MO035: Education needs in diagnosing rare renal diseases: a clinician survey

Abstract

Abstract BACKGROUND AND AIMS There are approximately 300 inherited, congenital or acquired rare kidney diseases known. However, there is a significant delay in their diagnosis, which may result in inappropriate and potentially harmful testing or treatment due to misdiagnosis, or other adverse outcomes due to missed diagnosis. METHOD A 14-question online survey was developed to assess clinician knowledge, experience and educational needs in rare disease. The survey was launched on 31 March 2021 and closed on 2 August 2021. RESULTS A total of 927 physicians specializing in 16 different therapeutic areas participated in the survey. Of those, 60 were nephrologists from the European Union or USA. Approximately 70% of nephrologists considered rare diseases much rarer as compared with standard definitions in the European Union (5 per 10 000) or USA (<200 000). Sixty-seven percent said they never or only rarely (every 6 months to 1 year) see rare disease patients. The majority, 93%, had been involved in a rare disease diagnosis; however, only 20% were mostly or very confident in making such a diagnosis. Barriers differed between US and EU neurologists, with US nephrologists reporting that knowledge of rare disease signs and symptoms, as well as access to diagnostic tests are more often a barrier compared with EU5 nephrologists (Figure 1). When asked about most effective rare disease education, case-based, text-based, and short-format education given by world renowned clinicians were most popular. A comprehensive online learning platform with current, organized education and resources was considered most valuable. CONCLUSION This educational research study identifies gaps in diagnosing rare diseases in nephrology practice and supports the need to develop education for nephrologists on recognizing rare kidney diseases earlier, shortening the diagnostic odyssey and enabling earlier referral and treatment.