Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study

Journal of Community Genetics https://doi.org/10.1007/s12687-024-00750-7 RESEARCH Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study Lea Godino1 · Enrico Ambrosini2 · Valeria Barili3 · Claudio Graziano4 · Livia Garavelli5 · Olga Calabrese6 Marcella Neri7 · Luca Sangiorgi8 · Benedetta Bertonazzi9 · Giovanni Innella1,10 · Daniela Turchetti1,10 · Antonio Percesepe2,3 · Received: 24 July 2024 / Accepted: 4 November 2024 © The Author(s) 2024 Abstract 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. Keywords Genetic counselling · Workforce · Staffing · Mixed-method design Lea Godino, Enrico Ambrosini and Valeria Barili contributed equally as first co-authors. Daniela Turchetti 1 Medical Genetics Unit, IRCCS Azienda OspedalieroUniversitaria di Bologna, Bologna, Italy 2 Medical Genetics Unit, University Hospital of Parma, Parma, Italy 3 Medical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy 4 Medical Genetics Unit, AUSL Romagna, Cesena, Italy 5 Medical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, Italy 6 Medical Genetic Unit, University Hospital of Modena, Modena, Italy 7 Medical Genetics Unit, Department of Mother and Child, Sant’Anna University Hospital of Ferrara, Ferrara, Italy 8 Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy 9 IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy 10 Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy 13 Journal of Community Genetics Introduction The last decades have witnessed a widespread diffusion of genetic testing, with an estimated annual increase of referrals to the clinical genetic services between 23% and 25% (Blout Zawatsky et al. 2022; Dragojlovic et al. 2020). The same growth rate is not reflected in an equivalent increase in the number of professionals in charge of providing those genetic counseling sessions. Several authors have pointed out the overwhelming workload and the scarcity of health workers with the specific background (Blout Zawatsky et al. 2022; Maiese et al. 2019). A recent scoping review has described the composition of the clinical genetics’ workforce in high-income countries and has highlighted the requirements for delivering a comprehensive patient care in Clinical Genetics, identifying three primary professions as fundamental components of the multi-professional team: clinical geneticists (specialized physicians), clinical scientists (laboratory biologists or biotechnologists), and Genetic Counselors or Genetic Nurses (Dragojlovic et al. 2020). In 2002, a comprehensive strategic plan was developed in the Emilia-Romagna Region, a highly industrialized, highincome, densely inhabited area of Northern Italy (Delibera della Giunta della Regione Emilia-Romagna No. 1267, 22.7.2002. http://www390.regione.emilia-romagna.it/webat tn/aw01w51s.). Before that, a formal organization of genetic services was lacking in Emilia-Romagna and in many other regions of Italy. The aim was to improve the integration and efficiency of genetic services, including clinical genetics and laboratories, allocating specific tests to single molecular laboratories in order to promote mutual relationships and enable their diversification and specialization. A hub and spoke model was adopted, considering four molecular laboratories affiliated with medical faculties as the hub for molecular genetic activities and two main laboratories serving the northern and southern part of the Region, respectively, as the hub for cytogenetic activity, whilst a single center constitutes the hub of clinical genetics. One of the issues raised at that time was the lack of genetic counselors in the genetic teams, reflecting their absence in the Italian health care system (Calzolari et al. 2005). In the subsequent years, some national surveys of medical genetics services have been undertaken by other groups, sponsored by the Italian Society of Human Genetics (SIGU), the last one of which refers to the year 2011 (Giardino et al. 2016). This survey included also private facilities and showed that total medical genetics services were actually abundant, disproportionate to the population and not equally distributed across the country, with a decreasing gradient towards the south. The Emilia-Romagna Region, located in northern Italy, is one of the largest regions in the country, with 4.460.030 13 inhabitants, of which a significant percentage (12.8%) are non-Italian native (Regione Emilia-Romagna 2023). From the genetic point of view, there are founder effects described in literature (Zuntini et al. 2017) and specific areas with a high prevalence of beta thalassemia carriers, which translates in public health measures (Gallerani et al. 1990). Two decades after the regional plan was undertaken, there is still need to understand the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed staffing and activity data of the clinical genetics services in our Region, to identify critical issues and to propose possible improvements. Methods Study design This study employed an exploratory mixed-method approach, incorporating both quantitative an (...truncated)