Chronic Kidney Disease Collaboration, Global Burden of Disease. Global, regional, and national burden of chronic kidney disease, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet 395, 709–733 (2020).

Article  Google Scholar 

Chadban, S. J. et al. Prevalence of kidney damage in Australian adults: The AusDiab kidney study. J. Am. Soc. Nephrol. 14, S131–S138 (2003).

Article  PubMed  Google Scholar 

Coresh, J. et al. Prevalence of chronic kidney disease in the United States. JAMA 298, 2038–2047 (2007).

Article  CAS  PubMed  Google Scholar 

Fletcher, J., McDonald, S., Alexander, S. I. & Australian & New Zealand Pediatric Nephrology Association. Prevalence of genetic renal disease in children. Pediatr. Nephrol. 28, 251–256 (2013).

Article  PubMed  Google Scholar 

Hildebrandt, F. Decade in review-genetics of kidney diseases: genetic dissection of kidney disorders. Nat. Rev. Nephrol. 11, 635–636 (2015).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vivante, A. & Hildebrandt, F. Exploring the genetic basis of early-onset chronic kidney disease. Nat. Rev. Nephrol. 12, 133–146 (2016).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cocchi, E., Nestor, J. G. & Gharavi, A. G. Clinical genetic screening in adult patients with kidney disease. Clin. J. Am. Soc. Nephrol. 15, 1497–1510 (2020).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mallett, A. et al. The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia. Orphanet J. Rare Dis. 9, 98 (2014).

Article  PubMed  PubMed Central  Google Scholar 

Schrezenmeier, E. et al. The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation. Genet. Med. 23, 1219–1224 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Snoek, R. et al. Genetics-first approach improves diagnostics of ESKD patients <50 years old. Nephrol. Dial. Transpl. 37, 349–357 (2022).

Article  Google Scholar 

Sedor, J. R. APOL1 kidney disease: discovery to targeted therapy in 10 years. Clin. J. Am. Soc. Nephrol. 19, 126–128 (2023).

Article  PubMed  Google Scholar 

Cornec-Le Gall, E., Alam, A. & Perrone, R. D. Autosomal dominant polycystic kidney disease. Lancet 393, 919–935 (2019).

Article  PubMed  Google Scholar 

Mallett, A. J., Knoers, N., Sayer, J. & Stark, Z. Clinical versus research genomics in kidney disease. Nat. Rev. Nephrol. 17, 570–571 (2021).

Article  PubMed  Google Scholar 

Groopman, E. E. et al. Diagnostic utility of exome sequencing for kidney disease. N. Engl. J. Med. 380, 142–151 (2019).

Article  CAS  PubMed  Google Scholar 

Jayasinghe, K. et al. Clinical impact of genomic testing in patients with suspected monogenic kidney disease. Genet. Med. 23, 183–191 (2021).

Article  PubMed  Google Scholar 

Tanudisastro, H. A. et al. Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. NPJ Genom. Med. 6, 20 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Dahl, N. K. et al. The clinical utility of genetic testing in the diagnosis and management of adults with chronic kidney disease. J. Am. Soc. Nephrol. 34, 2039–2050 (2023).

Article  PubMed  Google Scholar 

Claus, L. R., Snoek, R., Knoers, N. & van Eerde, A. M. Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups. Am. J. Med. Genet. C. Semin. Med. Genet. 190, 358–376 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jayasinghe, K. et al. Cost-effectiveness of targeted exome analysis as a diagnostic test in glomerular diseases. Kidney Int. Rep. 6, 2850–2861 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Wu, Y. et al. Genomic testing for suspected monogenic kidney disease in children and adults: a health economic evaluation. Genet. Med. 25, 100942 (2023).

Article  CAS  PubMed  Google Scholar 

Becherucci, F. et al. A clinical workflow for cost-saving high-rate diagnosis of genetic kidney diseases. J. Am. Soc. Nephrol. 34, 706–720 (2023).

Article  PubMed  PubMed Central  Google Scholar 

Garrelfs, S. F. et al. Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1. N. Engl. J. Med. 384, 1216–1226 (2021).

Article  CAS  PubMed  Google Scholar 

Germain, D. P. et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol. Genet. Metab. 137, 49–61 (2022).

Article  CAS  PubMed  Google Scholar 

Heather, J. M. & Chain, B. The sequence of sequencers: the history of sequencing DNA. Genomics 107, 1–8 (2016).

Article  CAS  PubMed  Google Scholar 

Shendure, J. et al. DNA sequencing at 40: past, present and future. Nature 550, 345–353 (2017).

Article  CAS  PubMed  Google Scholar 

Lander, E. S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).

Article  CAS  PubMed  Google Scholar 

Venter, J. C. et al. The sequence of the human genome. Science 291, 1304–1351 (2001).

Article  CAS  PubMed  Google Scholar 

Stark, Z. et al. Integrating genomics into healthcare: a global responsibility. Am. J. Hum. Genet. 104, 13–20 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gilissen, C., Hoischen, A., Brunner, H. G. & Veltman, J. A. Unlocking Mendelian disease using exome sequencing. Genome Biol. 12, 228 (2011).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).

Article  PubMed  PubMed Central  Google Scholar 

Rehm, H. L. et al. GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genom 1, 100029 (2021).

Austin-Tse, C. A. et al. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom. Med. 7, 27 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Stark, Z. et al. Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution. Am. J. Hum. Genet. 108, 1551–1557 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yuskaitis, C. J., Sheidley, B. R. & Poduri, A. Variability among next-generation sequencing panels for early-life epilepsies. JAMA Pediatr. 172, 779–780 (2018).