Peer-reviewed article
The role of genomics in contemporary nephrology and the imminent horizons of genomic reanalysis
Jacqueline Soraru, Erik Biroš, Aron Chakera, Ben Lundie, Sebastian Lunke et al. ·
Summary
Written by AI, not yet AICS's view · claude-sonnet-5-5This is a review of how genomic testing is used in kidney medicine (nephrology). It says genetic kidney diseases cause a substantial share of chronic kidney disease in both children and adults. It argues that re-analysing genomic data over time raises diagnostic yield and improves care. It also looks ahead to multi-omics, artificial intelligence and equity in genomic care. Children are mentioned only briefly, as part of a general clinical audience.
Key points
- Genetic kidney diseases account for a substantial proportion of chronic kidney disease in children and adults.
- Genomic testing has changed diagnosis and management of kidney disorders.
- Reinterpreting genomic data as knowledge and classification criteria evolve substantially increases diagnostic yield.
- Future directions include multi-omics, artificial intelligence and equity in genomic care.
Limitations
The abstract does not focus on children's well-being, name any country or give data specific to children. It is a narrative review and does not evaluate an intervention for a defined child problem.
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.