Genetic Testing for Chronic Kidney Diseases: Clinical Utility and Barriers Perceived by Nephrologists.
Genetic Testing for Chronic Kidney Diseases: Clinical Utility and Barriers Perceived by Nephrologists.
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DOI：
10.1016/j.xkme.2021.08.006
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发表时间：
2021-11
期刊：
影响因子：
3.9
通讯作者：
Billings PR
中科院分区：
文献类型：
--
作者：
Mrug M;Bloom MS;Seto C;Malhotra M;Tabriziani H;Gauthier P;Sidlow V;McKanna T;Billings PR
识别慢性肾脏疾病相关基因的致病变异可以为患者和肾脏科医生提供可操作的信息，以指导诊断和治疗计划。然而，许多肾病学家并不使用基因检测，尽管成本随着时间的推移而下降，而且可获得性更广泛。我们进行了一项调查，以揭示普通成人肾脏科医生对基因检测在临床实践中的效用和障碍的看法。这项在线调查是针对美国注册的肾病学家(n=10,054)进行的。我们分析了调查受访者的人口学特征以及他们在常规临床实践中使用基因检测的反应。共有149名肾病学家完成了这项调查，其中72%(149人中的107人)报告在执业过程中使用了基因测试。平均而言，他们对3.8%的患者进行了测试。在没有基因测试病史的肾科医生的回答中，35%的人将感知到的障碍列为“极其重要的”，而那些以前使用过基因测试的人的回答中，这一比例为23%。然而，基因检测使用者和非使用者都指出，基因检测费用高(使用者：46%，107人中有49人；非使用者69%，42人中有29人)以及可获得性差或不容易(使用者：33%，107人中有35人；非使用者：57%；42人中有24人)是实施的最大障碍。这项研究中使用的调查之前并未得到验证；此外，由于回答的数量相对较少，在应答者中可能存在选择偏差。尽管大多数肾病学家报告在临床实践中使用基因测试，但高昂的成本和较差的可用性或缺乏易用性被视为常规采用的最重要障碍。这些观察表明，涵盖一系列主题的教育项目，从慢性肾脏疾病的遗传学到测试的选择，可能有助于缓解这些障碍，并加强基因测试在肾脏病实践中的使用。
The identification of pathogenic variants in genes associated with chronic kidney disease can provide patients and nephrologists with actionable information to guide diagnoses and therapeutic plans. However, many nephrologists do not use genetic testing despite costs decreasing over time and more widespread availability. We conducted a survey to uncover the perceptions of general adult nephrologists about the utility of and barriers to genetic testing in clinical practice. The online survey was administered to board-certified nephrologists (n = 10,054) in the United States. We analyzed demographic characteristics of the survey respondents and their responses in the context of their use of genetic testing in routine clinical practice. A total of 149 nephrologists completed the survey, with 72% (107 of 149) reporting genetic test use in their practice. On average, tests were ordered for 3.8% of their patient population. Thirty-five percent of responses from nephrologists without a history of genetic test use ranked perceived barriers as “extremely significant” compared with 23% of responses from those who had previously used genetic tests. However, both users and nonusers of genetic tests indicated high cost (users: 46%, 49 of 107; nonusers 69%, 29 of 42) and poor availability or lack of ease (users: 33%, 35 of 107; nonusers: 57%; 24 of 42) of genetic testing as the most significant perceived barriers to implementation. The survey used in this study was not previously validated; additionally, because of the relatively small number of responses, there might have been a selection bias among the responders. Although most nephrologists reported using genetic tests in clinical practice, high costs and poor availability or the lack of ease of use were perceived as the most important barriers to routine adoption. These observations indicate that educational programs that cover a range of topics, from genetics of chronic kidney disease to selection of the test, may help mitigate these barriers and enhance the use of genetic testing in nephrology practice.
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影响因子：
6
作者：
Jayasinghe K;Quinlan C;Mallett AJ;Kerr PG;McClaren B;Nisselle A;Mallawaarachchi A;Polkinghorne KR;Patel C;Best S;Stark Z
通讯作者：
Stark Z
影响因子：
30.8
作者：
Liu C;Kraja AT;Smith JA;Brody JA;Franceschini N;Bis JC;Rice K;Morrison AC;Lu Y;Weiss S;Guo X;Palmas W;Martin LW;Chen YD;Surendran P;Drenos F;Cook JP;Auer PL;Chu AY;Giri A;Zhao W;Jakobsdottir J;Lin LA;Stafford JM;Amin N;Mei H;Yao J;Voorman A;CHD Exome+ Consortium;ExomeBP Consortium;GoT2DGenes Consortium;T2D-GENES Consortium;Larson MG;Grove ML;Smith AV;Hwang SJ;Chen H;Huan T;Kosova G;Stitziel NO;Kathiresan S;Samani N;Schunkert H;Deloukas P;Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia;Li M;Fuchsberger C;Pattaro C;Gorski M;CKDGen Consortium;Kooperberg C;Papanicolaou GJ;Rossouw JE;Faul JD;Kardia SL;Bouchard C;Raffel LJ;Uitterlinden AG;Franco OH;Vasan RS;O'Donnell CJ;Taylor KD;Liu K;Bottinger EP;Gottesman O;Daw EW;Giulianini F;Ganesh S;Salfati E;Harris TB;Launer LJ;Dörr M;Felix SB;Rettig R;Völzke H;Kim E;Lee WJ;Lee IT;Sheu WH;Tsosie KS;Edwards DR;Liu Y;Correa A;Weir DR;Völker U;Ridker PM;Boerwinkle E;Gudnason V;Reiner AP;van Duijn CM;Borecki IB;Edwards TL;Chakravarti A;Rotter JI;Psaty BM;Loos RJ;Fornage M;Ehret GB;Newton-Cheh C;Levy D;Chasman DI
通讯作者：
Chasman DI
DOI：
10.1038/s41436-020-00963-4
发表时间：
2021-01
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Jayasinghe K;Stark Z;Kerr PG;Gaff C;Martyn M;Whitlam J;Creighton B;Donaldson E;Hunter M;Jarmolowicz A;Johnstone L;Krzesinski E;Lunke S;Lynch E;Nicholls K;Patel C;Prawer Y;Ryan J;See EJ;Talbot A;Trainer A;Tytherleigh R;Valente G;Wallis M;Wardrop L;West KH;White SM;Wilkins E;Mallett AJ;Quinlan C
通讯作者：
Quinlan C
影响因子：
19.6
作者：
Hays T;Groopman EE;Gharavi AG
通讯作者：
Gharavi AG
影响因子：
19.6
作者：
Bullich, Gemma;Domingo-Gallego, Andrea;Ars, Elisabet
通讯作者：
Ars, Elisabet