From Theory to Reality: Establishing a Successful Kidney Genetics Clinic in the Outpatient Setting

Abstract

Background: Genetic testing in nephrology is increasingly described in the literature and several groups have suggested significant clinical benefit. However, studies to date have described experience from established genetic testing centers or from externally funded research programs.

Methods: We established a de novo kidney genetics clinic within an academic adult general nephrology practice. Key features of this effort included a pipeline for internal referrals, flexible scheduling, close coordination between the nephrologist and a genetic counselor, and utilization of commercial panel-based testing. Over the first year, we examined the outcomes of genetic testing, the time to return of genetic testing, and out-of-pocket cost to patients.

Results: Thirty patients were referred and 23 were evaluated over the course of five clinic sessions. Nineteen patients underwent genetic testing with new diagnoses in nine patients (47%), inconclusive results in three patients (16%), and clearance for kidney donation in two patients (11%). On average, return of genetic results occurred 55 days (range 9-174 days) from the day of sample submission and the average out-of-pocket cost to patients was $155 (range $0-$1623).

Conclusions: We established a kidney genetics clinic, without a pre-existing genetics infrastructure or dedicated research funding, that identified a new diagnosis in approximately 50% of patients tested. This study provides a clinical practice model for successfully incorporating genetic testing into ambulatory nephrology care with minimal capital investment and limited financial effect on patients.

Keywords: ambulatory care facilities; familial nephropathy; genetic kidney disease; genetics; kidney dysfunction; outpatients.

Graphical abstract

Figure 1.

Kidney genetics clinic workflow. Patients were referred through multiple pathways and cases were reviewed before the clinic visit. The commercial testing platform coordinated with the insurance company to determine coverage or cost to the patient. Samples were processed if cost was acceptable to the patient.

Figure 2.

Genetic testing resulted in a new diagnosis in nearly 50% of patients tested in the first year (N=9/19). All samples were sent for commercial gene panel testing. Inconclusive results consisted of variants of uncertain significance, or a single heterozygous variant in a recessive disease gene. Cleared to donate is a subset of the no pathogenic variant identified category.

Figure 3.

Genetic testing identified the etiology and facilitated evaluation of a famliy member as a kidney donor in this family with CKD. Additional genetic testing revealed that the proband’s paternal aunt with ESKD had the same uromodulin (UMOD) variant, whereas her sister did not, allowing her sister to be evaluated as a potential kidney donor.