ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 1 of them a synthesis that pooled it.
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Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 119 citations in OpenAlex.
- What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability.European journal of human genetics : EJHG · 2024Pooled it
- Increased risk of kidney failure in patients with genetic kidney disorders.The Journal of clinical investigation · 2024Trial
- Patient harms during delayed access to clinical genetics services. A systematic literature review and synthesis without meta-analysis (SWiM).European journal of human genetics : EJHG · 2026Review
- Review
- Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.Nature reviews. Nephrology · 2026Review
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Scoping Review of Global Kidney Genetics Clinic Models and Outcomes.Kidney international reports · 2026Article
- Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of care.European journal of human genetics : EJHG · 2026Article
- Chronic Kidney Disease in Children with Suspected Genetic Etiology: Diagnostic Yield and Clinical Implications.Journal of personalized medicine · 2026Article
- Genetic Testing in the Management of Adult CKD.Journal of the American Society of Nephrology : JASN · 2026Article
- Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study.Paediatrics & child health · 2026Article
- Results of Multigene Panel Testing, IncludingKidney medicine · 2026Article
- CKDs at the Crossroads: From Failures to Future Therapies.Kidney international reports · 2025Review
- Determining the value of genomics in healthcare.Nature medicine · 2025Review
- Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.Human genomics · 2025Article
- Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation.European journal of human genetics : EJHG · 2025Review
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Nephrogenomics, precision medicine and the role of genetic testing in adult kidney disease management.Nature reviews. Nephrology · 2025Review
- Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective.Pediatric nephrology (Berlin, Germany) · 2025Review
- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors at 15 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease.
methodsWe performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia.
resultsES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%).
conclusionIn this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.
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