Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases
| Autor: | Victoria Robins, Maegan Harden, Anna Greka, Miroslav Votruba, Alese Hunt, Petr Vyleťal, Sri Vidya, Hana Hartmannová, Shahriar Moossavi, Georgeanna Tsoumas, Brendan Blumenstiel, Kateřina Hodaňová, Anthony J. Bleyer, Kendrah Kidd, Martina Živná, Annie Santi, Marwan Abbas, Lauren Martin, Stanislav Kmoch, Elizabeth Swain, Abbigail Taylor, Ebun Akinbola |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Referral uromodulin education Medical laboratory rare disease 030105 genetics & heredity Zip code Article 03 medical and health sciences Rare Diseases medicine Humans Genetic Testing Referral and Consultation Genetics (clinical) Retrospective Studies Genetic testing Internet Self Referral medicine.diagnostic_test business.industry Retrospective cohort study Middle Aged medicine.disease autosomal dominant tubulo-interstitial kidney disease 3. Good health 030104 developmental biology Family medicine Female Kidney Diseases business mucin-1 Kidney disease Rare disease |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/s41436-019-0617-8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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