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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.

SUBMITTER: Bleyer AJ

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

REPOSITORIES: biostudies-literature

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

Bleyer Anthony J AJ Kidd Kendrah K Robins Victoria V Martin Lauren L Taylor Abbigail A Santi Annie A Tsoumas Georgeanna G Hunt Alese A Swain Elizabeth E Abbas Marwan M Akinbola Ebun E Vidya Sri S Moossavi Shahriar S Bleyer Anthony J AJ Živná Martina M Hartmannová Hana H Hodaňová Kateřina K Vyleťal Petr P Votruba Miroslav M Harden Maegan M Blumenstiel Brendan B Greka Anna A Kmoch Stanislav S

Genetics in medicine : official journal of the American College of Medical Genetics 20190724 1

<h4>Purpose</h4>To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases.<h4>Methods</h4>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.<h4>Results</h4>Over 21 years, there were 665 referrals, with 176 (27%) direct ...[more]

PMID: 31337885

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Project description:BackgroundFor a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outstanding molecular investigations, common protocols and dedicated actions at national and international levels; thus, many "Undiagnosed RDs programs" have been gradually developed on the grounds of a well-structured multidisciplinary approach.MethodsThe Italian Undiagnosed Rare Diseases Network (IURDN) was established in 2016 to improve the level of diagnosis of persons with URD living in Italy. Six Italian Centres of Expertise represented the network. The National Centre for Rare Diseases at the Istituto Superiore di Sanità coordinates the whole project. The software PhenoTips was used to collect the information of the clinical cases.ResultsOne hundred and ten cases were analysed between March 2016 and June 2019. The age of onset of the diseases ranged from prenatal age to 51 years. Conditions were predominantly sporadic; almost all patients had multiple organs involvements. A total of 13/71 family cases were characterized by WES; in some families more than one individual was affected, so leading to 20/71 individuals investigated. Disease causing variants were identified in two cases and were associated to previously undescribed phenotypes. In 5 cases, new candidate genes were identified, although confirmatory tests are pending. In three families, investigations were not completed due to the scarce compliance of members and molecular investigations were temporary suspended. Finally, three cases (one familial) remain still unsolved. Twelve undiagnosed clinical cases were then selected to be shared at International level through PhenomeCentral in accordance to the UDNI statement.ConclusionsOur results showed a molecular diagnostic yield of 53,8%; this value is comparable to the diagnostic rates reported in other international studies. Cases collected were also pooled with those collected by UDNI International Network. This represents a unique example of global initiative aimed at sharing and validating knowledge and experience in this field. IURDN is a multidisciplinary and useful initiative linking National and International efforts aimed at making timely and appropriate diagnoses in RD patients who still do not have a confirmed diagnosis even after a long time.

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

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

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