Beyond DNA sequencing: genetic kidney disorders related to altered splicing.

The article discusses the use of genetic diagnostics in nephrology practice, specifically in relation to genetic kidney disorders. Genetic diagnosis has various impacts on healthcare outcomes, including personalized medicine, avoidance of invasive procedures, and prognostic information. Exome-based testing is commonly used and has a diagnostic yield of approximately 10% in unselected cohorts and up to 65% in clinical cohorts referred for genetic investigation. However, the yield of exome-based sequencing is lower than expected in some cases, possibly due to limitations in detecting atypical variants. The article suggests that focusing on variants that impact splicing could improve diagnostic yield, as these variants are often missed by exome sequencing. The use of genome-wide sequencing technologies, such as long-read sequencing, could also enhance diagnostic yield by investigating beyond coding regions. However, further research and validation are needed to effectively implement these technologies in clinical practice. The article emphasizes the importance of systematic and evidence-based approaches to maximize the potential of genetic diagnostics. It also highlights the benefits of genetic diagnosis in reducing uncertainty for patients and improving clinical decision-making. The authors conclude that exome sequencing may not remain the standard-of-care in the long term, and efforts should be made to explore and implement newer technologies. The study was funded by various foundations and organizations, and the authors declare no conflicts of interest. [Extracted from the article]

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