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

Genet Med. 2020 Jan;22(1):142-149. doi: 10.1038/s41436-019-0617-8. Epub 2019 Jul 24.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Genetic Testing
  • Humans
  • Internet
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / genetics
  • Male
  • Middle Aged
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics
  • Referral and Consultation / classification*
  • Referral and Consultation / statistics & numerical data
  • Retrospective Studies