Godino Lea, Ambrosini Enrico, Barili Valeria, Graziano Claudio, Garavelli Livia, Calabrese Olga, Neri Marcella, Sangiorgi Luca, Bertonazzi Benedetta, Innella Giovanni, Turchetti Daniela, Percesepe Antonio
Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
J Community Genet. 2025 Apr;16(2):139-150. doi: 10.1007/s12687-024-00750-7. Epub 2025 Jan 11.
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166 h of patient care per year. The clinical geneticists/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients' access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.
2002年，意大利艾米利亚-罗马涅大区制定了一项全面的战略计划，旨在提高基因服务的整合度和效率。二十年后，本报告旨在探讨该区域网络的当前运作情况，特别关注不断变化的场景中的临床遗传学。为此，我们分析了该地区医学遗传学服务的活动数据，以识别并可能改善当前存在的问题。这是一项混合方法研究，对艾米利亚-罗马涅大区七个医学遗传学服务的活动进行了定量和定性分析。定量分析考虑了2021年的咨询次数和工作人员构成。定性分析通过反思性主题分析对服务主任焦点小组进行了研究。医学遗传学服务共提供了14925次咨询服务，配备了22.4名全职等效临床遗传学家。一名医生平均每周进行14.5次咨询，每年提供约1166小时的患者护理。临床遗传学家与居民的比例为每10万居民0.54人，据估计，2021年平均每278名居民中就有一人接受了遗传咨询服务。定性分析突出了患者获得服务、总体组织和人员构成方面的问题。为了满足对遗传咨询服务不断增长的需求，需要扩大劳动力队伍并调整当前的实践模式，以增加获得基因服务的机会以及将检测结果应用于临床管理。
