develop a new patient screening tool that integrates non-communicable disease (NCD) and post-COVID-19 care pathways. In parallel to the application of this solution for stratification of patients in different treatment groups, an updated version of the original survey questionnaire was used to reassess the knowledge and willingness of healthcare professionals to apply PSGT.

RESULTS

Thirty-six respondents completed the revised needs assessment survey in October 2022, while attending a genomics session at the Annual General Practitioner Congress, Stellenbosch University, South Africa. Nearly 89% of the respondents reported having insufficient knowledge to offer genetic testing; 80% were supportive of using PSGT to differentiate inherited from lifestyle- or therapy-associated NCDs and 83.3% supported integrating wellness screening with genetic testing to identify high-risk individuals.

DISCUSSION

It appears that while clinicians are interested in learning about genomics, they continue to report significant knowledge deficits in this area, highlighting the need for targeted clinician training and tools like multidisciplinary NCD-COVID pathway analysis to improve clinical decision-making. The co-development of a genomic counseling report for ongoing studies, guided the selection of Long COVID patients for whole-genome sequencing across the illness and wellness domains.

摘要

引言

个性化医疗和直接面向消费者的基因组应用的快速发展可能会增加医生不恰当地应用基因组结果的风险。为了解决对基因组学持续缺乏理解的问题,我们实施了一种病理学支持的基因检测(PSGT)方法,该方法以2010年进行的临床医生需求评估得出的见解为指导。

方法

先前临床医生调查的结果被用于开发一种新的患者筛查工具,该工具整合了非传染性疾病(NCD)和新冠后护理途径。在将此解决方案应用于对不同治疗组的患者进行分层的同时,使用原始调查问卷的更新版本重新评估医疗保健专业人员应用PSGT的知识和意愿。

结果

2022年10月,36名受访者在参加南非斯泰伦博斯大学年度全科医生大会的基因组学会议时完成了修订后的需求评估调查。近89%的受访者表示缺乏提供基因检测的知识;80%的人支持使用PSGT来区分遗传性非传染性疾病与生活方式或治疗相关的非传染性疾病,83.3%的人支持将健康筛查与基因检测相结合以识别高危个体。

讨论

虽然临床医生似乎有兴趣了解基因组学,但他们继续报告在这一领域存在重大知识缺陷,这突出表明需要有针对性的临床医生培训以及多学科非传染性疾病-新冠途径分析等工具来改善临床决策。为正在进行的研究共同开发一份基因组咨询报告,指导了对长新冠患者在疾病和健康领域进行全基因组测序的选择。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11ed/11970434/229676c782d1/fgene-16-1543056-g001.jpg

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