Improving Diagnostic Precision With Genetic Testing

By Victoria Socha - Last Updated: April 14, 2023

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 gene. Findings from the genetic assessment provided a new or clarified clinical diagnosis for 39.0% (n=124) of those patients and confirmed suspected diagnoses in 33.6% (n=107).

The genetic findings also classified 17.3% of patients (n=55) as at risk for developing illness based on inconsistency between the identified variants and the reported clinical history. Clinical presentation was partially explained by the genetic findings in 5.3% of patients (n=17), and 3.5% (n=11) had a correlation of a clinical diagnosis that also reclassified the category of kidney disease. Finally, in 1.3% of cases (n=4), the genetic diagnosis was consistent with the patients’ clinical presentation but was not acknowledged as the disease etiology by the physician.

In conclusion, the authors said, “This study demonstrated that broad-panel genetic testing had significant impacts on patient CKD diagnoses, enabling discernment of diagnosis and presentations that may have been overlooked or misattributed by clinical evaluation alone. The inclusion of genetic findings into CKD evaluation will allow physicians to tailor patient care with improved precision.”

Source: Chebib F, Jandeska S, Westemeyer M, et al. The impact of genetic test results on kidney disease diagnosis. Poster #345. Abstract of a poster presented at the National Kidney Foundation Spring Clinical Meetings 2023; April 11-15, 2023; Austin, Texas.

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