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Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0617-8. [Epub ahead of print]

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

Author information

1
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA. ableyer@wakehealth.edu.
2
Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic. ableyer@wakehealth.edu.
3
Broad Institute of Harvard Medical School and Massachusetts Institute of Technology, Cambridge, MA, USA. ableyer@wakehealth.edu.
4
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
5
Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
6
Department of Anesthesiology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
7
Campbell University School of Osteopathic Medicine, Lillington, NC, USA.
8
Children's Health of Carolina Pediatrics, Lumberton, NC, USA.
9
West Virginia University School of Medicine, Morgantown, WV, USA.
10
Giza Renal Center, Giza, Egypt.
11
East Carolina University, Brody School of Medicine, Greenville, NC, USA.
12
Peace Health Southwest Medical Center, Vancouver, WA, USA.
13
Broad Institute of Harvard Medical School and Massachusetts Institute of Technology, Cambridge, MA, USA.
14
Division of Nephrology and Vascular Biology Research Center, Beth Israel Deaconess Medical Center, Boston, MA, USA.
15
Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

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 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.

KEYWORDS:

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

PMID:
31337885
DOI:
10.1038/s41436-019-0617-8

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