Broad panel genetic testing found effective for diagnosing patients with kidney disease
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A kidney disease panel for 382 genes yielded a high success rate and was effective in identifying monogenic variants underlying inherited kidney diseases, according to data published in the American Journal of Nephrology.
“Recently, Natera Inc. developed a next-generation sequencing (NGS)-based broad panel test for the identification of monogenic causes of chronic kidney disease. This panel encompasses genes associated with disorders spanning multiple types of kidney diseases, including cystic, tubulointerstitial, glomerular, tubular and structural disorders,” Anthony J. Bleyer, MD, from Wake Forest School of Medicine in Winston Salem, South Carolina, and colleagues wrote. They added, “The panel, which included 382 genes, was designed to capture both well-established and rare genetic kidney diseases, as well as multi-organ syndromes that may be missed through targeted tests. The panel is available to clinicians in the United States of America, and the ordering of this test is solely at the discretion of the clinical nephrologist and the patient.”
In a retrospective analysis, researchers reviewed and presented the genetic findings of 1,007 tests performed with the NGS-based broad panel between May and September 2020. The panel included genes associated with diabetic nephropathies, complement-related kidney disorders, congenital anomalies of the kidney and urinary tract in addition to other disorders.
Using the American College of Medical Genetics and Genomics guideline for sequence variant interpretation, researchers defined variants as pathogenic (P), likely pathogenic (LP), variants of uncertain significance (VUS) and likely benign and benign. Researchers considered a monoallelic P/LP variant in an autosomal dominant or X-linked gene and biallelic P/LP variant in autosomal recessive genes to be positive findings.
Among the 1,007 cases, 212 showed positive results. Additionally, researchers identified 220 positive results across 48 genes, most frequently in the PKD1 (34.1%), COL4A5 (10.9%), PKD2 (10%), COL4A4 (6.4%), COL4A3 (5.9%) and TTR (4.1%) genes.
“The use of a broad panel for genetic diagnosis for kidney diseases has multiple advantages for clinicians, minimizing the need to identify the correct genetic panel or prioritize panels for individuals with an overlap of symptoms. Use of a single test for a wide range of patients allows physicians to become familiar with a single process for ordering, insurance ascertainment, cost and results reporting, which have previously been identified as obstacles for use of genetic testing among nephrologists,” Bleyer and colleagues wrote. They added, “These findings indicate that a broad kidney disease gene panel is highly effective in identifying monogenic variants underlying inherited kidney diseases and has utility for genetic diagnoses in the nephrology setting.”
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