Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy

Francesca Simonelli,1 Andrea Sodi,2 Benedetto Falsini,3,4 Giacomo Bacci,5 Giancarlo Iarossi,6 Valentina Di Iorio,1 Dario Giorgio,2 Giorgio Placidi,3,4 Assia Andrao,7 Luigi Reale,8 Alessandra Fiorencis,8 Manar Aoun9 1Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, U...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Simonelli F, Sodi A, Falsini B, Bacci G, Iarossi G, Di Iorio V, Giorgio D, Placidi G, Andrao A, Reale L, Fiorencis A, Aoun M
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	irds management multidisciplinary inherited retinal dystrophies diagnosis patient’s pathway Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/dfa46366eb0948118b32d36b4d411604
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:dfa46366eb0948118b32d36b4d411604
record_format	dspace
institution	DOAJ
collection	DOAJ
language	EN
topic	irds management multidisciplinary inherited retinal dystrophies diagnosis patient’s pathway Ophthalmology RE1-994
spellingShingle	irds management multidisciplinary inherited retinal dystrophies diagnosis patient’s pathway Ophthalmology RE1-994 Simonelli F Sodi A Falsini B Bacci G Iarossi G Di Iorio V Giorgio D Placidi G Andrao A Reale L Fiorencis A Aoun M Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
description	Francesca Simonelli,1 Andrea Sodi,2 Benedetto Falsini,3,4 Giacomo Bacci,5 Giancarlo Iarossi,6 Valentina Di Iorio,1 Dario Giorgio,2 Giorgio Placidi,3,4 Assia Andrao,7 Luigi Reale,8 Alessandra Fiorencis,8 Manar Aoun9 1Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “L. Vanvitelli”, Naples, Italy; 2Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; 3UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; 4Dipartimento Testa-collo e organi di senso, Università Cattolica del Sacro Cuore, Rome, Italy; 5Paediatric Ophthalmology Unit, Children’s Hospital “A. Meyer”, University of Florence, Florence, Italy; 6Ophthalmology Department, Bambino Gesù IRCCS Paediatric Hospital, Rome, Italy; 7Retina Italia Onlus Association, Milan, Italy; 8Healthcare Department, Fondazione ISTUD, Milan, Italy; 9Medical Department, Novartis Farma, Origgio, ItalyCorrespondence: Luigi RealeHealthcare Department, Fondazione ISTUD, via Paolo Lomazzo 19, Milano, 20124, ItalyTel +390323933801Email lreale@istud.itFrancesca Simonelli Tel +390817704501Email francesca.simonelli@unicampania.itPurpose: Timely detection and multidisciplinary management of RPE65-related inherited retinal disorders (IRDs) can significantly improve both disease management and patient care. Thus, this Narrative Medicine (NM) project aimed to investigate the evolution of the care pathway and the expectations on genetic counseling and gene therapy by patients, caregivers, and healthcare professionals.Patients and Methods: This project was conducted between July and December 2020, involving five Italian eye clinics specialized in IRDs, targeted pediatric and adult patients, their caregivers, attending retinologists and multidisciplinary healthcare professionals. Narratives and parallel charts, together with a sociodemographic survey, were collected through the project webpage. In-depth interviews were conducted with Patient Association (PA) members and multidisciplinary healthcare professionals. All data were entered into the Nvivo Software for coding and analysis.Results: Three pediatric and five adult patients with early-onset RPE65-related IRDs as well as eight caregivers were enrolled; 11 retinologists globally wrote 27 parallel charts; in-depth interviews were done with five multidisciplinary healthcare professionals and one PA member. Early diagnosis remains challenging, and patients reported to have changed up to 10 healthcare professionals before accessing their specialized center. Despite the oftentimes lack of awareness of patients and caregivers on the purpose of genetic testing, participants generally consider gene therapy as a therapeutic chance and a historic breakthrough for the management of RPE65-related IRDs. Well-organized networks to support the patient’s referral to specialized centers – as well as a proper communication of the clinical and genetic diagnosis and the multidisciplinary approach – emerge as crucial aspects in facilitating an early diagnosis and management and a timely initiation of the rehabilitation pathway.Conclusion: The project investigated the RPE65-related IRDs care pathway while integrating the different perspectives involved through NM. The analysis explored the patient’s pathway in Italy and confirmed the need for a well-organized network and multidisciplinary care while highlighting several preliminary areas of improvement in the management of RPE65-related IRDs.Keywords: IRDs management, multidisciplinary, inherited retinal dystrophies, diagnosis, patient’s pathway
format	article
author	Simonelli F Sodi A Falsini B Bacci G Iarossi G Di Iorio V Giorgio D Placidi G Andrao A Reale L Fiorencis A Aoun M
author_facet	Simonelli F Sodi A Falsini B Bacci G Iarossi G Di Iorio V Giorgio D Placidi G Andrao A Reale L Fiorencis A Aoun M
author_sort	Simonelli F
title	Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
title_short	Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
title_full	Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
title_fullStr	Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
title_full_unstemmed	Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
