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 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.

Figure 1.. Flow diagram of all referrals for evaluation for autosomal dominant tubulointerstitial kidney disease (ADTKD).

Flow diagram of 828 family referrals for ADTKD evaluation.

Figure 2.. Temporal distribution for referral type.

Red represents direct family referrals, blue represents academic healthcare providers (HCP), and aqua represents non-academic HCP.

Figure 3.. Temporal distribution for method of referral.

Red represents direct family referral via the Internet, with all family referrals being generated through Internet searches. Blue represents health care provider (HCP) personal contact, including personal contact between the first author and the provider, colleague referral, and also lectures given by the first author. Green represents HCP referrals via Internet searches. Purple represents HCP referrals via reading of the literature. Aqua represents HCP referrals via mass mailing.