Author:
Lundquist Andrew L.,Pelletier Renee C.,Leonard Courtney E.,Williams Winfred W.,Armstrong Katrina A.,Rehm Heidi L.,Rhee Eugene P.
Abstract
BackgroundGenetic 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.MethodsWe 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.ResultsThirty 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).ConclusionsWe 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.
Publisher
American Society of Nephrology (ASN)
Cited by
17 articles.
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