Survey of medical genetic services in Italy

Research output: Contribution to journalArticle

Abstract

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.
Original languageEnglish
Pages (from-to)96
Number of pages1
JournalBMC Health Services Research
Volume16
DOIs
Publication statusPublished - Mar 17 2016

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Genetic Services
Medical Genetics
Cytogenetics
Italy
Fragile X Syndrome
Immunogenetics
Professional Education
Genetic Testing
Celiac Disease
Cystic Fibrosis
Molecular Biology
Technology
Health
Genes
Surveys and Questionnaires

Keywords

  • Certification
  • Female
  • Genetic Testing
  • Health Facilities
  • Humans
  • Italy
  • Laboratories
  • Male
  • Quality Assurance, Health Care
  • Surveys and Questionnaires
  • Journal Article

Cite this

Survey of medical genetic services in Italy. / Giardino, Daniela; Mingarelli, Rita; Lauretti, Tiziana; Amoroso, Antonio; Larizza, Lidia; Dallapiccola, Bruno.

In: BMC Health Services Research, Vol. 16, 17.03.2016, p. 96.

Research output: Contribution to journalArticle

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abstract = "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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AU - Dallapiccola, Bruno

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