Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

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Field Value
 
Title Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice
 
Creator Agolini, Emanuele
Chimenz, Roberto
Fintini, Danilo
Guarnieri, Vito
Guazzarotti, Laura
Mora, Stefano
Salviati, Leonardo
Weber, Giovanna
 
Subject Genetic testing
Hypophosphatemic rickets
Patient care
PHEX
X-linked hypophosphatemia
XLH diagnosis
 
Description Objective: To provide Italian expert opinion-based practical recommendations to improve the cooperation between clinicians and geneticists in order to optimize diagnostic flow and care of X-linked hypophosphatemia (XLH).
Methods: A panel of four geneticists and four clinicians from Italian reference centers for the diagnosis and management of XLH met virtually, first to highlight the critical issues in patient care and then to identify and share proposals to improve the diagnostic and care path of XLH.
Results: Critical issues emerged regarding the transfer of adequate clinical information from clinicians to geneticists, standardization and clarity of genetic reporting, and adequate interactions between clinicians and geneticists during patients’ follow-up. The necessary requirements for an appropriate request for evaluation of genetic variants and the need for a clear and clinically useful genetic report were agreed upon. Specifically designed template forms to be adopted with appropriate adjustments were defined and are here proposed for both the clinician’s request and the geneticist’s report.
Conclusions: The expert group strongly believes that collaboration between clinicians and geneticists should be encouraged in XLH, not only in the diagnostic phase but also during a patient’s follow-up, in order to manage patients more comprehensively and effectively.
 
Publisher AboutScience srl - Piazza Duca d'Aosta 12 - 20124 Milano MI (Italy)
 
Date 2021-04-19
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Original Research Article
 
Format application/pdf
application/epub+zip
text/html
 
Identifier https://journals.aboutscience.eu/index.php/aboutopen/article/view/2235
10.33393/ao.2021.2235
 
Source AboutOpen; Vol. 8 No. 1 (2021): January-December 2021; 29-33
AboutOpen; V. 8 N. 1 (2021): January-December 2021; 29-33
2465-2628
 
Language eng
 
Relation https://journals.aboutscience.eu/index.php/aboutopen/article/view/2235/2336
https://journals.aboutscience.eu/index.php/aboutopen/article/view/2235/2337
https://journals.aboutscience.eu/index.php/aboutopen/article/view/2235/2338
 
Rights Copyright (c) 2021 The Authors
 

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