Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- В протоколе указаны: The result of the Polygenic Risk Score will be communicated to the patient with the aim of encouraging a change in behavior.
- Кому может быть актуально
- Состояния в реестре: Cardiovascular Diseases. Базовые параметры: от 40 лет · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Италия
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Personalised HeartCare: Poligenic Risk Scores Disclosure for Cardiovascular Prevention and Behavioral Change
Обзор
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.
Подробное описание
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
Вмешательства
- Поведенческое 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)
Первичные конечные точки
- Change in the lifestyle profile [Срок оценки: From enrollment to the final follow-up at 6 months.]
Вторичные конечные точки (11)
- Change in the LDL-Cholesterol [Срок оценки: From enrollmentto the final follow-up at 6 months]
- Change in cardiovascular disease risk [Срок оценки: From enrollment to the final follow-up at 6 months.]
- Smoking habit modification [Срок оценки: From enrollment to the final follow-up at 6 months.]
- Change in Alcohol Consumption [Срок оценки: From enrollment to the final follow-up at 6 months.]
- Anxiety [Срок оценки: Measured at enrollment and again one month after receiving PRS results.]
- Reaction to genetic test [Срок оценки: Measured 1 month after the baseline visit]
- Change in dietary habits score (Life's Essential 8 questionnaire) [Срок оценки: From enrollment to the final follow-up at 6 months]
- Change in physical activity score (Life's Essential 8 questionnaire) [Срок оценки: From enrollment to the final follow-up at 6 months]
- Accetability of PRS testing [Срок оценки: Measured at 6 months at the final follow-up]
- Feasibility of the PRS testing [Срок оценки: Measured at 6 months at the final follow-up]
- Change in self-assessed work ability (Work Ability Index, WAI) [Срок оценки: From enrollment to the final follow-up at 6 months.]
Критерии участия
Критерии включения
- 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.
Критерии исключения
- 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
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Распределение
- Не применимо
- Модель
- Одна группа
- Маскирование
- Открытое
- Основная цель
- Профилактика
Центры проведения
Италия · 1 центр
- Dipartimento Universitario di Scienze della Vita e Sanità Pubblica — Roma
Публикации
- 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
Идентификаторы
NCT: NCT06888466 · 6732