Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

The time required to reach a correct diagnosis is a key concern for rare disease (RD) patients. Diagnostic delay can be intolerably long, often described as an “odyssey” and, for some, a diagnosis may remain frustratingly elusive. The International Rare Disease Research Consortiu...

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Bibliographic Details
Main Authors: Sabina Gainotti, Deborah Mascalzoni, Virginie Bros-Facer, Carlo Petrini, Giovanna Floridia, Marco Roos, Marco Salvatore, Domenica Taruscio
Format: Article
Language:English
Published: MDPI AG 2018-09-01
Series:International Journal of Environmental Research and Public Health
Subjects:
undiagnosed rare diseases
diagnostic odyssey
next generation sequencing
deep phenotyping
genomic matchmaking
secondary findings
patient involvement
Online Access:http://www.mdpi.com/1660-4601/15/10/2072

Internet

http://www.mdpi.com/1660-4601/15/10/2072

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