PROPHET Abstracts accepted at the Italian Society of Hygiene annual conference (SItI), 23-26 October 2024, Palermo (Italy)
- Title: Health impact assessment of mandatory DPYD testing before treatment with fluoropyrimidines. Presenter: Francesco di Berardino, UCSC.
The aim of this mapping is to provide a comprehensive overview of ongoing research projects in the field of personalized prevention (PP) funded by the European Commission (EC), highlighting key initiatives and existing support programs. The analysis reveals a diverse range of active projects, with the majority receiving funding from Horizon Europe (57.8%) and Horizon 2020 (35.5%). Approximately 40% of these projects focus on cancer, while 20% address cardiovascular and neurological/psychiatric diseases. The EC has allocated around €160 million to cancer PP projects, which is double the amount designated for cardiovascular and neurological diseases. Most of these projects emphasize primary and secondary prevention, underscoring the EU’s commitment to advancing research in these critical areas. An abstract on this topic was also presented at the European Public Health Conference (EPH).
- Title: Health impact assessment genetic panels for personalization of cancer screening. Presenter Angelica Valz Gris, UCSC.
In 2022, breast and ovarian cancer posed a significant public health challenge in Italy. This study uses a Health Impact Assessment (HIA) to evaluate the impact of a national policy aimed at standardizing genetic screening and personalized prevention interventions for BRCA1/2 mutations. Preliminary results suggest that such a policy could reduce advanced-stage diagnoses, improve equitable access to care, and optimize healthcare resource utilization, while reducing regional disparities and enhancing coordination between diagnostic and therapeutic services.
PROPHET Abstracts accepted at the Italian society for HTA conference (SITHA), 5-7 November 2024, Rome (Italy)
- Title: Mapping and Analysis of Economic Evaluation Gaps in Personalized Prevention. Presenter: Mario Masiello, UCSC.
Over the past decade, the rise of personalized medicine has presented new challenges for Health Technology Assessment (HTA) bodies, which must now incorporate diagnostic components alongside pharmaceutical technologies. Currently, there is a lack of established criteria for evaluating tests in personalized medicine. The literature analysis aims to map the current state and identify barriers to the adoption of personalized preventive approaches within European healthcare systems while exploring economic sustainability. Methodologically, a scoping review was conducted, focusing on economic evaluation frameworks in precision medicine, ultimately highlighting the existence of limited economic evaluations and significant challenges due to data quality and the need for standardized methods in this field.
- Title: Indicators for the evaluation of genetic and genomic testing: a scoping review. Presenter: Angelica Valz Gris, UCSC.
SITHA: The PROPHET project aims to assess personalized prevention strategies, focusing on genetic and genomic tests. A scoping review identified 57 evaluations, mostly from Europe (53%) and North America (47%), using HTA, EGAPP, and ACCE frameworks. From these, 951 specific indicators were extracted and synthesized into 150 general indicators. Key dimensions measured were clinical efficacy (79%), clinical validity (79%), and analytical validity (60%), but equity, acceptability, and legitimacy were considered in less than 15% of cases. An abstract on this topic was also presented at the European Public Health Conference (EPH).
PROPHET Abstracts accepted at the European Public Health Conference (EPH), 12-15 November 2024, Lisbon (Portugal)
- Title: Genetic and other omics-based information application in the most-cited recent clinical trials. Presenter: Luigi Russo, UCSC.
This systematic review aim is to assess the efficacy of disclosing polygenic risk scores (PRS) in inducing behavioral changes. Of 4433 articles screened, 12 RCTs were included. PRS disclosure had minimal health effects, except for partial LDL cholesterol reduction, with no negative psychological outcomes. Limitations include short follow-up periods and varying outcome assessment methods.
- Title: Exploration of research projects on personalised prevention supported by the European Commission. Presenter Alessandra Maio, UCSC. The description is available in this newsletter among the abstracts accepted the Italian Society of Hygiene annual conference.
- Title: Mapping barriers and bottlenecks for personalized preventive approaches in health systems worldwide. Presenter Nicolò Scarsi, UCSC.
This scoping review of reviews aimed to map the barriers hindering the implementation of personalized preventive approaches in health systems worldwide. Our findings indicate that the most frequently reported barriers include a lack of evidence on clinical utility, absence of guidelines, shortage of specialized professionals, low citizen trust, and cultural issues. These factors, in turn, influence country specific policies and the applicability of such innovations across different populations, raising the risk of increased health inequalities and concerns about discrimination. Our study showed that most translational challenges are related to several chronic diseases, with particular concerns for non-European ancestry individuals.
- Title: Health Impact Assessment of Personalized Prevention Programs: three applications on pharmacogenomic testing. Presenter: Angelica Valz Gris, UCSC.
This study applies the Health Impact Assessment (HIA) framework to evaluate a policy requiring DPYD genetic testing before prescribing fluoropyrimidine for colorectal cancer (CRC) patients. Conducted in Italy, Portugal, and Finland, the assessment examines patient outcomes, economic, organizational, and equity impacts. Preliminary findings suggest that the DPYD test reduces adverse events and improves patient quality of life, with regional differences in equity and resource availability shaping its implementation. The HIA highlights the value of considering local contexts in assessing personalized prevention programs.
- Title: Indicators for the evaluation of the clinical utility of genetic or genomic testing: a scoping review. Presenter: Angelica Valz Gris, UCSC. The description is available in this newsletter among the abstracts accepted the Italian society for HTA conference.
PROPHET manuscripts published
- Amicia Phillips, Danya F. Vears, Ine Van Hoyweghen, Pascal Borry. Clinician perspectives on policy approaches to genetic risk disclosure in families. Fam Cancer. 2024 Jun;23(2):177-186
- Roberta Pastorino, Angelo Maria Pezzullo, Tommaso Osti, Roza Adany, Pascal Borry, Floris Barnhoorn, Eva Fadil, Mark Kroese, Andres Metspalu, Beatriz Perez-Gomez, Markus Perola, Daniela Quaggia, Serena Scollen, Mahsa Shabani, Stefan Swartling Peterson, Carla van El, Astrid Vicente and Stefania Boccia. The PROPHET project paves the way for personalized prevention in the future healthcare. Eur J Cancer Prev 2024 Sep 1;33(5):387-389.
- Shabani, M., & Yilmaz, S. . (2022). Lawfulness in secondary use of health data: Interplay between three regulatory frameworks of GDPR, DGA & EHDS. Technology and Regulation, 2022, 128-134.
- Siermann, M., Valcke, O., Vermeesch, J. R., Raivio, T., Tsuiko, O., & Borry, P. (2023). Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores. In European Journal of Human Genetics (Vol. 31, Number 10, pp. 1133–1138). Springer Nature [academic journals on nature.com]. https://doi.org/10.1038/s41431-023-01333-9
- Plans-Beriso, E., Babb-de-Villiers, C., Petrova, D., Barahona-López, C., Diez-Echave, P., Hernández, O. R., Fernández-Martínez, N. F., Turner, H., García-Ovejero, E., Craciun, O., Fernández-Navarro, P., Fernández-Larrea, N., García-Esquinas, E., Kuhn, I., Jiménez-Planet, V., Moreno, V., Rodríguez-Artalejo, F., Sánchez, M. J., Pollan-Santamaria, M., et al. (2024). Biomarkers for personalised prevention of chronic diseases: a common protocol for three rapid scoping reviews. Systematic Reviews, 13, Article 1.