ReviewNephrology (Carlton, Vic.)2019
Renal genetics in Australia: Kidney medicine in the genomic age.
Review in Nephrology (Carlton, Vic.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.BMC nephrology · 2025Article
- Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.Kidney international reports · 2025Article
- Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.Clinical journal of the American Society of Nephrology : CJASN · 2025Article
- Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.Pediatric nephrology (Berlin, Germany) · 2024Article
- A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases.Pediatric nephrology (Berlin, Germany) · 2024Article
- Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.Human genomics · 2024Article
- Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.Kidney international reports · 2024Article
- Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.NPJ genomic medicine · 2023Article
- Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic.Kidney medicine · 2023Article
- Article
- The Evolving Role of Diagnostic Genomics in Kidney Transplantation.Kidney international reports · 2022Review
- Emerging Role of Clinical Genetics in CKD.Kidney medicine · 2022Review
- Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.Genes · 2021Review
- Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.Kidney international reports · 2021Article
- Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.Kidney international reports · 2021Article
- Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease.Canadian journal of kidney health and disease · 2021Article
- Advances in our understanding of genetic kidney disease using kidney organoids.Pediatric nephrology (Berlin, Germany) · 2020Review
- Diagnostic Yield of Next-Generation Sequencing in Patients With Chronic Kidney Disease of Unknown Etiology.Frontiers in genetics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There have been few new therapies for patients with chronic kidney disease in the last decade. However, the management of patients affected by genetic kidney disease is rapidly evolving. Inherited or genetic kidney disease affects around 10% of adults with end-stage kidney disease and up to 70% of children with early onset kidney disease. Advances in next-generation sequencing have enabled rapid and cost-effective sequencing of large amounts of DNA. Next-generation sequencing-based diagnostic tests now enable identification of a monogenic cause in around 20% of patients with early-onset chronic kidney disease. A definitive diagnosis through genomic testing may negate the need for prolonged diagnostic investigations and surveillance, facilitate reproductive planning and provide accurate counselling for at-risk relatives. Genomics has allowed the better understanding of disease pathogenesis, providing prognostic information and facilitating development of targeted treatments for patients with inherited or genetic kidney disease. Although genomic testing is becoming more readily available, there are many challenges to implementation in clinical practice. Multidisciplinary renal genetics clinics serve as a model of how some of these challenges may be overcome. Such clinics are already well established in most parts of Australia, with more to follow in future. With the rapid pace of new technology and gene discovery, collaboration between expert clinicians, laboratory and research scientists is of increasing importance to maximize benefits to patients and health-care systems.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.