Abstract
BackgroundThe 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.MethodsA web-based survey was carried out to achieve the information.ResultsData 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.ConclusionsThis 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.
Highlights
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
Genetic Centers Overall, 268 genetic centers, hosting 517 genetic services were surveyed (Table 1). 25 % of these services were located in public hospitals, 21 % in university hospitals, 21 % in IRCCS, 16 % in private centers, 9 % in Aziende Sanitarie Locali (ASLs), 5 % in universities, and 4 % in a different institution (Fig. 1)
By comparing the number of the 2011 censused structures with the previous two surveys, an increase of clinical genetic services appeared evident with a slight decrease in the cytogenetic and molecular genetic laboratories (Fig. 2)
Summary
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. The Italian Society of Human Genetics (SIGU) launched in 2012 a survey designed to scrutinize the 2011 activities of the Italian Medical Genetic Services, to compare the results with previous data collections, and to update the national scenario. SIGU had previously carried out six surveys to gather information on cytogenetic and molecular testing and clinical genetics activities, with the aim of providing guidance to the national and regional health systems to improve the organization of genetic services [1, 2].
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