Giardino Daniela, Mingarelli Rita, Lauretti Tiziana, Amoroso Antonio, Larizza Lidia, Dallapiccola Bruno
Laboratorio di Citogenetica, IRCCS Istituto Auxologico Italiano, Milano, Italy.
IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy.
BMC Health Serv Res. 2016 Mar 17;16:96. doi: 10.1186/s12913-016-1340-7.
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.
A web-based survey was carried out to achieve the information.
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.
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.
本研究旨在收集2011年意大利的基因检测活动信息，以便为国家卫生系统提供指导，改善基因检测服务。
通过网络调查获取相关信息。
数据来自268个大型机构，这些机构提供517项服务，雇佣3246人。记录了约29.5万次细胞遗传学分析、3.5万次免疫遗传学分析以及对902个基因进行的26.3万次分子遗传学分析。74%的服务机构获得了机构认证，57%的机构还通过了ISO 9001标准认证。20%的细胞遗传学实验室参与了欧洲外部质量评估（EQA），44%参与了国家EQA。只有28%的分子遗传学实验室参与了国家囊性纤维化EQA。基因检测确诊疾病的比例因疾病而异，从乳糜泻的52%到脆性X综合征的4%不等。
本研究强调了重组意大利基因检测服务网络、提高EQA参与度以及制定实施下一代技术国家计划的必要性。必须共同努力，对开具检测项目的专业人员进行培训，以提高检测的合理性，并告知患者，目前他们接触到的直接面向消费者的多因素基因检测，其临床效用尚未得到证实。
