The role of genomics in contemporary nephrology and the imminent horizons of genomic reanalysis

Abstract Genomic medicine has profoundly transformed Nephrology—a specialty uniquely positioned to take advantage of the mechanistic insights provided by genomics that can guide precision care. Genetic kidney diseases account for a substantial proportion of chronic kidney disease in both children and adults, and the integration of genomic testing has redefined diagnosis, management, and even the conceptual architecture of kidney disorders. Contemporary Nephrology is increasingly guided by genomic understandings that clarify pathogenesis, refine clinical classification, and enable precision interventions. As genomic sequencing becomes embedded in clinical workflows, the focus is shifting from single-timepoint analysis to iterative genomic reanalysis. The reinterpretation of genomic data in light of new knowledge, improved annotation, and evolving classification criteria substantially increases diagnostic yield and optimises patient care. Reanalysis represents not only a technical evolution but also a philosophical shift- viewing genomic data as a living, longitudinal resource that requires continual stewardship. This review explores the foundational role of genomics and genetic kidney disease in Nephrology, the state of genomic integration in clinical practice, and the transformative potential of genomic reanalysis. It also considers imminent frontiers, including multi-omics, artificial intelligence, and the foundational importance of equity in genomic care. Together, these advances signal a reimagining of Nephrology—from a phenotype-based discipline to one rooted in molecular precision and iterative discovery.

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Publication Details

Journal
Journal of Rare Diseases
Published
2026-10-05
DOI
https://doi.org/10.1007/s44162-026-00244-9
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

The role of genomics in contemporary nephrology and the imminent horizons of genomic reanalysis

Andrew John Mallett, Sebastian Lunke, Aron Chakera, Erik Biroš et al.
Journal of Rare Diseases
Genomics and Rare Diseases
article

The role of genomics in contemporary nephrology and the imminent horizons of genomic reanalysis

Andrew John Mallett, Sebastian Lunke, Aron Chakera, Erik Biroš, Ben Lundie, Jacqueline Soraru, Zornitza Stark
article en

Abstract

Abstract Genomic medicine has profoundly transformed Nephrology—a specialty uniquely positioned to take advantage of the mechanistic insights provided by genomics that can guide precision care. Genetic kidney diseases account for a substantial proportion of chronic kidney disease in both children and adults, and the integration of genomic testing has redefined diagnosis, management, and even the conceptual architecture of kidney disorders. Contemporary Nephrology is increasingly guided by genomic understandings that clarify pathogenesis, refine clinical classification, and enable precision interventions. As genomic sequencing becomes embedded in clinical workflows, the focus is shifting from single-timepoint analysis to iterative genomic reanalysis. The reinterpretation of genomic data in light of new knowledge, improved annotation, and evolving classification criteria substantially increases diagnostic yield and optimises patient care. Reanalysis represents not only a technical evolution but also a philosophical shift- viewing genomic data as a living, longitudinal resource that requires continual stewardship. This review explores the foundational role of genomics and genetic kidney disease in Nephrology, the state of genomic integration in clinical practice, and the transformative potential of genomic reanalysis. It also considers imminent frontiers, including multi-omics, artificial intelligence, and the foundational importance of equity in genomic care. Together, these advances signal a reimagining of Nephrology—from a phenotype-based discipline to one rooted in molecular precision and iterative discovery.

Journal of Rare DiseasesVol. 5(1)
Queensland Health (AU), The University of Queensland (AU), The University of Melbourne (AU), The University of Western Australia (AU), Curtin University (AU), Harry Perkins Institute of Medical Research (AU), Princess Margaret Hospital for Children (AU), Townsville Hospital (AU), Fiona Stanley Hospital (AU), Sir Charles Gairdner Hospital (AU), Victorian Clinical Genetics Services (AU), Murdoch Children's Research Institute (AU), Perth Children's Hospital, Institute for Molecular Bioscience (AU), James Cook University (AU)
Openalex Percentile: Top 13%
Genomics and Rare Diseases
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