Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention

NCT ID: NCT06888466

Last Updated: 2025-09-22

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 650 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-06-01
• Study Completion Date: 2026-12-31

Brief Summary

The goal of this clinical trial is to evaluate whether the disclosure of Polygenic Risk Scores (PRS) combined with personalized coaching on risk factors can lead to significant improvements in lifestyle behaviors among staff members at Fondazione Policlinico Universitario Agostino Gemelli IRCCS. The study includes staff members from Fondazione Policlinico Universitario Agostino Gemelli IRCCS, enrolled at the outpatient clinics of the Cardiology Department.

Main Research Questions:

1. Does receiving PRS disclosure and personalized coaching lead to significant improvements in lifestyle behaviors compared to baseline measurements?

2. How do different levels of genetic predisposition to cardiovascular diseases (CVD) impact behavioral changes following intervention? This is a single arm, pre-post clinical trial.

Participant will:

• Undergo genetic testing to assess their Polygenic Risk Score for CVDs
• receive personalized, in-person consultation with a medical cardiologis, together with and individualized recommendations for CVD prevention based on PRS results and traditional risk factors.

Detailed Description

This study aims to evaluate the efficacy of disclosing cardiovascular genetic risk-specifically through the Polygenic Risk Score (PRS)-in promoting the adoption of healthier lifestyle behaviors.

The enrollment period will last 18 months, with each participant taking part in the study for six months. There are three key time points in the study, T0 or baseline (enrollment phase), T1 or disclosure visit, T2 or final visit at six months. At enrollment, participants will be classified into risk categories based on cardiovascular risk using the SCORE-2 or SCORE 2-OP tool. Individuals with a SCORE-2 <10% or SCORE 2-OP <15% will be invited to join the PHC pilot study.

Study Procedures Baseline Evaluations (T0)

After providing informed consent specific to the PHC study, participants will undergo the following assessments:

• Personal and Family History, Socioeconomic and Professional Status, and Demographic Information: a structured questionnaire will be administered at T0 to collect data on medical history, family history, socioeconomic and professional status, and demographic information.
• LE'8 Lifestyle Questionnaire: the Life's Essential 8 (LE'8) lifestyle questionnaire will be administered at T0 and T2. It generates a lifestyle score that categorizes participants into three groups: favorable, intermediate, or unfavorable. Validated in European populations and widely used in clinical studies, the scale ranges from 0 to 100.
• Medical Examination: includes biometric measurements such as BMI, body circumference, heart rate, and blood pressure.
• Blood Test Results: participants will provide recent blood test results (within the last six months) for lipid profiles, C-reactive protein (CRP), and glucose or hemoglobin A1c, which will be used to calculate the SCORE-2/SCORE 2-OP score.
• Blood Sampling: blood samples will be collected to perform genetic testing and assess cardiovascular disease risk through Polygenic Risk Scores (PRS).
• Anxiety Assessment (GAD-7): Participants will complete the Generalized Anxiety Disorder (GAD-7) questionnaire at T0 and T2 to assess anxiety levels.
• Work Ability: Participants will complete the Work Ability Index (WAI) questionnaire at T0 and T2 to assess their work ability.

Disclosure Visit (T1)

Approximately one month after T0, participants will undergo a telematic follow-up visit, during which:

• Their lifestyle score will be explained.
• Personalized preventive advice will be provided to encourage healthier lifestyle changes.
• PRS results will be disclosed, along with the corresponding genetic risk category (high, intermediate, or normal).

Follow-up Visit (T2)

Six months after the disclosure visit (T1), participants will undergo a comprehensive follow-up evaluation, which will include:

• Lifestyle Questionnaire: Assessment of lifestyle changes since T0.
• Recalculation of Lifestyle Category: Based on updated responses to the lifestyle questionnaire.
• Biometric Measurements: Includes weight, BMI, body circumference, heart rate, and blood pressure.
• Acceptability Questionnaire: Both participants and medical professionals will complete a questionnaire on the acceptability of the intervention.
• Preferences on Technology Use: A questionnaire assessing participants' values and preferences regarding new technologies in healthcare.
• Genetic Testing Reaction (FACToR): A modified version of the MICRA questionnaire will be used to evaluate participants' reactions to genetic testing.
• WAI questionnaire to evaluate their work ability

Conditions

Cardiovascular Diseases

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: PREVENTION
• Blinding Strategy: NONE

Study Groups

PRS

Lifestyle coaching and genetic intervention: calculation of the Polygenic Risk Score (PRS)

Group Type: EXPERIMENTAL

The result of the Polygenic Risk Score will be communicated to the patient with the aim of encouraging a change in behavior

Intervention Type: BEHAVIORAL

Blood samples collected for the calculation of the genetic predisposition profile for Cardiovascular risk will be used for DNA extraction and genotyping, and the PRS will subsequently be calculated. Based on the results, individuals will be classified into three main CVD risk categories (high risk, intermediate risk, low risk)

Interventions

The result of the Polygenic Risk Score will be communicated to the patient with the aim of encouraging a change in behavior

Blood samples collected for the calculation of the genetic predisposition profile for Cardiovascular risk will be used for DNA extraction and genotyping, and the PRS will subsequently be calculated. Based on the results, individuals will be classified into three main CVD risk categories (high risk, intermediate risk, low risk)

Intervention Type: BEHAVIORAL

Eligibility Criteria

Inclusion Criteria

• Traditional cardiovascular risk: The risk will be assessed using SCORE 2 (low risk < 2.5%, moderate risk between 2.5% and 5%, high risk between 5% and 10%) or SCORE 2-OP (moderate risk < 7.5%, high risk between 7.5% and 15%).
• Blood tests: Participants must have had blood tests performed within the past 6 months.
• Age: Participants must be at least 40 years old.

Exclusion Criteria

• Very high cardiovascular risk, as measured by SCORE 2 (very high risk > 10%) or SCORE 2-OP (very high risk > 15%).
• Diabetes.
• Familial hypercholesterolemia.
• Previous cardiovascular events or established CVD

• Minimum Eligible Age: 40 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Catholic University of the Sacred Heart

OTHER

Sponsor Role: lead

Responsible Party

Stefania Boccia

Full Professor of Hygiene and Preventive Medicine

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Dipartimento Universitario di Scienze della Vita e Sanità Pubblica

Roma, Italia, Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Stefania Boccia

Role: CONTACT

stefania.boccia@policlinicogemelli.it

+39 0630154396

Facility Contacts

Stefania Boccia

Role: primary

stefania.boccia@policlinicogemelli.it

0630154396

Related Links

https://health.ec.europa.eu/eu-health-policy/overview_en

EU Health Policy

https://www.governo.it/it

PNRR - Governo Italiano Presidenza del Consiglio dei Ministri

https://innovazione.gov.it

Next Generation Italia, approvato il piano del Governo - Next Generation Italia, approvato il piano del Governo

https://european-union.europa.eu/index_it

Personalised Medicine - European Commision

Other Identifiers

6732

Identifier Type: -

Identifier Source: org_study_id