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将临床遗传学融入心脏病学:当前的实践和教育建议。

Integrating clinical genetics in cardiology: Current practices and recommendations for education.

机构信息

Department of Communication Studies, School of Communication, Northwestern University, Evanston, IL.

Department of Communication Studies, School of Communication, Northwestern University, Evanston, IL.

出版信息

Genet Med. 2022 May;24(5):1054-1061. doi: 10.1016/j.gim.2022.02.003. Epub 2022 Mar 24.

Abstract

PURPOSE

Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing.

METHODS

Qualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts.

RESULTS

Participants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts' importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result.

CONCLUSION

Participants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings.

摘要

目的

遗传学的最新进展可以帮助鉴定高危个体并诊断心血管疾病。作为一个新兴领域,需要更多的研究来优化心血管遗传学的临床实践,包括评估教育需求以促进遗传检测的合理使用。

方法

对心血管专家(N=43)进行了定性访谈,并对专业记录进行了主题分析。

结果

参与者认识到遗传学在识别和诊断高危个体方面的价值。但是,组织系统、成本和准备不足的感觉被认为是障碍。参与者认为遗传科学的快速发展进一步挑战了维持足够知识基础的能力,并强调了遗传专家的重要性。即使有遗传专家可用,参与者也希望更多地了解哪些患者最受益于基因检测,并表示希望更好地了解与阳性检测结果相关的管理建议。

结论

参与者认识到基因检测的好处,但感到准备不足,无法为基因检测提供建议,在某些情况下,缺乏将患者转介给遗传专家的组织资源。对心脏病学从业者进行更多的遗传学培训,并确保遗传专家的可用性,可以提高遗传学在心脏病学环境中的应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a18/9991006/57e90fa3f101/nihms-1878860-f0001.jpg

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