Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: The result of the Polygenic Risk Score will be communicated to the patient with the aim of encouraging a change in behavior.
- Who it may be relevant to
- Registry conditions: Cardiovascular Diseases. Basic parameters: from 40 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention and Behavioral Change
Overview
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
Interventions
- Behavioral 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)
Primary outcome measures
- Change in the lifestyle profile [Time frame: From enrollment to the final follow-up at 6 months.]
Secondary outcome measures (11)
- Change in the LDL-Cholesterol [Time frame: From enrollmentto the final follow-up at 6 months]
- Change in cardiovascular disease risk [Time frame: From enrollment to the final follow-up at 6 months.]
- Smoking habit modification [Time frame: From enrollment to the final follow-up at 6 months.]
- Change in Alcohol Consumption [Time frame: From enrollment to the final follow-up at 6 months.]
- Anxiety [Time frame: Measured at enrollment and again one month after receiving PRS results.]
- Reaction to genetic test [Time frame: Measured 1 month after the baseline visit]
- Change in dietary habits score (Life's Essential 8 questionnaire) [Time frame: From enrollment to the final follow-up at 6 months]
- Change in physical activity score (Life's Essential 8 questionnaire) [Time frame: From enrollment to the final follow-up at 6 months]
- Accetability of PRS testing [Time frame: Measured at 6 months at the final follow-up]
- Feasibility of the PRS testing [Time frame: Measured at 6 months at the final follow-up]
- Change in self-assessed work ability (Work Ability Index, WAI) [Time frame: From enrollment to the final follow-up at 6 months.]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Prevention
Study locations
Italy · 1 center
- Dipartimento Universitario di Scienze della Vita e Sanità Pubblica — Roma
Publications
- 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. PMID 41941500
Identifiers
NCT: NCT06888466 · 6732