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. 2020 Oct 30;2(1):90-104.
doi: 10.34067/KID.0002272020. eCollection 2021 Jan 28.

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases

Nasim Bekheirnia  1 , Kevin E Glinton  2 , Linda Rossetti  2 , Joshua Manor  2 , Wuyan Chen  3 , Dolores J Lamb  4 , Michael C Braun  1 , Mir Reza Bekheirnia  1   2
Affiliations

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases

Nasim Bekheirnia et al. Kidney360. .

Abstract

Background: As genetic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at our large, urban children's hospital for patients with kidney disorders.

Methods: Genetic testing was performed in Clinical Laboratory Improvement Amendments-certified laboratories using single gene testing, multigene panels, chromosomal microarray, or exome sequencing.

Results: A total of 192 patients were evaluated in this clinic, with cystic kidney disease (49/192) being the most common reason for referral, followed by congenital anomalies of the kidney and urinary tract (41/192) and hematuria (38/192). Genetic testing was performed for 158 patients, with an overall diagnostic yield of 81 out of 158 (51%). In the 16 out of 81 (20%) of patients who reached a genetic diagnosis, medical or surgical treatment of the patients were affected, and previous clinical diagnoses were changed to more accurate genetic diagnoses in 12 of 81 (15%) patients.

Conclusions: Our genetic testing provided an accurate diagnosis for children and, in some cases, led to further diagnoses in seemingly asymptomatic family members and changes to overall medical management. Genetic testing, as facilitated by such a specialized clinical setting, thus appears to have clear utility in the diagnosis and counseling of patients with a wide range of kidney manifestations.

Keywords: Renal Genetics Clinic; data collection; genetic testing; genetics; kidney disease; urologic diseases.

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Conflict of interest statement

W. Chen reports receiving other from PreventionGenetics LLC, during the conduct of the study, and other from PreventionGenetics LLC, outside the submitted work. D.J. Lamb reports receiving other from Celmatix, and other from Fellow, outside the submitted work. All remaining authors have nothing to disclose.

Figures

None
Graphical abstract
Figure 1.
Figure 1.
Overlaps between L1, L2, L3, L4, and L5 are demonstrated as a Venn diagram. In 3 patients both L1 and L2 were noted. L1, effect on medical and/or surgical treatment; L2, change of medical diagnosis; L3, providing diagnostic certainty; L4, subsequent evaluation of other body-system involvement; L5, cascade family member testing.
See this image and copyright information in PMC

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