Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.

ABSTRACT: Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine. Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic testing can identify a specific etiology and meaningfully impact management. However, with numerous options for genetic testing available, nephrologists may feel uncomfortable integrating genetics into their clinical practice. Here, we aim to demystify the process of genetic test selection and highlight the opportunities for interdisciplinary collaboration between nephrologists and genetics professionals, thereby suppo

SUBMITTER: Groopman E 

PROVIDER: S-EPMC11993218 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature