Table 1:
Overview of diagnostic yield in different cohorts and populations with genetic kidney disease
| Author | Year | PMID | Cohort (n) | Family history | Testing | Panel | Diagnostic yield | Comments | |
|---|---|---|---|---|---|---|---|---|---|
| Groopman [24] | 2019 | 30 586 318 | AURORA (1128) CUMC (2187) |
50–80 years with end stage kidney failure. Adults with CKD 46.7% on dialysis. |
28.7% positive family history | WES | 625 nephropathy genes + 59 medically actionable genes in CUMC cohort | 9.3% diagnostic variants detected | Large population with high incidence of kidney failure, low family history |
| Tanudisastro [79] | 2021 | 33 664 247 | Adult and children referred for genetic testing from 2013–2018 | 552 271 adult 281 paediatric |
Not reported | 2013–2018 TruSight one panel 2018–19 WES |
Disease-specific tests/panels | 35% 32% 38% |
Did not include patients referred for microarray of pKD1/2 genetic testing |
| Elhassan [20] | 2021 | 35 099 770 |
Irish Kidney gene project | 698 adults | 73.9% | Total Panel (416) WES (193) WGS (25) MUC1/UMOD (43) Sanger (49 ADPKD) |
Phenotype directed testing | 51.4% 34% 56% 70% |
Included ADPKD patients, limited to Irish population |
| Jayasinghe [97] | 2021 | 32 939 031 | Patients with suspected GKD | 204 81 paediatric 123 adult |
57.4% | WES (1 microarray) |
Disease specific panels | 39% 47% 34% |
5% consanguinity |
| Connaughton [23] | 2019 | 30 773 290 | Irish patients 2014 to 2017 with suspected GKD | 114 | 73% | WES | Phenotype specific panel then 478 known kidney gene | 39% | Included PKD, predominantly Irish ancestry, high family history |
| Lata [131] | 2018 | 29 204 651 | Adults with CKD unknown OR hypertension from CUMC + 11 from other local institutions | 344 screened with 81 patients with clinical concern for gkd | 58% | WES | 287 Nephropathy genes | 23% | Excluded ADPKD |
| Bullich [29] | 2018 | 29 801 666 | Suspected inherited CKD Cystic Glomerular |
207 98 |
44% 81% |
NGS | 140 kidney gene panel | 78% 62% |
Targeted testing in high clinical likelihood |
| Domingo-Gallego [30] | 2022 | 33 532 864 | Suspected genetic CKD < 30 years | 460 | 49% | NGS + target c.428dupC MUC1 |
316 custom kidney panel | 65% | Included cystic kidney disease |
| Chen [1] | 2021 | 34 031 707 | Kidney failure before 19 years old | 188 | 18.1% | NGS | 2703 targeted genes, proband-WES, TRIO-WES, confirmati on of copy number variants | 39.9% | Genetic diagnosis reclassified diagnosis in 9.3% of cases |
| Rao [132] | 2019 | 31 328 266 | Chinese Children Genetic Kidney Disease Database | 1001 | WES | 2703 gene list | 42.1% | ||
| Saha [25] | 2023 | 37 464 296 | Retrospective cohort study >18 years in India | 86 | 10.5% consanguineous | Sanger, NGS | Disease specific tests/panels | 46% | Clinician initiated testing strategy |
| Mansilla [133] | 2021 | 31 738 409 | Cohort referred for genetic testing | 127 | 8.6% | Targeted panel | Disease-specific tests/panels | 44% | |
| Al-Hamed [134] | 2022 | 36 177 613 | CKD with likely GKD (15–79 years) | 102 | 59% (54% consanguineous) | NGS/Sanger | 336 panel | 42% | Highly consanguineous population |
| Pode-Shakked [135] | 2022 | 34 993 602 | Suspected GKD (aged 0–70 years) | 74 | 48% | NGS | Diseas-specific tests/panel | 57% | 85% Jewish ancestry |
| Doreille [28] | 2023 | Adults with unknown CKD < 45 years, clinical suspicion of GKD or planned for live donor | 538 | 42% | ES | Panel testing including customized Groopman nephropathy genes panel | 24% | Excluded ADPKD, 6% diagnosis were copy number variant |