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 (CKD) can provide patients and nephrologists with actionable information to guide diagnoses and therapeutic plans. However, many nephrologists do not use genetic testing, despite continually lower costs 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 distributed to board-certified nephrologists (n = 10,054) in the United States. Analytical Approach We analyzed the 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% (107/149) reporting any genetic test use in their practice. Tests were ordered, on average, for 3.8% of their patient population. 35% of responses from nephrologists without a history of genetic test use ranked perceived barriers as "extremely significant" as compared to 23% of responses from those who previously used genetic tests. However, both users and non-users of genetic tests indicated cost (users: 46%, 49/107; non-users 69%, 29/42) and poor availability/ease (users: 33%, 35/107; non-users: 57%; 24/42) of genetic testing as the most significant perceived barriers to implementation. Limitations The survey used in this study was not previously validated; additionally, due to the relatively small number of responses, there may be selection bias among responders. Conclusions Although most nephrologists reported using genetic tests in clinical practice, costs and availability/ease of use were perceived as the most important barriers to routine adoption. These observations indicate that educational programs covering a range of topics from genetics of CKD to test selection may help mitigate these barriers and enhance the use of genetic testing in nephrology practice.