Genetic Testing for Chronic Kidney Diseases: Clinical Utility and Barriers Perceived by Nephrologists

Michal Mrug,Michelle S Bloom,Christine Seto,Meenakshi Malhotra,Hossein Tabriziani,Philippe Gauthier,Vicki Sidlow,Trudy Mckanna,Paul R Billings

doi:10.1016/j.xkme.2021.08.006

Abstract

Rationale & ObjectiveThe identification of pathogenic variants in genes associated with chronic kidney disease can provide patients and nephrologists with actionable information to guide diagnoses and therapeutic plans. However, many nephrologists do not use genetic testing despite costs decreasing over time and more widespread availability.Study DesignWe conducted a survey to uncover the perceptions of general adult nephrologists about the utility of and barriers to genetic testing in clinical practice.Setting & ParticipantsThe online survey was administered to board-certified nephrologists (n = 10,054) in the United States.Analytical ApproachWe analyzed demographic characteristics of the survey respondents and their responses in the context of their use of genetic testing in routine clinical practice.ResultsA total of 149 nephrologists completed the survey, with 72% (107 of 149) reporting genetic test use in their practice. On average, tests were ordered for 3.8% of their patient population. Thirty-five percent of responses from nephrologists without a history of genetic test use ranked perceived barriers as “extremely significant” compared with 23% of responses from those who had previously used genetic tests. However, both users and nonusers of genetic tests indicated high cost (users: 46%, 49 of 107; nonusers 69%, 29 of 42) and poor availability or lack of ease (users: 33%, 35 of 107; nonusers: 57%; 24 of 42) of genetic testing as the most significant perceived barriers to implementation.LimitationsThe survey used in this study was not previously validated; additionally, because of the relatively small number of responses, there might have been a selection bias among the responders.ConclusionsAlthough most nephrologists reported using genetic tests in clinical practice, high costs and poor availability or the lack of ease of use were perceived as the most important barriers to routine adoption. These observations indicate that educational programs that cover a range of topics, from genetics of chronic kidney disease to selection of the test, may help mitigate these barriers and enhance the use of genetic testing in nephrology practice.

Highlights

Chronic kidney disease (CKD) is a significant public health challenge with few curative therapies and a prevalence of ~15% in the United States.1 In 2017, chronic kidney disease (CKD) affected ~700 million people globally, leading to 1.2 million deaths.2 In the most severe cases, CKD progresses into end-stage kidney disease (ESRD), which requires costly kidney replacement therapies such as dialysis or kidney transplantation.3 Moderately advancedJournal Pre-proof CKD can cause multi-organ complications that increase morbidity and mortality
Our study revealed that most nephrologists who responded to our survey have a history of using genetic testing (72%) and that they appreciate its value in the management of inherited forms of CKD
It is expected that an enhanced understanding of relevant genetic factors that contribute to kidney function loss will foster broader adoption of genetic testing by general nephrologists

Summary

Introduction

Chronic kidney disease (CKD) is a significant public health challenge with few curative therapies and a prevalence of ~15% in the United States. In 2017, CKD affected ~700 million people globally, leading to 1.2 million deaths. In the most severe cases, CKD progresses into end-stage kidney disease (ESRD), which requires costly kidney replacement therapies such as dialysis or kidney transplantation. Moderately advancedJournal Pre-proof CKD can cause multi-organ complications that increase morbidity and mortality. Chronic kidney disease (CKD) is a significant public health challenge with few curative therapies and a prevalence of ~15% in the United States.. In 2017, CKD affected ~700 million people globally, leading to 1.2 million deaths.. In the most severe cases, CKD progresses into end-stage kidney disease (ESRD), which requires costly kidney replacement therapies such as dialysis or kidney transplantation.. Journal Pre-proof CKD can cause multi-organ complications that increase morbidity and mortality. CKD is a major risk factor for cardiovascular disease (CVD). In 2017, deaths due to CKD and CKD-attributable CVD accounted for 4.6% of worldwide all-cause mortality.

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