Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases

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To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases.


Retrospective study from 1996 to 2017 analyzing data from an academic referral center specializing in autosomal dominant tubulointerstitial kidney disease (ADTKD). Individuals were referred by academic health-care providers (HCPs) nonacademic HCPs, or directly by patients/families.


Over 21 years, there were 665 referrals, with 176 (27%) directly from families, 269 (40%) from academic HCPs, and 220 (33%) from nonacademic HCPs. Forty-two (24%) direct family referrals had positive genetic testing versus 73 (27%) families from academic HCPs and 55 (25%) from nonacademic HCPs (P = 0.72). Ninety-nine percent of direct family contacts were white and resided in zip code locations with a mean median income of $77,316 ± 34,014 versus US median income $49,445.


Undiagnosed families with Internet access bypassed their physicians and established direct contact with an academic center specializing in inherited kidney disease to achieve a diagnosis. Twenty-five percent of all families diagnosed with ADTKD were the result of direct family referral and would otherwise have been undiagnosed. If patients suspect a rare disorder that is undiagnosed by their physicians, actively pursuing self-diagnosis using the Internet can be successful. Centers interested in rare disorders should consider improving direct access to families.

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This work was supported by NIH–National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK_ R21 DK106584), project NV17-29786A from the Ministry of Health of the Czech Republic, LQ1604 NPU II from the Ministry of Education of the Czech Republic, and by institutional programs of Charles University in Prague (UNCE 204064, PROGRES-Q26/LF1 and SVV 260367/2017), and the Carlos Slim Foundation.

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Correspondence to Anthony J. Bleyer MD.

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  • internet
  • rare disease
  • autosomal dominant tubulointerstitial kidney disease
  • uromodulin
  • mucin-1