Clinical trial NCT06888466: Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention
Official title: Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention and Behavioral Change
Study type: INTERVENTIONAL
Overall status: NOT_YET_RECRUITING
Phase: NA
Conditions: Cardiovascular Diseases
Keywords: Cardiovascular prevention
Polygenic Risk Score
Lead sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Sponsor class: OTHER
First posted: 2025-03-21
Enrollment: 455
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: PREVENTION

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.

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.

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 18 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.

Primary outcomes:
measure: Change in the lifestyle profile
timeFrame: From enrollment to the final follow-up at 6 months.
Secondary outcomes:
measure: Smoking habit modification
timeFrame: From enrollment to the final follow-up at 6 months.
measure: Change in Alcohol Consumption
timeFrame: From enrollment to the final follow-up at 6 months.
measure: Anxiety
timeFrame: Measured at enrollment and again one month after receiving PRS results.
measure: Reaction to genetic test
timeFrame: Measured 1 month after the baseline visit
Other outcomes:
Locations:
city: Roma
country: Italy
facility: Dipartimento Universitario di Scienze della Vita e Sanità Pubblica
state: Italia
Study officials:
References: