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

Abstract

Rationale & objective: The 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 design: We conducted a survey to uncover the perceptions of general adult nephrologists about the utility of and barriers to genetic testing in clinical practice.

Setting & participants: The online survey was administered to board-certified nephrologists (n = 10,054) in the United States.

Analytical approach: We analyzed demographic characteristics of the survey respondents and their responses in the context of their use of genetic testing in routine clinical practice.

Results: A 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.

Limitations: The 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.

Conclusions: Although 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.

Keywords: Genetic testing; disease; disorders; familial; hereditary; inherited; kidney; next-generation sequencing; renal; survey.