Jayasinghe Kushani, Biros Erik, Harris Trudie, Wood Alasdair, O'Shea Rosie, Hill Lauren, Fowles Lindsay, Wardrop Louise, Shalhoub Carolyn, Hahn Deirdre, Rangan Gopala, Kevin Lucy, Tchan Michel, Snelling Paul, Sandow Rhiannon, Sundaram Madhivan, Chaturvedi Swasti, Trnka Peter, Faull Randall, Poplawski Nicola K, Huntley Vanessa, Garza Denisse, Wallis Mathew, Jose Matthew, Leaver Anna, Trainer Alison H, Wilkins Ella J, White Sue, Elbaum Yoni, Prawer Yael, Krzesinski Emma, Valente Giulia, Winship Ingrid, Ryan Jessica, Whitlam John, Nicholls Kathy, West Kirsty, Donaldson Liz, Johnstone Lilian, Lewit-Mendes Miranda, Kerr Peter G, Bodek Simon, Chakera Aron, MacShane Mandi, Mincham Christine, Stackpoole Elaine, Willis Francis, Soraru Jacqueline, Pachter Nick, Bennetts Bruce, Forbes Thomas A, Mallawaarachchi Amali, Quinlan Catherine, Patel Chirag, McCarthy Hugh, Goranitis Illias, Best Stephanie, Alexander Stephen, Stark Zornitza, Mallett Andrew J
Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, Australia.
School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia.
Kidney Int Rep. 2024 May 9;9(8):2372-2385. doi: 10.1016/j.ekir.2024.04.068. eCollection 2024 Aug.
Diagnostic genomic sequencing is the emerging standard of care in nephrology. There is a growing need to scale up the implementation of genomic diagnostics nationally to improve patient outcomes.
This pragmatic study provided genomic or genetic testing to patients with suspected monogenic kidney disease through a national network of kidney genetics clinics (KGCs). We sought to evaluate the experiences of implementing genomic diagnostics across Australia and associated diagnostic outcomes between 2013 and 2022.
We successfully established and expanded a nationwide network of 20 clinics as of 2022; concurrently developing laboratory, research, and education programs to scale the clinical application of genomics in nephrology. We report on an Australian cohort of 1506 kidney patients, of whom 1322 received their test results. We assessed barriers to implementation in the nephrology context, and where possible, applied real-time solutions to improve clinical processes over 10 years.
Developing a multidisciplinary kidney genetics model across multiple health services nationally was highly successful. This model supported optimal care of individuals with monogenic kidney disease in an economically responsible way. It has continued to evolve with technological and service developments and is now set to scale further as genomic testing for kidney patients transitions to health care system funding.
诊断性基因组测序正在成为肾脏病学中新兴的标准治疗方法。在全国范围内扩大基因组诊断的实施规模以改善患者预后的需求日益增长。
这项务实的研究通过全国肾脏遗传学诊所(KGC)网络为疑似单基因肾病患者提供基因组或基因检测。我们试图评估2013年至2022年期间在澳大利亚实施基因组诊断的经验以及相关的诊断结果。
截至2022年,我们成功建立并扩大了一个由20家诊所组成的全国性网络;同时开展实验室、研究和教育项目,以扩大基因组学在肾脏病学中的临床应用。我们报告了一个由1506名肾病患者组成的澳大利亚队列,其中1322人收到了检测结果。我们评估了肾脏病学背景下实施过程中的障碍,并在可能的情况下,在10年时间里应用实时解决方案来改善临床流程。
在全国多个医疗服务机构中建立多学科肾脏遗传学模式非常成功。该模式以经济上合理的方式支持了对单基因肾病患者的最佳治疗。它随着技术和服务的发展而不断演变,现在随着肾病患者的基因组检测向医疗保健系统资金的转变,它将进一步扩大规模。