Department of Nephrology, Monash Health, Melbourne 3168, Australia.
Department of Medicine, Monash University, Melbourne 3168, Australia.
Genes (Basel). 2022 Oct 21;13(10):1919. doi: 10.3390/genes13101919.
(1) Background: Genomic testing is increasingly utilized as a clinical tool; however, its integration into nephrology remains limited. The purpose of this study was to identify barriers and prioritize interventions for the widespread implementation of genomics in nephrology. (2) Methods: Qualitative, semi-structured interviews were conducted with 25 Australian adult nephrologists to determine their perspectives on interventions and models of care to support implementation of genomics in nephrology. Interviews were guided by a validated theoretical framework for the implementation of genomic medicine-the Consolidated Framework of Implementation Research (CFIR). (3) Results: Nephrologists were from 18 hospitals, with 7 having a dedicated multidisciplinary kidney genetics service. Most practiced in the public healthcare system (n = 24), a large number were early-career (n = 13), and few had genomics experience (n = 4). The top three preferred interventions were increased funding, access to genomics champions, and education and training. Where interventions to barriers were not reported, we used the CFIR/Expert Recommendations for Implementing Change matching tool to generate theory-informed approaches. The preferred model of service delivery was a multidisciplinary kidney genetics clinic. (4) Conclusions: This study identified surmountable barriers and practical interventions for the implementation of genomics in nephrology, with multidisciplinary kidney genetics clinics identified as the preferred model of care. The integration of genomics education into nephrology training, secure funding for testing, and counselling along with the identification of genomics champions should be pursued by health services more broadly.
（1）背景：基因组检测越来越多地被用作临床工具；然而，它在肾脏病学中的应用仍然有限。本研究的目的是确定将基因组学广泛应用于肾脏病学的障碍，并确定干预措施的优先级。（2）方法：对 25 名澳大利亚成人肾病学家进行了定性、半结构化访谈，以确定他们对支持基因组学在肾脏病学中实施的干预措施和护理模式的看法。访谈以基因组医学实施的验证理论框架-整合实施研究框架（CFIR）为指导。（3）结果：肾病学家来自 18 家医院，其中 7 家有专门的多学科肾脏遗传学服务。大多数人在公共医疗保健系统中执业（n=24），其中很多是早期职业（n=13），很少有人有基因组学经验（n=4）。首选的三种干预措施是增加资金、获得基因组学拥护者，以及教育和培训。对于未报告干预措施以克服障碍的情况，我们使用 CFIR/专家实施变革建议匹配工具生成基于理论的方法。首选的服务提供模式是多学科肾脏遗传学诊所。（4）结论：本研究确定了在肾脏病学中实施基因组学的可克服障碍和实际干预措施，多学科肾脏遗传学诊所被确定为首选的护理模式。应更广泛地由卫生服务机构推动将基因组学教育纳入肾脏病学培训、为检测提供安全资金以及提供咨询服务，并确定基因组学拥护者。
