Introduction:
The role of genetic testing in kidney disease has assumed more and more importance in recent times with advances in technology and improved recognition of genetic disorders. Broad gene panels can provide unbiased testing approaches, which are advantageous in phenotypically heterogeneous diseases. Also targeted testing can be used in syndromic presentations. Genetic and genomic studies provide important insights into the mechanistic basis of kidney disease and have the potential to identify novel therapeutic targets.
Methods:
Reports of genetic testing ordered exclusively for clinical purposes between 2021 and 2024 in the Nephrology Department of a tertiary care centre were collected and analysed. Testing was performed using whole exome, clinical exome or targeted exome panels by NGS methods (Next Generation Sequencing) Separate tests for CNVs (copy number variants) were done where considered necessary when NGS panels were negative or inconclusive. Positive findings included a monoallelic P/LP (pathogenic/Likely Pathogenic ) variant in an autosomal dominant or X-linked gene and biallelic P/LP variants in autosomal recessive genes. Conclusions regarding variants of uncertain significance were made after doing further analyses as needed.
Results:
60 % of our study population were males. Only 8 % of our patients were born in a consanguineous while the majority were born out of non -consanguineous marriage. Only 20 % of our patients had a significant family history. In patients in whom a genetic cause for renal disease was suspected, around 86 % had a positive genetic result. This was much higher than the results from other studies of such genetic analysis. The most common genetic diagnosis was polycystic kidney disease (15 % ),followed by primary hyperoxaluria (8%), Alport’s syndrome (6%),complement mediated Haemolytic Uremic Syndrome(5%) , and few other rarer diagnosis. Variants of uncertain significance were seen in 21 % of our cases and this final diagnosis was based on account of clinical evaluation and family testing. In few cases ,genetic confirmation helped us in selecting donors. Also in a few cases of nephrotic syndrome genetic studies helped to avoid unnecessary immunosupresion.
Conclusions:
Use of broad panel genetic testing by clinical nephrologists in our centre had a high success rate, similar to results obtained by academic centres specializing in genetics.
I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.