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遗传教育对患者转诊至遗传评估的影响:一项针对肾病学家的全国性调查结果。

The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists.

机构信息

Division of Nephrology, Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY; Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY.

Division of Nephrology, Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY.

出版信息

Genet Med. 2023 May;25(5):100814. doi: 10.1016/j.gim.2023.100814. Epub 2023 Feb 12.

Abstract

PURPOSE

The success of genomic medicine hinges on the implementation of genetic knowledge in clinical settings. In novel subspecialties, it requires that clinicians refer patients to genetic evaluation or testing, however referral is likely to be affected by genetic knowledge.

METHODS

An online survey was administered to self-identified nephrologists working in the United States. Nephrologists' demographic characteristics, genetic education, confidence in clinical genetics, genetic knowledge, and referral rates of patients to genetic evaluation were collected.

RESULTS

In total, 201 nephrologists completed the survey. All reported treating patients with genetic forms of kidney disease, and 37% had referred <5 patients to genetic evaluation. A third had limited basic genetic knowledge. Most nephrologists (85%) reported concerns regarding future health insurance eligibility as a barrier to referral to genetic testing. Most adult nephrologists reported insufficient genetic education during residency (65%) and fellowship training (52%). Lower rating of genetic education and lower knowledge in recognizing signs of genetic kidney diseases were significantly associated with lower number of patients referred to the genetic evaluation (P < .001). Most nephrologists reported that improving their genetic knowledge is important for them (>55%).

CONCLUSIONS

There is a need to enhance nephrologists' genetic education to increase genetic testing use in nephrology.

摘要

目的

基因组医学的成功取决于将遗传知识应用于临床环境中。在新的亚专科中,这要求临床医生将患者转介到遗传评估或检测,但这种转介可能会受到遗传知识的影响。

方法

对在美国工作的自我认同的肾病学家进行了在线调查。收集了肾病学家的人口统计学特征、遗传教育、对临床遗传学的信心、遗传知识以及将患者转介到遗传评估的比率。

结果

共有 201 名肾病学家完成了调查。所有报告都治疗过患有遗传性肾脏疾病的患者,37%的患者转介到遗传评估的患者<5 人。三分之一的人遗传基础知识有限。大多数肾病学家(85%)表示,担心未来的健康保险资格是转诊进行基因检测的障碍。大多数成人肾病学家报告在住院医师培训期间(65%)和研究员培训期间(52%)接受的遗传教育不足。遗传教育评分较低和识别遗传肾脏疾病迹象的知识较低与转介到遗传评估的患者人数较少显著相关(P<0.001)。大多数肾病学家报告说,提高他们的遗传知识对他们很重要(>55%)。

结论

需要加强肾病学家的遗传教育,以增加肾脏病学中的基因检测使用。

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