评估医生对实施病理支持基因检测的准备:解决方案驱动的covid -19后调查。

IF 2.8 3区 生物学 Q2 GENETICS & HEREDITY
Frontiers in Genetics Pub Date : 2025-03-21 eCollection Date: 2025-01-01 DOI:10.3389/fgene.2025.1543056
Elouise E Kroon, Yolandi Swart, Chantelle J Scott, Denise Scholtz, Daniel W Olivier, Kelebogile E Moremi, Chantelle Venter, Maxine Waters, Sunday O Oladejo, Craig J Kinnear, Etheresia Pretorius, Kanshukan Rajaratnam, Desiree C Petersen, Marlo Möller, Maritha J Kotze
{"title":"评估医生对实施病理支持基因检测的准备:解决方案驱动的covid -19后调查。","authors":"Elouise E Kroon, Yolandi Swart, Chantelle J Scott, Denise Scholtz, Daniel W Olivier, Kelebogile E Moremi, Chantelle Venter, Maxine Waters, Sunday O Oladejo, Craig J Kinnear, Etheresia Pretorius, Kanshukan Rajaratnam, Desiree C Petersen, Marlo Möller, Maritha J Kotze","doi":"10.3389/fgene.2025.1543056","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>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.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1543056"},"PeriodicalIF":2.8000,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970434/pdf/","citationCount":"0","resultStr":"{\"title\":\"Assessment of physician preparedness for implementation of pathology-supported genetic testing: solution-driven post-COVID-19 survey.\",\"authors\":\"Elouise E Kroon, Yolandi Swart, Chantelle J Scott, Denise Scholtz, Daniel W Olivier, Kelebogile E Moremi, Chantelle Venter, Maxine Waters, Sunday O Oladejo, Craig J Kinnear, Etheresia Pretorius, Kanshukan Rajaratnam, Desiree C Petersen, Marlo Möller, Maritha J Kotze\",\"doi\":\"10.3389/fgene.2025.1543056\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>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.</p>\",\"PeriodicalId\":12750,\"journal\":{\"name\":\"Frontiers in Genetics\",\"volume\":\"16 \",\"pages\":\"1543056\"},\"PeriodicalIF\":2.8000,\"publicationDate\":\"2025-03-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970434/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Frontiers in Genetics\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.3389/fgene.2025.1543056\",\"RegionNum\":3,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3389/fgene.2025.1543056","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

摘要

导言: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长期缺乏了解的问题,我们在 2010 年进行的临床医生需求评估的启发指导下,实施了病理学支持的基因检测(PSGT)方法:方法:利用之前临床医生调查的结果开发了一种新的患者筛查工具,该工具整合了非传染性疾病 (NCD) 和后 COVID-19 护理路径。在应用该解决方案对不同治疗组的患者进行分层的同时,还对原始调查问卷进行了更新,以重新评估医护人员应用 PSGT 的知识和意愿:36 名受访者于 2022 年 10 月完成了修订版需求评估调查,当时他们正在南非斯坦陵布什大学参加年度全科医生大会的基因组学会议。近 89% 的受访者表示没有足够的知识提供基因检测;80% 的受访者支持使用 PSGT 来区分遗传性非传染性疾病和与生活方式或治疗相关的非传染性疾病,83.3% 的受访者支持将健康筛查与基因检测相结合,以识别高风险人群:看来,虽然临床医生有兴趣学习基因组学知识,但他们仍然表示在这一领域存在严重的知识缺陷,这突出表明需要对临床医生进行有针对性的培训,并使用多学科 NCD-COVID 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了一份基因组咨询报告,为选择长COVID患者进行疾病和健康领域的全基因组测序提供了指导。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Assessment of physician preparedness for implementation of pathology-supported genetic testing: solution-driven post-COVID-19 survey.

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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Frontiers in Genetics
Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
5.50
自引率
8.10%
发文量
3491
审稿时长
14 weeks
期刊介绍: Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信