Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.
Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.
复制标题
DOI：
10.1016/j.ekir.2020.10.030
复制
发表时间：
2021-03
影响因子：
6
通讯作者：
Stark Z
中科院分区：
文献类型：
--
作者：
Jayasinghe K;Quinlan C;Mallett AJ;Kerr PG;McClaren B;Nisselle A;Mallawaarachchi A;Polkinghorne KR;Patel C;Best S;Stark Z
基因组检测作为一种诊断工具正变得越来越普遍，尽管在肾脏病学中尚未建立广泛的实施。一个匿名的电子调查进行调查的经验和信心与基因组测试，认为临床效用的基因组服务，偏好的服务提供模式，并准备实施肾科医生。问题由全面的文献综述和出版的工具指导，包括实施基因组医学的有效理论框架：实施研究的综合框架（CFIR）。收到了224名临床医生的回复，其中172名有资格进行分析。大多数临床医生（132 [76%]）至少将一名患者转诊至遗传学诊所。尽管大多数临床医生（136 [85%]）表示他们相信基因检测是有用的，但只有39（23%）表示他们对使用基因组检测结果感到有信心，与成人临床医生相比，儿科临床医生感到更有信心（20人中的12人[60%] vs. 149人中的27人[18%]，P < 0.01，Fisher精确）。多学科肾脏遗传学诊所是接受调查的临床医生的首选模式（98/172 [57%]）。强调的一个关键实施障碍与医院或组织文化和/或环境有关。在定量和定性答复中指出的具体障碍包括人员配备、学习资源和资金不足。我们的研究结果表明，支持肾脏病学家之间的基因组检测，强烈倾向于多学科模式（涉及肾脏病学家，临床遗传学家和遗传咨询师）。迫切需要广泛的干预措施来改变当前的文化，确保在肾脏病学中成功实施基因组学，包括减少知识差距，增加资金和资源，疾病特异性指南以及简化测试过程。
Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology. An anonymous electronic survey was administered to investigate experience and confidence with genomic tests, perceived clinical utility of genomic services, preferences for service delivery models, and readiness for implementation among nephrologists. Questions were guided by a comprehensive literature review and published tools, including a validated theoretical framework for implementation of genomic medicine: Consolidated Framework for Implementation Research (CFIR). Responses were received from 224 clinicians, of which 172 were eligible for analysis. Most clinicians (132 [76%]) had referred at least one patient to a genetics clinic. Despite most clinicians (136 [85%]) indicating that they believed genetic testing would be useful, only 39 (23%) indicated they felt confident to use results of genomic testing, with pediatric clinicians feeling more confident compared with adult clinicians (12 of 20 [60%] vs. 27 of 149 [18%]), P < 0.01, Fisher exact). A multidisciplinary renal genetics clinic was the preferred model among clinicians surveyed (98 of 172 [57%]). A key implementation barrier highlighted related to the hospital or organizational culture and/or environment. Specific barriers noted in quantitative and qualitative responses included inadequate staffing, learning resources, and funding. Our findings suggest support for genomic testing among nephrologists, with a strong preference for a multidisciplinary model (involving a nephrologist, clinical geneticist, and genetic counselor). Broad-ranging interventions are urgently required to shift the current culture and ensure successful implementation of genomics in nephrology, including reducing knowledge gaps, increased funding and resources, disease-specific guidelines, and streamlining of testing processes.
登录
查看更多内容
DOI：
10.1186/1748-5908-4-50
发表时间：
2009-08-07
期刊：
Implementation science : IS
影响因子：
--
作者：
Damschroder LJ;Aron DC;Keith RE;Kirsh SR;Alexander JA;Lowery JC
通讯作者：
Lowery JC
影响因子：
5.3
作者：
Shea L;Newschaffer CJ;Xie M;Myers SM;Mandell DS
通讯作者：
Mandell DS
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：
3.7
作者：
McClaren, Belinda J.;Crellin, Erin;Gaff, Clara L.
通讯作者：
Gaff, Clara L.
遗传学劳动力：遗传学服务的分布和加利福尼亚州医疗保健的挑战。
DOI：
10.1038/s41436-019-0628-5
发表时间：
2020-01
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--