title_sort	care pathway of rpe65-related inherited retinal disorders from early symptoms to genetic counseling: a multicenter narrative medicine project in italy
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/dfa46366eb0948118b32d36b4d411604
work_keys_str_mv	AT simonellif carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT sodia carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT falsinib carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT baccig carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT iarossig carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT diioriov carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT giorgiod carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT placidig carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT andraoa carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT realel carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT fiorencisa carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly AT aounm carepathwayofrpe65relatedinheritedretinaldisordersfromearlysymptomstogeneticcounselingamulticenternarrativemedicineprojectinitaly
_version_	1718376884751826944
spelling	oai:doaj.org-article:dfa46366eb0948118b32d36b4d4116042021-12-02T19:17:36ZCare Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy1177-5483https://doaj.org/article/dfa46366eb0948118b32d36b4d4116042021-12-01T00:00:00Zhttps://www.dovepress.com/care-pathway-of-rpe65-related-inherited-retinal-disorders-from-early-s-peer-reviewed-fulltext-article-OPTHhttps://doaj.org/toc/1177-5483Francesca Simonelli,1 Andrea Sodi,2 Benedetto Falsini,3,4 Giacomo Bacci,5 Giancarlo Iarossi,6 Valentina Di Iorio,1 Dario Giorgio,2 Giorgio Placidi,3,4 Assia Andrao,7 Luigi Reale,8 Alessandra Fiorencis,8 Manar Aoun9 1Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “L. Vanvitelli”, Naples, Italy; 2Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; 3UOC Oftalmologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; 4Dipartimento Testa-collo e organi di senso, Università Cattolica del Sacro Cuore, Rome, Italy; 5Paediatric Ophthalmology Unit, Children’s Hospital “A. Meyer”, University of Florence, Florence, Italy; 6Ophthalmology Department, Bambino Gesù IRCCS Paediatric Hospital, Rome, Italy; 7Retina Italia Onlus Association, Milan, Italy; 8Healthcare Department, Fondazione ISTUD, Milan, Italy; 9Medical Department, Novartis Farma, Origgio, ItalyCorrespondence: Luigi RealeHealthcare Department, Fondazione ISTUD, via Paolo Lomazzo 19, Milano, 20124, ItalyTel +390323933801Email lreale@istud.itFrancesca Simonelli Tel +390817704501Email francesca.simonelli@unicampania.itPurpose: Timely detection and multidisciplinary management of RPE65-related inherited retinal disorders (IRDs) can significantly improve both disease management and patient care. Thus, this Narrative Medicine (NM) project aimed to investigate the evolution of the care pathway and the expectations on genetic counseling and gene therapy by patients, caregivers, and healthcare professionals.Patients and Methods: This project was conducted between July and December 2020, involving five Italian eye clinics specialized in IRDs, targeted pediatric and adult patients, their caregivers, attending retinologists and multidisciplinary healthcare professionals. Narratives and parallel charts, together with a sociodemographic survey, were collected through the project webpage. In-depth interviews were conducted with Patient Association (PA) members and multidisciplinary healthcare professionals. All data were entered into the Nvivo Software for coding and analysis.Results: Three pediatric and five adult patients with early-onset RPE65-related IRDs as well as eight caregivers were enrolled; 11 retinologists globally wrote 27 parallel charts; in-depth interviews were done with five multidisciplinary healthcare professionals and one PA member. Early diagnosis remains challenging, and patients reported to have changed up to 10 healthcare professionals before accessing their specialized center. Despite the oftentimes lack of awareness of patients and caregivers on the purpose of genetic testing, participants generally consider gene therapy as a therapeutic chance and a historic breakthrough for the management of RPE65-related IRDs. Well-organized networks to support the patient’s referral to specialized centers – as well as a proper communication of the clinical and genetic diagnosis and the multidisciplinary approach – emerge as crucial aspects in facilitating an early diagnosis and management and a timely initiation of the rehabilitation pathway.Conclusion: The project investigated the RPE65-related IRDs care pathway while integrating the different perspectives involved through NM. The analysis explored the patient’s pathway in Italy and confirmed the need for a well-organized network and multidisciplinary care while highlighting several preliminary areas of improvement in the management of RPE65-related IRDs.Keywords: IRDs management, multidisciplinary, inherited retinal dystrophies, diagnosis, patient’s pathwaySimonelli FSodi AFalsini BBacci GIarossi GDi Iorio VGiorgio DPlacidi GAndrao AReale LFiorencis AAoun MDove Medical Pressarticleirds managementmultidisciplinaryinherited retinal dystrophiesdiagnosispatient’s pathwayOphthalmologyRE1-994ENClinical Ophthalmology, Vol Volume 15, Pp 4591-4605 (2021)

Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy

Ejemplares similares