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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:
Participant will:
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:
Disclosure Visit (T1)
Approximately one month after T0, participants will undergo a telematic follow-up visit, during which:
Follow-up Visit (T2)
Six months after the disclosure visit (T1), participants will undergo a comprehensive follow-up evaluation, which will include:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| PRS | Experimental | Lifestyle coaching and genetic intervention: calculation of the Polygenic Risk Score (PRS) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| The result of the Polygenic Risk Score will be communicated to the patient with the aim of encouraging a change in behavior | 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) |
| Measure | Description | Time Frame |
|---|---|---|
| Change in the lifestyle profile | The lifestyle category will be measured using the Life's Essential 8 tool. A change will be considered achieved if there is a shift towards a more favorable lifestyle category at final follow-up at 6 months compared to baseline. The overall score ranges from 0 to 100, and the categories are three:
| From enrollment to the final follow-up at 6 months. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in the LDL-Cholesterol | LDL-cholesterol (LDL-C) will be measured in mg/dL from fasting blood samples. The outcome will be defined as the change in LDL-C levels between baseline (enrollment) and final follow-up at 6 months. | From enrollmentto the final follow-up at 6 months |
| Change in cardiovascular disease risk |
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Inclusion criteria
Exclusion Criteria
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Stefania Boccia | Contact | +39 0630154396 | stefania.boccia@policlinicogemelli.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Dipartimento Universitario di Scienze della Vita e Sanità Pubblica | Recruiting | Roma | Italia | 00168 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41941500 | Derived | Russo L, Proto L, Farina S, Pascucci E, Galarducci R, Pasciuto T, Severino A, Liuzzo G, Urbani A, Iavicoli I, Pastorino R, Boccia S. Polygenic Risk Scores disclosure for cardiovascular prevention: Protocol of the Personalized HeartCare (PHC) trial. PLoS One. 2026 Apr 6;21(4):e0345294. doi: 10.1371/journal.pone.0345294. eCollection 2026. |
| Label | URL |
|---|---|
| EU Health Policy | View source |
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The CVD risk of participants will be estimated using the SCORE2 (for individuals aged 40-69 years) and SCORE2-OP (for individuals aged ≥70 years) charts. A change will be defined as a shift towards a lower estimated risk at 6-month follow-up compared to baseline. The SCORE2 and SCORE2-OP classify individuals into four categories of 10-year risk of CVD events:
|
| From enrollment to the final follow-up at 6 months. |
| Smoking habit modification | Number of participants who have quit or reduced smoking at the final follow-up at 6 months compared to baseline. | From enrollment to the final follow-up at 6 months. |
| Change in Alcohol Consumption | Number of participants who have quit or reduced alcohol consumption at the final follow-up at 6 months compared to baseline. | From enrollment to the final follow-up at 6 months. |
| Anxiety | Level of anxiety before and after the administration of Polygenic Risk Score testing and the disclosure of results, measured through the GAD-7 questionnaire. The total score ranges from 0 to 21, with higher scores indicating greater anxiety severity (0-4: Minimal anxiety; 5-9: Mild anxiety; 10-14: Moderate anxiety; 15-21: Severe anxiety) | Measured at enrollment and again one month after receiving PRS results. |
| Reaction to genetic test | Evaluation of the psychosocial impact of returning genomic findings to patients, through the FACToR questionnaire. It consists of 12 items divided into four subscales: negative emotions, positive emotions, uncertainty, and privacy concerns. | Measured 1 month after the baseline visit |
| Change in dietary habits score (Life's Essential 8 questionnaire) | Dietary habits will be assessed using the diet component of the Life's Essential 8 questionnaire. Scores range from 0 (poor) to 100 (ideal), based on frequency and quality of food intake (e.g., fruit/vegetable consumption, whole grains, sugar-sweetened beverages, fish, sodium intake). A higher score indicates healthier dietary habits. The outcome will be defined as the change in diet score from baseline to 6-month follow-up. | From enrollment to the final follow-up at 6 months |
| Change in physical activity score (Life's Essential 8 questionnaire) | Physical activity will be assessed using the activity component of the Life's Essential 8 questionnaire. Scores range from 0 (poor) to 100 (ideal), based on self-reported weekly minutes of moderate-to-vigorous physical activity. A higher score indicates more favorable physical activity behavior. The outcome will be defined as the change in activity score from baseline to 6-month follow-up. | From enrollment to the final follow-up at 6 months |
| Accetability of PRS testing | Acceptability of PRS testing will be assessed with a 7-item structured questionnaire completed by clinicians. Each item is rated on a 1-4 Likert scale (1 = strongly disagree, 4 = strongly agree). The outcome will be defined as the proportion of clinicians and of patients reporting high acceptability (scores of 3-4). | Measured at 6 months at the final follow-up |
| Feasibility of the PRS testing | Feasibility of integrating PRS testing into the clinical care pathway will be evaluated using an 11-item questionnaire administered to physicians. Responses are rated on a 1-4 Likert scale (1 = strongly disagree, 4 = strongly agree). The endpoint will be the proportion of clinicians reporting high acceptability (scores of 3-4) of PRS testing. | Measured at 6 months at the final follow-up |
| Change in self-assessed work ability (Work Ability Index, WAI) | Work ability will be evaluated among employed participants using the Work Ability Index (WAI). The questionnaire consists of approximately 60 items across seven subscales: (1) current work ability compared with lifetime best, (2) work ability in relation to job demands, (3) number of current diseases diagnosed by a physician, (4) estimated work impairment due to diseases, (5) sick leave during the past year, (6) own prognosis of work ability in two years, and (7) mental resources. The outcome will be defined as the change in WAI total score from baseline to 6-month follow-up. | From enrollment to the final follow-up at 6 months. |
| PNRR - Governo Italiano Presidenza del Consiglio dei Ministri | View source |
| Next Generation Italia, approvato il piano del Governo - Next Generation Italia, approvato il piano del Governo | View source |
| Personalised Medicine - European Commision | View source |
| ID | Term |
|---|---|
| D002318 | Cardiovascular Diseases |
| D000096442 | Genetic Risk Score |
| ID | Term |
|---|---|
| D020022 | Genetic Predisposition to Disease |
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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