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Background: Several personalized medicine initiatives have been launched worldwide since the completion of the human genome sequence in 2003, enhancing the provision of genetic testing. The aim of the study is to identify existing genetic service delivery models in Europe. Methods: Two approaches were used: i) a systematic review on records published 2000-2015, in English or Italian, and from EU countries; ii) an online survey on BRCA1/2, Lynch syndrome, familial hypercholesterolemia (FH), and inherited thrombophilia (IT) genetic testing. A descriptive analysis of the results was performed. Results: Totally, 58 experts from 12 EU countries (Czech Republic, Estonia, France, Hungary, Ireland, Italy, the Netherlands, Poland, Portugal, Spain, Sweden, the UK) were enrolled. Genetic services are accessed mainly through geneticists (BRCA1/2, Lynch), other medical specialists or screening programmes (FH, IT). Genetic counseling and referrals to testing are mostly performed by geneticists, oncologists (BRCA1/2, Lynch), other medical specialists or trained professionals (FH, IT), namely genetic counselors and nurses. However, geneticists and other medical specialists have the most prominent role in patient management. Except for IT, cascade testing is provided for family members of index cases in all countries. Genetic laboratories are mostly in the academic or private sector. The identified genetic programmes can be classified into five delivery models based on the prominent role of health professionals in patient pathways: i) the geneticists model; ii) the primary care model; iii) the medical specialists model; iv) the population screening programmes model; v) the direct-to-consumer model. Conclusions: The main delivery models for the four tests are the geneticists model and the medical specialists model. Current delivery models require the integration of genetics in all medical specialties, collaboration among different health professionals and redistribution of professional roles.

Current genetic service delivery models in Europe. Interim results of a cross-sectional study / Unim, B; Lagerberg, T; Pitini, E; Adamo, G; De Vito, C; Vacchio, Mr; Marzuillo, C; Villari, P. - In: EUROPEAN JOURNAL OF PUBLIC HEALTH. - ISSN 1101-1262. - 28:suppl. 4(2018), pp. 350-350. ((Intervento presentato al convegno 11th European Public Health Conference. Winds of change: towards new ways of improving public health in Europe tenutosi a Ljubljana, Slovenia [10.1093/eurpub/cky214.119].

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