Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study
Lea Godino1, Enrico Ambrosini2, Valeria Barili3
1Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Journal of Community Genetics
|January 11, 2025
Summary
Genetic services in Emilia-Romagna, Italy, provided 14,925 counseling sessions in 2021. Analysis revealed challenges in patient access and staffing, necessitating workforce expansion and practice model adjustments for improved genetic healthcare.
Area of Science:
- Medical Genetics
- Health Services Research
- Public Health Policy
Background:
- A strategic plan in 2002 aimed to enhance genetic services in Emilia-Romagna, Italy.
- This study evaluates the network's functioning two decades later, focusing on clinical genetics.
- Evolving healthcare landscapes necessitate continuous assessment of genetic service delivery.
Purpose of the Study:
- To assess the current operational status of the Emilia-Romagna regional genetic services network.
- To identify challenges and areas for improvement in clinical genetics service delivery.
- To provide data-driven recommendations for optimizing genetic services.
Main Methods:
- Mixed-methods study combining quantitative and qualitative analyses of seven medical genetics services.
- Quantitative analysis: consultation numbers and staff composition in 2021.
- Qualitative analysis: focus group with service directors using reflexive thematic analysis.
Main Results:
- 14,925 genetic counseling sessions were conducted in 2021 by 22.4 full-time equivalent clinical geneticists.
- The ratio of clinical geneticists to inhabitants was 0.54 per 100,000.
- Qualitative findings indicated issues with patient access, service organization, and staff composition.
Conclusions:
- Current workforce and practice models are insufficient to meet the rising demand for genetic counseling.
- Expansion of the clinical genetics workforce is crucial.
- Adjustments in practice models are needed to improve access and clinical application of genetic test results.
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