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Background <p>Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adults across all stages of kidney disease. Precise genetic diagnosis in GKD promises to improve patient outcomes, provide access to targeted treatments, and reduce the disease burden for individuals, families, and healthcare systems. Genetic investigations are increasingly used in nephrology practice; however, many patients who undergo testing still lack a definitive diagnosis.</p> Methods <p>The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. Participants will undergo a personalised pathway of research genomic investigations. These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids.</p> Discussion <p>The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis.</p>

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Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年2月3日

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  • Amali Mallawaarachchi,
  • Hugh McCarthy,
  • Thomas A. Forbes,
  • Kushani Jayasinghe,
  • Chirag Patel,
  • Stephen I. Alexander,
  • Tiffany Boughtwood,
  • Jeffrey Braithwaite,
  • Aron Chakera,
  • Sam Crafter,
  • Ira W. Deveson,
  • Randall Faull,
  • Trudie Harris,
  • Lilian Johnstone,
  • Matthew Jose,
  • Anna Leaver,
  • Melissa H. Little,
  • Daniel MacArthur,
  • Tessa Mattiske,
  • Christine Mincham,
  • Kathy Nicholls,
  • Catherine Quinlan,
  • Michael C. J. Quinn,
  • Gopala Rangan,
  • Jessica Ryan,
  • Cas Simons,
  • Ian Smyth,
  • Madhivanan Sundaram,
  • Peter Trnka,
  • Laura Wedd,
  • Erik Biros,
  • Zornitza Stark,
  • Andrew Mallett

摘要

Background

Genetic kidney disease (GKD) significantly affects the community and is responsible for a notable portion of adult kidney disease cases and about half of cases in paediatric patients. It substantially impacts the quality of life and life expectancy for affected children and adults across all stages of kidney disease. Precise genetic diagnosis in GKD promises to improve patient outcomes, provide access to targeted treatments, and reduce the disease burden for individuals, families, and healthcare systems. Genetic investigations are increasingly used in nephrology practice; however, many patients who undergo testing still lack a definitive diagnosis.

Methods

The KidGen National Kidney Genomics Study aims to increase diagnostic yield for those with suspected monogenic kidney disease without a diagnosis after standard diagnostic genetic testing. The program will seek to enrol up to 200 families from KidGen Collaborative kidney genetics clinics across Australia who have yet to receive conclusive diagnoses despite prior testing. Participants will undergo a personalised pathway of research genomic investigations. These include re-analysing existing data and/or undergoing advanced genomic testing methods, including short and long-read whole-genome sequencing, RNA sequencing, and functional genomics strategies using mouse modelling or kidney organoids.

Discussion

The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis.