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对初级保健提供者对基因服务和基因教育态度的定性评估。

Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.

作者信息

Kenneson Aileen, Thornton Yasmin, Cole Chelsea, Iyer Sharanya, Rosen Ami R, Singh Rani H

机构信息

Department of Human Genetics, Emory University School of Medicine, 101 Woodruff Circle, 7th Floor Suite 7130, Atlanta, GA, 30322, USA.

Rollins School of Public Health, Emory University, Atlanta, GA, USA.

出版信息

J Community Genet. 2025 Apr;16(2):131-137. doi: 10.1007/s12687-024-00764-1. Epub 2025 Jan 8.

Abstract

As the role of primary care providers (PCPs) in genetic medicine increases, there is a need for training related to the integration of genetics into primary care. However, little is known about PCPs' attitudes towards and perceived needs for such training. We conducted semi-structured interviews with nine PCPs to capture information about their perceptions of their role in genetics and their continuing medical educational needs related to genetics in primary care, and we conducted thematic analysis. The identified themes fell into the following topics: perceptions of genetics, PCPs' roles in genetics, common reasons for referrals to genetic services, barriers to referrals to genetic services, genetic tests ordered by PCPs, and PCPs' educational needs regarding genetics. The most common perception of genetics was for the indication of personal or family history of cancer. PCPs' self-described role in genetics fell into two categories: recognition for when a referral for genetic services is warranted and education of families. Participants were divided in their opinion as to whether they should order genetic tests. PCP's education needs fell into four main categories: how and when to refer to genetic services, test interpretation, basic genetics, and co-management of genetic conditions, with a particular emphasis on cancer. While PCPs expressed an interest in further genetics education, they also questioned the applicability of genetics to their practice. The information obtained in this study can help inform the development of successful education activities and programs in genetics for PCPs.

摘要

随着初级保健提供者(PCP)在基因医学中的作用不断增加,需要开展与将遗传学融入初级保健相关的培训。然而,对于PCP对这种培训的态度和感知需求知之甚少。我们对9名PCP进行了半结构化访谈,以获取有关他们对自身在遗传学中的角色认知以及与初级保健中遗传学相关的继续医学教育需求的信息,并进行了主题分析。确定的主题分为以下几个方面:对遗传学的认知、PCP在遗传学中的角色、转诊至基因服务的常见原因、转诊至基因服务的障碍、PCP所开具的基因检测、以及PCP在遗传学方面的教育需求。对遗传学最常见的认知是用于癌症个人或家族史的指征。PCP自我描述在遗传学中的角色分为两类:识别何时需要转诊至基因服务以及对患者家属进行教育。对于是否应该开具基因检测,参与者意见不一。PCP的教育需求主要分为四类:如何以及何时转诊至基因服务、检测解读、基础遗传学、以及基因疾病的共同管理,尤其侧重于癌症。虽然PCP对进一步的遗传学教育表示出兴趣,但他们也质疑遗传学在其临床实践中的适用性。本研究中获得的信息有助于为成功开展针对PCP的遗传学教育活动和项目提供参考。

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Quality education as a cornerstone of community genetics.优质教育是群体遗传学的基石。
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