Cargando…

Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases

PURPOSE: To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. METHODS: Retrospective study from 1996–2017 analyzing data from an academic referral center specializing in autosomal dominant tubulo-interstitial kidney disease (ADTKD). Individuals...

Descripción completa

Detalles Bibliográficos
Autores principales: Bleyer, Anthony J., Kidd, Kendrah, Robins, Victoria, Martin, Lauren, Taylor, Abbigail, Santi, Annie, Tsoumas, Georgeanna, Hunt, Alese, Swain, Elizabeth, Abbas, Marwan, Akinbola, Ebun, Vidya, Sri, Moossavi, Shahriar, Živná, Martina, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Votruba, Miroslav, Harden, Maegan, Blumenstiel, Brendan, Greka, Anna, Kmoch, Stanislav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946861/
https://www.ncbi.nlm.nih.gov/pubmed/31337885
http://dx.doi.org/10.1038/s41436-019-0617-8
_version_ 1783485445808586752
author Bleyer, Anthony J.
Kidd, Kendrah
Robins, Victoria
Martin, Lauren
Taylor, Abbigail
Santi, Annie
Tsoumas, Georgeanna
Hunt, Alese
Swain, Elizabeth
Abbas, Marwan
Akinbola, Ebun
Vidya, Sri
Moossavi, Shahriar
Bleyer, Anthony J.
Živná, Martina
Hartmannová, Hana
Hodaňová, Kateřina
Vyleťal, Petr
Votruba, Miroslav
Harden, Maegan
Blumenstiel, Brendan
Greka, Anna
Kmoch, Stanislav
author_facet Bleyer, Anthony J.
Kidd, Kendrah
Robins, Victoria
Martin, Lauren
Taylor, Abbigail
Santi, Annie
Tsoumas, Georgeanna
Hunt, Alese
Swain, Elizabeth
Abbas, Marwan
Akinbola, Ebun
Vidya, Sri
Moossavi, Shahriar
Bleyer, Anthony J.
Živná, Martina
Hartmannová, Hana
Hodaňová, Kateřina
Vyleťal, Petr
Votruba, Miroslav
Harden, Maegan
Blumenstiel, Brendan
Greka, Anna
Kmoch, Stanislav
author_sort Bleyer, Anthony J.
collection PubMed
description PURPOSE: To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. METHODS: Retrospective study from 1996–2017 analyzing data from an academic referral center specializing in autosomal dominant tubulo-interstitial kidney disease (ADTKD). Individuals were referred by academic health care providers (HCPs) non-academic 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 non-academic HCPs. 42(24%) of direct family referrals had positive genetic testing vs 73(27%) of families from academic HCPs and 55(25%) from non-academic HCPs (P=.72). 99% of direct family contacts were white and resided in zip code locations with a mean median income of $77,316±34,014 vs. US median income $49,445. CONCLUSIONS: 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 per cent of all families diagnosed with ADTKD were the result of direct family referral and would otherwise have been un-diagnosed. If patients suspect a rare disorder that is un-diagnosed 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.
format Online
Article
Text
id pubmed-6946861
institution National Center for Biotechnology Information
language English
publishDate 2019
record_format MEDLINE/PubMed
spelling pubmed-69468612020-01-24 Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases Bleyer, Anthony J. Kidd, Kendrah Robins, Victoria Martin, Lauren Taylor, Abbigail Santi, Annie Tsoumas, Georgeanna Hunt, Alese Swain, Elizabeth Abbas, Marwan Akinbola, Ebun Vidya, Sri Moossavi, Shahriar Bleyer, Anthony J. Živná, Martina Hartmannová, Hana Hodaňová, Kateřina Vyleťal, Petr Votruba, Miroslav Harden, Maegan Blumenstiel, Brendan Greka, Anna Kmoch, Stanislav Genet Med Article PURPOSE: To evaluate self-referral from the Internet for genetic diagnosis of several rare inherited kidney diseases. METHODS: Retrospective study from 1996–2017 analyzing data from an academic referral center specializing in autosomal dominant tubulo-interstitial kidney disease (ADTKD). Individuals were referred by academic health care providers (HCPs) non-academic 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 non-academic HCPs. 42(24%) of direct family referrals had positive genetic testing vs 73(27%) of families from academic HCPs and 55(25%) from non-academic HCPs (P=.72). 99% of direct family contacts were white and resided in zip code locations with a mean median income of $77,316±34,014 vs. US median income $49,445. CONCLUSIONS: 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 per cent of all families diagnosed with ADTKD were the result of direct family referral and would otherwise have been un-diagnosed. If patients suspect a rare disorder that is un-diagnosed 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. 2019-07-24 2020-01 /pmc/articles/PMC6946861/ /pubmed/31337885 http://dx.doi.org/10.1038/s41436-019-0617-8 Text en http://www.nature.com/authors/editorial_policies/license.html#terms Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Bleyer, Anthony J.
Kidd, Kendrah
Robins, Victoria
Martin, Lauren
Taylor, Abbigail
Santi, Annie
Tsoumas, Georgeanna
Hunt, Alese
Swain, Elizabeth
Abbas, Marwan
Akinbola, Ebun
Vidya, Sri
Moossavi, Shahriar
Bleyer, Anthony J.
Živná, Martina
Hartmannová, Hana
Hodaňová, Kateřina
Vyleťal, Petr
Votruba, Miroslav
Harden, Maegan
Blumenstiel, Brendan
Greka, Anna
Kmoch, Stanislav
Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases
title Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases
title_full Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases
title_fullStr Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases
title_full_unstemmed Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases
title_short Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases
title_sort outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6946861/
https://www.ncbi.nlm.nih.gov/pubmed/31337885
http://dx.doi.org/10.1038/s41436-019-0617-8
work_keys_str_mv AT bleyeranthonyj outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT kiddkendrah outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT robinsvictoria outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT martinlauren outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT taylorabbigail outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT santiannie outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT tsoumasgeorgeanna outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT huntalese outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT swainelizabeth outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT abbasmarwan outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT akinbolaebun outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT vidyasri outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT moossavishahriar outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT bleyeranthonyj outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT zivnamartina outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT hartmannovahana outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT hodanovakaterina outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT vyletalpetr outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT votrubamiroslav outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT hardenmaegan outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT blumenstielbrendan outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT grekaanna outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases
AT kmochstanislav outcomesofpatientselfreferralforthediagnosisofseveralrareinheritedkidneydiseases