Multidisciplinary evaluation of Polygenic Risk Score and Digital Health in Cardiovascular Prevention
Abstract
Background: Cardiovascular diseases (CVDs) are a leading cause of morbidity and mortality, requiring continuing efforts in prevention. Polygenic risk scores (PRS) and digital health technologies (DHTs) may improve risk stratification and patient engagement, but evidence supporting their adoption in health systems remains limited. The project INNOPREV (PNRR-MAD-2022-12375795), funded by the Italian Ministry of Health, evaluated the efficacy, cost-effectiveness, and implementation feasibility of PRS and DHTs for primary CVD prevention in the Italian NHS.
Methods: A multicentre randomised controlled trial compared standard of care, PRS, DHT, and PRS+DHT in adults aged 40–69 years with medium-high cardiovascular risk (SCORE2 2.5–10%) in three Italian centres. SCORE2 trajectories informed a 10-year decision-tree cost-utility model relied on national costs and utilities. Implementation feasibility was explored through two scoping reviews and a Delphi panel for identifying barriers and facilitators and by administering questionnaire to trial participants for evaluating risk perception, technology acceptance, and PRS knowledge.
Results: 1,019 participants were enrolled. No improvement in SCORE2 was observed in any intervention arm. From the economic viewpoints, all strategies were dominated by the standard of care. Scoping reviews and the Delphi panel identified regulatory, economic, infrastructural, and cybersecurity barriers for DHTs, alongside limited genomic literacy and trust barriers for PRS. Questionnaires revealed low perceived CVD risk, positive attitudes towards prevention and DHTs, and low PRS literacy with socioeconomic gradients.
Conclusions: PRS and DHTs did not improve cardiovascular risk trajectories nor demonstrate cost-effectiveness compared with standard of care. New evidence needs to be generated to better disentangle their potential role in CVD prevention also in consideration of equity-relevant literacy gaps and implementation barriers.
Key messages: • In a multicentre RCT, neither PRS nor DHTs improved cardiovascular risk trajectories or demonstrated cost-effectiveness versus standard care in high-risk Italian adults aged 40–69.
• Implementation barriers and equity-relevant literacy gaps in PRS and DHTs suggest further research is needed before large-scale adoption within the Italian NHS and similar health systems.
Related
- Polygenic Risk Scores and Digital Devices for Primary Cardiovascular Prevention: INNOPREV Trial
- Reply to Crespo, J.; Iruzubieta, P. Comment on "Orozco-Beltrán et al. Evaluation, Management and Therapeutic Approach of Cardiovascular-Kidney-Metabolic Syndrome: A Multidisciplinary Delphi Expert Consensus. J. Clin. Med. 2025, 14, 8930".
- 2026 AHA/ACC/ADA/ASN Guideline for the Prevention, Detection, Evaluation, and Management of Cardiovascular-Kidney-Metabolic Syndrome
- Utility of a coronary artery disease polygenic risk score in a low-risk primary prevention cohort
- Coronary artery disease polygenic risk score and recurrent cardiovascular events after coronary artery revascularization: A UK Biobank analysis
BibTeX
@article{waure2026multidisciplinary,
title = {{Multidisciplinary evaluation of Polygenic Risk Score and Digital Health in Cardiovascular Prevention}},
author = {C De Waure and I Valentini and N Scarsi and L Russo and R Pastorino and G Liuzzo and W Mazzucco and A Agodi and S Boccia},
journal = {The European Journal of Public Health},
year = {2026},
month = oct,
doi = {10.1093/eurpub/ckag169.266},
url = {https://doi.org/10.1093/eurpub/ckag169.266},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Multidisciplinary evaluation of Polygenic Risk Score and Digital Health in Cardiovascular Prevention
AU - C De Waure
AU - I Valentini
AU - N Scarsi
AU - L Russo
AU - R Pastorino
AU - G Liuzzo
AU - W Mazzucco
AU - A Agodi
AU - S Boccia
PY - 2026
DA - 2026/10/01
JO - The European Journal of Public Health
DO - 10.1093/eurpub/ckag169.266
UR - https://doi.org/10.1093/eurpub/ckag169.266
AB - Background: Cardiovascular diseases (CVDs) are a leading cause of morbidity and mortality, requiring continuing efforts in prevention. Polygenic risk scores (PRS) and digital health technologies (DHTs) may improve risk stratification and patient engagement, but evidence supporting their adoption in health systems remains limited. The project INNOPREV (PNRR-MAD-2022-12375795), funded by the Italian Ministry of Health, evaluated the efficacy, cost-effectiveness, and implementation feasibility of PRS and DHTs for primary CVD prevention in the Italian NHS. Methods: A multicentre randomised controlled trial compared standard of care, PRS, DHT, and PRS+DHT in adults aged 40–69 years with medium-high cardiovascular risk (SCORE2 2.5–10%) in three Italian centres. SCORE2 trajectories informed a 10-year decision-tree cost-utility model relied on national costs and utilities. Implementation feasibility was explored through two scoping reviews and a Delphi panel for identifying barriers and facilitators and by administering questionnaire to trial participants for evaluating risk perception, technology acceptance, and PRS knowledge. Results: 1,019 participants were enrolled. No improvement in SCORE2 was observed in any intervention arm. From the economic viewpoints, all strategies were dominated by the standard of care. Scoping reviews and the Delphi panel identified regulatory, economic, infrastructural, and cybersecurity barriers for DHTs, alongside limited genomic literacy and trust barriers for PRS. Questionnaires revealed low perceived CVD risk, positive attitudes towards prevention and DHTs, and low PRS literacy with socioeconomic gradients. Conclusions: PRS and DHTs did not improve cardiovascular risk trajectories nor demonstrate cost-effectiveness compared with standard of care. New evidence needs to be generated to better disentangle their potential role in CVD prevention also in consideration of equity-relevant literacy gaps and implementation barriers. Key messages: • In a multicentre RCT, neither PRS nor DHTs improved cardiovascular risk trajectories or demonstrated cost-effectiveness versus standard care in high-risk Italian adults aged 40–69. • Implementation barriers and equity-relevant literacy gaps in PRS and DHTs suggest further research is needed before large-scale adoption within the Italian NHS and similar health systems.
SN - 1101-1262
SN - 1464-360X
ER -