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

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

Authors :
Bleyer AJ
Kidd K
Robins V
Martin L
Taylor A
Santi A
Tsoumas G
Hunt A
Swain E
Abbas M
Akinbola E
Vidya S
Moossavi S
Bleyer AJ Jr
Živná M
Hartmannová H
Hodaňová K
Vyleťal P
Votruba M
Harden M
Blumenstiel B
Greka A
Kmoch S
Source :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jan; Vol. 22 (1), pp. 142-149. Date of Electronic Publication: 2019 Jul 24.
Publication Year :
2020

Abstract

Purpose: To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases.<br />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.<br />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.<br />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.

Details

Language :
English
ISSN :
1530-0366
Volume :
22
Issue :
1
Database :
MEDLINE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Publication Type :
Academic Journal
Accession number :
31337885
Full Text :
https://doi.org/10.1038/s41436-019-0617-8