PURPOSE: To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Brigham and Women's Hospital and Harvard Medical School Boston MA USA

Broad Institute of Harvard Medical School and Massachusetts Institute of Technology Cambridge MA USA

Campbell University School of Osteopathic Medicine Lillington NC USA

Children's Health of Carolina Pediatrics Lumberton NC USA

Department of Anesthesiology University of Pennsylvania School of Medicine Philadelphia PA USA

Division of Nephrology and Vascular Biology Research Center Beth Israel Deaconess Medical Center Boston MA USA

East Carolina University Brody School of Medicine Greenville NC USA

Giza Renal Center Giza Egypt

Peace Health Southwest Medical Center Vancouver WA USA

Research Unit for Rare Diseases Department of Pediatrics and Adolescent Medicine 1st Faculty of Medicine Charles University Prague Czech Republic

Section on Nephrology Wake Forest School of Medicine Winston Salem NC USA

West Virginia University School of Medicine Morgantown WV USA

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