Implementation and evaluation of a national multidisciplinary kidney genetics clinic network over ten years

Kushani Jayasinghe,Erik Biros, Trudie Harris, Alasdair Wood, Rosie O’Shea, Lauren Hill,Lindsay Fowles,Louise Wardrop, Carolyn Shalhoub,Deirdre Hahn,Gopala Rangan, Lucy Kevin,Michel Tchan,Paul Snelling, Rhiannon Sandow, Madhivan Sundaram,Swasti Chaturvedi,Peter Trnka,Randall Faull,Nicola K. Poplawski

Kidney International Reports(2024)

引用 0|浏览6
暂无评分
摘要
Introduction 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. Methods This pragmatic study provided genomic or genetic testing to patients with suspected monogenic kidney disease through a national network of kidney genetics clinics. We sought to evaluate the experiences of implementing genomic diagnostics across Australia and associated diagnostic outcomes between 2013 and 2022. Results 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 1,506 kidney patients, of whom 1,322 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 ten years. Conclusion 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 healthcare system funding.
更多
查看译文
关键词
kidney disease,genomic testing,implementation
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要