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一项关于将()基因检测应用于临床实践的移植外科医生和肾病学家全国性调查。 (注:原文括号处内容缺失)

A National Survey of Transplant Surgeons and Nephrologists on Implementing () Genetic Testing Into Clinical Practice.

作者信息

Gordon Elisa J, Wicklund Catherine, Lee Jungwha, Sharp Richard R, Friedewald John

机构信息

Division of Transplantation, Department of Surgery, Center for Healthcare Studies, Center for Bioethics and Medical Humanities, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

出版信息

Prog Transplant. 2019 Mar;29(1):26-35. doi: 10.1177/1526924818817048. Epub 2018 Dec 13.

Abstract

INTRODUCTION

There is debate over whether Apolipoprotein L1 (APOL1) gene risk variants contribute to African American (AA) live donors' (LD) increased risk of kidney failure. Little is known about factors influencing physicians' integration of APOL1 genetic testing of AA LDs into donor evaluation.

DESIGN

We conducted a cross-sectional survey, informed by Roger's Diffusion of Innovations theory, among nephrology and surgeon members of the American Society of Nephrology, American Society of Transplantation, and American Society of Transplant Surgeons about their practices of and attitudes about APOL1 genetic testing of AA potential LDs. Descriptive statistics and bivariate analyses were performed.

RESULTS

Of 383 completed surveys, most physicians believed that APOL1 testing can help AA LDs make more informed donation decisions (87%), and the addition of APOL1 testing offers better clinical information about AA LD's eligibility for donation than existing evaluation approaches (74%). Among respondents who evaluate LDs (n = 345), 63% would definitely or probably begin or continue using APOL1 testing in the next year, however, few use APOL1 testing routinely (4%) or on a case-by-case basis (14%). Most did not know the right clinical scenario to order APOL1 testing (59%), but would use educational materials to counsel AA LDs about APOL1 testing (97%).

DISCUSSION

Although physicians were highly supportive of APOL1 genetic testing for AA LDs, few physicians use APOL1 testing. As more physicians intend to use APOL1 testing, an ethical framework and clinical decision support are needed presently to assist clinicians in clarifying the proper indication of APOL1 genetic testing.

摘要

引言

载脂蛋白L1(APOL1)基因风险变异是否会导致非裔美国(AA)活体供者(LD)肾衰竭风险增加,目前仍存在争议。关于影响医生将AA LD的APOL1基因检测纳入供者评估的因素,我们知之甚少。

设计

我们根据罗杰斯创新扩散理论,对美国肾脏病学会、美国移植学会和美国移植外科医生学会的肾脏病学和外科成员进行了一项横断面调查,了解他们对AA潜在LD进行APOL1基因检测的实践和态度。进行了描述性统计和双变量分析。

结果

在383份完成的调查中,大多数医生认为APOL1检测可以帮助AA LD做出更明智的捐赠决定(87%),并且与现有评估方法相比,增加APOL1检测能提供关于AA LD捐赠资格的更好临床信息(74%)。在评估LD的受访者中(n = 345),63%肯定或可能会在明年开始或继续使用APOL1检测,然而,很少有人常规使用APOL1检测(4%)或逐案使用(14%)。大多数人不知道进行APOL1检测的正确临床场景(59%),但会使用教育材料为AA LD提供关于APOL1检测的咨询(97%)。

讨论

尽管医生对AA LD进行APOL1基因检测高度支持,但很少有医生使用APOL1检测。由于更多医生打算使用APOL1检测,目前需要一个伦理框架和临床决策支持来帮助临床医生明确APOL1基因检测的正确指征。

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