Red Flags Overlooked? Missed Opportunities for Genetic Testing in Clinical Nephrology Practice

Résumé fourni par la source

Background: Clinical genetic testing is increasingly used in the diagnosis and management of kidney disease. Recent recommendations defined the "red flags" that should trigger referral to genetic testing (GT) or counseling, including certain kidney diagnoses, age of onset, extra-renal manifestations, and familial history of kidney disease. Methods: Members of the National Kidney Foundation (NKF) with self-reported kidney disease were invited to complete a survey through an email sent by the NKF in November and December 2024. We collected individuals’ demographics, personal and familial medical history, discussion of GT with their providers, and utilization of GT. Results: A total of 1,168 individuals from 49 States responded to the survey, with 83% (n=972) being over the age of 50y old, 60% (n=703) females 73% (n=852) self-reported being non-Hispanic White, 12% (n=137) non-Hispanic Black or African American, 6% (n=70) Hispanic, 3% (n=39) Asian, non-Hispanic and 6% (n=70) other, unsure or prefer not to share. Of the respondents, 13% (n=148) had a high school education or less, 31% (n=363) had some college education, 29% (n=342) held a bachelor's degree, and 27% (n=312) had a graduate degree. Overall, 72% (n=837) reported at least one red flag, with 51% (n=599) having developed kidney disease before the age of 50y old, 42% having family history of kidney disease, 17% (n=193) having extra-renal manifestations, 15% (n=173) having a clinical diagnosis that should trigger a discussion about GT based on experts’ recommendations, and 10% (n=114) having a clinical diagnosis of a genetic form of kidney disease. Of the 837 respondents with at least one red flag, 80% (n=670) reported that their provider did not discuss GT with them, including 80% (n=351) of the 438 with a clinical diagnosis for which GT is recommended and 79% (n=368) of the 468 with positive family history. Among the 55 respondents with four red flags, 74% (n=41) reported that their provider did not discuss GT. Conclusion: This study underscores a gap between the high prevalence of indications for GT and the limited utilization of GT by providers. Moving forward, we aim to explore whether patients’ sociodemographic characteristics are associated with the likelihood of providers initiating discussions about GT. Funding: NIDDK Support

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