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• W2964320812 abstract "PurposeTo evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases.MethodsRetrospective 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.ResultsOver 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.ConclusionUndiagnosed 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." @default.
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• W2964320812 date "2020-01-01" @default.
• W2964320812 modified "2023-10-15" @default.
• W2964320812 title "Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases" @default.
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• W2964320812 doi "https://doi.org/10.1038/s41436-019-0617-8" @default.
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