Patient and Provider Perspectives on Genetic Testing for Kidney Diseases: A Qualitative Study

Background: Although genetic testing is increasingly used in nephrology practice, patient and provider perspectives on its use and impact remain understudied. Methods: Using purposive sampling, we recruited 20 adult patient participants from Nephrology Clinics and 12 volunteer practicing Nephrologists at a safety-net hospital in Boston, Massachusetts. We conducted individual semi-structured interviews to examine patients’ and providers’ perspectives on genetic testing for kidney disease. Interviews were audiotaped, transcribed verbatim, and analyzed using thematic content analysis. Results: Among patient participants, 10 (50%) were women, 6 (30%) identified as Latinx or Hispanic, and 5 (25%) as Black or African American. Among providers, the average number of years as a Nephrology attending was 18 ± 13. Three key themes emerged from both patient and provider interviews. Most patients viewed genetic testing as a valuable tool for managing their condition but also a source of stress, due to concerns about implications for themselves and their families. A second theme was a strong desire for more educational resources, with 8 (40%) reporting difficulty understanding medical materials and needing support before and after testing. A third theme related to privacy, with patients generally expressing minimal concern. Among providers, the first theme was Nephrologists’ positive perception of genetic testing, primarily used for patients with strong family histories, younger individuals with uncertain diagnoses, transplant candidates, or suspected polycystic kidney disease. Second, while Nephrologists felt comfortable explaining common kidney-related genetic concepts, they acknowledged limitations in their expertise and a need for more support from genetic counselors, training, and educational tools. The third theme centered on challenges interpreting and communicating variants of uncertain significance (VUS), compounded by a lack of standardized practices and systems to store or revisit VUS results that may later become clinically relevant. Conclusion: This study underscores a shared need among patients and providers for improved education, resources, and support around genetic testing for kidney disease.