title: Survey of medical genetic services in Italy: year 2011.
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.
authors.affiliation: Laboratorio di Citogenetica, IRCCS Istituto Auxologico Italiano, Milano, Italy. giardino@auxologico.it.
authors.forename: Daniela
authors.initials: D
authors.lastname: Giardino
authors.affiliation: IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Mingarelli
authors.affiliation: IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Lauretti
authors.affiliation: Dipartimento di Scienze Mediche, Azienda Ospedaliera Città della Salute e della Scienza, Università di Torino, Torino, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Amoroso
authors.affiliation: Laboratorio di Citogenetica, IRCCS Istituto Auxologico Italiano, Milano, Italy.|Genetica Medica, Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milano, Italy.
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
authors.affiliation: IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D002568:Certification; D005260:Female; D005820:Genetic Testing / Q000145:classification / Q000706:statistics & numerical data; D006268:Health Facilities; D006801:Humans; D007558:Italy; D007753:Laboratories; D008297:Male; D011785:Quality Assurance, Health Care; D011795:Surveys and Questionnaires