Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network over Ten Years
Kidney International Reports(2024)
摘要
IntroductionDiagnostic 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.MethodsThis 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.ResultsWe 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.ConclusionDeveloping 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.
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关键词
kidney disease,genomic testing,implementation
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