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Survey of medical genetic services in Italy: year 2011

BACKGROUND: The aim of this study was to collect information about 2011 genetic activities in Italy, with the purpose of providing guidance to the national health systems in order to improve genetic services. METHODS: A web-based survey was carried out to achieve the information. RESULTS: Data were...

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Autores principales: Giardino, Daniela, Mingarelli, Rita, Lauretti, Tiziana, Amoroso, Antonio, Larizza, Lidia, Dallapiccola, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797350/
https://www.ncbi.nlm.nih.gov/pubmed/26988239
http://dx.doi.org/10.1186/s12913-016-1340-7
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author Giardino, Daniela
Mingarelli, Rita
Lauretti, Tiziana
Amoroso, Antonio
Larizza, Lidia
Dallapiccola, Bruno
author_facet Giardino, Daniela
Mingarelli, Rita
Lauretti, Tiziana
Amoroso, Antonio
Larizza, Lidia
Dallapiccola, Bruno
author_sort Giardino, Daniela
collection PubMed
description BACKGROUND: The aim of this study was to collect information about 2011 genetic activities in Italy, with the purpose of providing guidance to the national health systems in order to improve genetic services. METHODS: A web-based survey was carried out to achieve the information. RESULTS: Data were collected from 268 macrostructures hosting 517 services and employing 3246 persons. About 295,000 cytogenetic, 35,000 immunogenetic and 263,000 molecular genetic analyses of 902 genes were recorded. Seventy-four percent of the services were accredited with institutional bodies and 57 % were also certified according to ISO 9001 standard. Twenty percent of cytogenetic laboratories had participated in an European External Quality Assessment (EQA) while 44 % participated in a national EQA. Only 28 % of the molecular laboratories had participated in a national Cystic Fibrosis EQA. The percentage of diagnoses confirmed by genetic tests varied among disorders, ranging from 52 % for coeliac disease to 4 % for fragile X syndrome. CONCLUSIONS: This study highlights the need for reorganizing the Italian genetic services network, improving EQA participation and developing national plans for implementing next generation technologies. Concerted effort has to be addressed in the education of the professionals prescribing tests to improve appropriateness and to inform patients, who now have exposure to direct-to-consumer multifactorial genetic testing where clinical utility is unproven.
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spelling pubmed-47973502016-03-19 Survey of medical genetic services in Italy: year 2011 Giardino, Daniela Mingarelli, Rita Lauretti, Tiziana Amoroso, Antonio Larizza, Lidia Dallapiccola, Bruno BMC Health Serv Res Research Article BACKGROUND: The aim of this study was to collect information about 2011 genetic activities in Italy, with the purpose of providing guidance to the national health systems in order to improve genetic services. METHODS: A web-based survey was carried out to achieve the information. RESULTS: Data were collected from 268 macrostructures hosting 517 services and employing 3246 persons. About 295,000 cytogenetic, 35,000 immunogenetic and 263,000 molecular genetic analyses of 902 genes were recorded. Seventy-four percent of the services were accredited with institutional bodies and 57 % were also certified according to ISO 9001 standard. Twenty percent of cytogenetic laboratories had participated in an European External Quality Assessment (EQA) while 44 % participated in a national EQA. Only 28 % of the molecular laboratories had participated in a national Cystic Fibrosis EQA. The percentage of diagnoses confirmed by genetic tests varied among disorders, ranging from 52 % for coeliac disease to 4 % for fragile X syndrome. CONCLUSIONS: This study highlights the need for reorganizing the Italian genetic services network, improving EQA participation and developing national plans for implementing next generation technologies. Concerted effort has to be addressed in the education of the professionals prescribing tests to improve appropriateness and to inform patients, who now have exposure to direct-to-consumer multifactorial genetic testing where clinical utility is unproven. BioMed Central 2016-03-17 /pmc/articles/PMC4797350/ /pubmed/26988239 http://dx.doi.org/10.1186/s12913-016-1340-7 Text en © Giardino et al. 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Giardino, Daniela
Mingarelli, Rita
Lauretti, Tiziana
Amoroso, Antonio
Larizza, Lidia
Dallapiccola, Bruno
Survey of medical genetic services in Italy: year 2011
title Survey of medical genetic services in Italy: year 2011
title_full Survey of medical genetic services in Italy: year 2011
title_fullStr Survey of medical genetic services in Italy: year 2011
title_full_unstemmed Survey of medical genetic services in Italy: year 2011
title_short Survey of medical genetic services in Italy: year 2011
title_sort survey of medical genetic services in italy: year 2011
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797350/
https://www.ncbi.nlm.nih.gov/pubmed/26988239
http://dx.doi.org/10.1186/s12913-016-1340-7
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