Browsing by Author "Boccia, Stefania"
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- The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level modelPublication . Baccolini, Valentina; Pitini, Erica; Galeone, Daniela; Marzuillo, Carolina; Cicchetti, Americo; Arca, Marcello; Vicente, Astrid M.; Boccia, Stefania; Villari, PaoloIntroduction: Genomics holds significant promise for prevention and clinical care yet integrating it into the national healthcare system (NHS) requires considerable system-wide changes. This study assessed the current stage of Italy in the use of genomics, to map critical areas for improvement and contribute to a strategic plan. Methods: A total of 18 experts rated individually the level of maturity of the Italian NHS on a scale from 1 (lowest) to 5 (highest) using the B1MG Maturity Level Model tool. This instrument is an European matrix of 49 indicators grouped into eight domains: governance, economic aspects, ethics and legislation, public awareness, workforce skills, clinical organization, clinical guidelines, and data infrastructure. Consensus procedures were performed within each domain to finally agree on one maturity level per indicator. Results: Despite a few national initiatives, Italy shows a local level of implementation in most indicators. Genomic medicine is considered a priority, but still lacks an updated strategy and investment plans. A higher maturity is reached for ethical and legal aspects, but there is a strong need to invest in workforce training, citizen engagement and literacy, and large-scale adoption of tools and novel technologies. Infrastructures and guidelines to improve data storage, management, analysis, interpretation, and sharing are not yet widespread available. Discussion: Italy is at the beginning of its journey towards a sustainable implementation of genomics. An updated national strategy with coordinated actions and investment plans is needed to make progress in key areas, including personnel education, public engagement, technical infrastructure, and clinical organization.
- Implementation of genetic tests for disease prevention: challenges in evidence synthesis across clinical utility domainsPublication . Gris, Angelica Valz; Vicente, Astrid M.; Boccia, StefaniaExcerpt: Robust evidence supports the critical role of genetic risk in shaping the frequency of a broad range of diseases, underscoring its significance as a determinant of health outcomes [1]. Accordingly, genetic and genomic tests hold significant potential for disease prevention by stratifying populations based on individual genetic profiles and guiding targeted interventions. However, despite the enthusiasm surrounding these technologies, their integration into preventive healthcare faces significant hurdles, primarily due to the insufficient evidence supporting their clinical utility [2]. Clinical utility, though not universally defined, generally refers to the test’s usefulness to provide actionable information that improves health outcomes. (...)
- A scoping review of the assessment reports of genetic or genomic tests reveals inconsistent consideration of key dimensions of clinical utilityPublication . Pezzullo, Angelo Maria; Gris, Angelica Valz; Scarsi, Nicolò; Tona, Diego Maria; Porcelli, Martina; Di Pumpo, Matteo; Piko, Peter; Adany, Roza; Kannan, Pragathy; Perola, Markus; Cardoso, Maria Luis; Costa, Alexandra; Vicente, Astrid M.; Reigo, Anu; Vaht, Mariliis; Metspalu, Andres; Kroese, Mark; Pastorino, Roberta; Boccia, StefaniaObjectives: Genetic and genomic tests are the cornerstone of personalized preventive approaches. Inconsistency in evaluating their clinical utility is often cited as a reason for their limited implementation in clinical practice. Previous reviews have primarily focused on theoretical frameworks used for clinical utility evaluations of genetic tests, rather than actual assessments and examined dimensions, rather than specific indicators within these dimensions. We aimed to review the dimensions and the specific indicators measured in published assessment reports of genetic or genomic tests. Study design and setting: We conducted a scoping review of assessment reports of genetic and genomic tests used for prevention, searching through PubMed, Web of Science, Scopus, the websites of 20 different organizations, Google, and Google Scholar. From the included assessments, we extracted the reported indicators of clinical utility, compiling a list of disease-specific indicators that detailed their numerator, denominator, and calculation methods. We analyzed the extracted indicators by stratifying them according to ten comprehensive dimensions of clinical utility, the assessment framework used, and the type of indicator (categorized as quantitative, qualitative, reference, or no evidence reported). From these indicators, we then distilled a list of general indicators. Results: We reviewed 3054 unique references and 12,000 results from gray literature searches, ultimately selecting 57 assessment reports. The reference frameworks used were health technology assessment (HTA) (42%), Evaluation of Genomic Applications in Practice and Prevention (EGAPP) (25%), ACCE (21%), and others (12%). We identified 951 disease-specific indicators. The dimensions most frequently evaluated (ie, had at least one indicator) were analytic validity (60%), clinical validity (79%), clinical efficacy (79%), and economic impact (58%). Only 12 assessments compared health outcomes between tested and untested groups, and fewer than 15% of the assessments addressed equity, acceptability, legitimacy, and personal value. Conclusion: Our study illustrates that, although dimensions such as equity and acceptability, are significantly emphasized in traditional evaluation frameworks, these are often not considered in the assessments. Additionally, our study has underscored a significant dearth of reported primary evidence concerning the clinical efficacy of these tests.
- The PROPHET project paves the way for personalized prevention in the future healthcarePublication . Pastorino, Roberta; Pezzullo, Angelo Maria; Osti, Tommaso; Adany, Roza; Borry, Pascal; Barnhoorn, Floris; Fadil, Eva; Kroese, Mark; Metspalu, Andres; Perez-Gomez, Beatriz; Perola, Markus; Quaggia, Daniela; Scollen, Serena; Shabani, Mahsa; Swartling Peterson, Stefan; van El, Carla; Vicente, Astrid; Boccia, StefaniaNo abstract available