Improving Diagnostic Precision With Genetic Testing

Credit: Original article published here.Monogenic kidney diseases are associated with approximately 10% of occurrences of chronic kidney disease (CKD). According to Fouad Chebib, MD, and colleagues, while there are clinical diagnostic criteria available for many renal conditions, there remains a high incidence of misdiagnosis. Genetic testing is available to reclassify or provide an accurate CKD diagnosis, and it can enable personalized disease management. The researchers conducted a comparison study to describe the utility of genetic findings to confirm, clarify, or reclassify a clinical diagnosis among participants in the RenaCARE study. Results were reported during a poster session at the National Kidney Foundation Spring Clinical Meetings 2023 in a poster titled The Impact of Genetic Test Results on Kidney Disease Diagnosis. Clinicians provided clinical diagnosis and history for each enrolled patient; the data were compared with results of genetic testing with a next-generation sequencing-based 365-kidney gene panel (the Renasight test). Positive genetic results were reported. Clinical history was compared with known results of patients’ genetic findings, and the impacts of genetic testing on each clinical diagnosis were identified. The study enrolled 1624 patients. Mean age was 55 years (range, 18-96 years). The researchers assessed 318 patients with variant(s) in a single

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