Polygenic Risk Scores and Digital Health Technologies in Cardiovascular Prevention: Evidence on Efficacy and Sustainability from the Italian National Health System
1
Department of Medicine and Surgery, University of Perugia, Perugia, Italy
2
Graduate School of Health Economics and Management (ALTEMS), Università Cattolica del Sacro Cuore, Rome, Italy
3
Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy
4
Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
5
Department of Cardiovascular Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
6
Department of Cardiovascular and Pulmonary Sciences, Università Cattolica del Sacro Cuore, Rome, Rome, Italy
7
Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone", Palermo, Italy
8
Dipartimento PROMISE, Università degli Studi di Palermo, Palermo, Italy
9
Azienda Ospedaliero Universitaria Policlinico "G. Rodolico-San Marco", Catania, Italy
10
Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia", University of Catania, Catania, Italy
Popul. Med. 2026;8(Supplement Supplement 1):
ABSTRACT
INTRODUCTION:
Cardiovascular diseases (CVDs) are a leading cause of morbidity and mortality, requiring effective, and sustainable preventive strategies. Polygenic risk scores (PRS) and digital health technologies (DHTs) may improve risk stratification and people engagement, but evidence for adoption in health systems is limited. INNOPREV (Italian Ministry of Health, PNRR-MAD-2022-12375795) evaluated the efficacy, cost-effectiveness and implementation feasibility of PRS and DHTs for primary CVD prevention in Italy.
METHODS:
A multicentre randomized controlled trial was performed to compare usual care, PRS, DHT, and PRS+DHT in adults aged 40–69 years with high cardiovascular risk (SCORE2 2.5–10%) in three Italian centres. SCORE2 trajectories informed a 10-year decision-tree cost-utility model (societal perspective) using national costs and utilities; deterministic and probabilistic sensitivity analyses assessed uncertainty. To address implementation feasibility contextual factors were explored through two scoping reviews and a Delphi panel; CVD risk perception, technology acceptance, and PRS-related knowledge were assessed through a questionnaire to trial participants.
RESULTS:
A total of 1019 participants were enrolled. At 6 and 12 months, no significant benefit in SCORE2 was observed in any of the intervention arms. Therefore, all strategies were dominated, generating higher costs (€3100–3500 per patient) and less quality adjusted life years than standard care. The results of the scoping review combined with the Delphi panel highlighted regulatory, economic, infrastructural and cybersecurity barriers for DHTs, and limited genomic literacy and trust barriers for PRS. Questionnaires showed a low perceived CVD risk, but good motivation towards prevention with positive acceptance of DHTs, and socioeconomic gradients in PRS literacy.
CONCLUSIONS:
The preliminary results of the project indicate that PRS and DHTs did not improve cardiovascular risk trajectories nor demonstrate cost-effectiveness compared with standard care. Despite favourable attitudes towards prevention and DHTs, equity-relevant literacy gaps and implementation barriers suggest that further research are needed before sustainable, large-scale adoption.
Cardiovascular diseases (CVDs) are a leading cause of morbidity and mortality, requiring effective, and sustainable preventive strategies. Polygenic risk scores (PRS) and digital health technologies (DHTs) may improve risk stratification and people engagement, but evidence for adoption in health systems is limited. INNOPREV (Italian Ministry of Health, PNRR-MAD-2022-12375795) evaluated the efficacy, cost-effectiveness and implementation feasibility of PRS and DHTs for primary CVD prevention in Italy.
METHODS:
A multicentre randomized controlled trial was performed to compare usual care, PRS, DHT, and PRS+DHT in adults aged 40–69 years with high cardiovascular risk (SCORE2 2.5–10%) in three Italian centres. SCORE2 trajectories informed a 10-year decision-tree cost-utility model (societal perspective) using national costs and utilities; deterministic and probabilistic sensitivity analyses assessed uncertainty. To address implementation feasibility contextual factors were explored through two scoping reviews and a Delphi panel; CVD risk perception, technology acceptance, and PRS-related knowledge were assessed through a questionnaire to trial participants.
RESULTS:
A total of 1019 participants were enrolled. At 6 and 12 months, no significant benefit in SCORE2 was observed in any of the intervention arms. Therefore, all strategies were dominated, generating higher costs (€3100–3500 per patient) and less quality adjusted life years than standard care. The results of the scoping review combined with the Delphi panel highlighted regulatory, economic, infrastructural and cybersecurity barriers for DHTs, and limited genomic literacy and trust barriers for PRS. Questionnaires showed a low perceived CVD risk, but good motivation towards prevention with positive acceptance of DHTs, and socioeconomic gradients in PRS literacy.
CONCLUSIONS:
The preliminary results of the project indicate that PRS and DHTs did not improve cardiovascular risk trajectories nor demonstrate cost-effectiveness compared with standard care. Despite favourable attitudes towards prevention and DHTs, equity-relevant literacy gaps and implementation barriers suggest that further research are needed before sustainable, large-scale adoption.
| eISSN: | 2654-1459 |
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