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

ABSTRACT:

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 whit

SUBMITTER: Bleyer AJ 

PROVIDER: S-EPMC6946861 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature