Mongelli Matteo, De Angelis Biagio, Delle Cave Valeria, Greco Giuliano, De Arcangelis Arianna, Bernagozzi Andrea, Salvemini Chiara, Calabrese Matteo, Christille Jean Marc, Cavalli Andrea, Gustincich Stefano, Monaci Maria Grazia
CMP3VdA, Istituto Italiano di Tecnologia (IIT), Via Lavoratori Vittime del Col du Mont, 28, 11100 Aosta, Italy.
Communication and External Relations Directorate, Istituto Italiano di Tecnologia (IIT), Via Morego 30, 16163 Genova, Italy.
J Pers Med. 2025 Feb 24;15(3):80. doi: 10.3390/jpm15030080.
: Precision medicine (PM) considers the genetic variability of individuals to identify tailored diagnosis and treatments. It relies on the possibility of gathering the widest possible health data and genetic information from individuals to obtain a broad pool of comparative data. To achieve this goal, the Region of Valle d'Aosta, since 2019, has co-financed the research center CMPVdA, aiming to sequence 5000 genomes of patients with neurodevelopmental, neurodegenerative, oncological, and organ transplantation diseases, and to investigate the genetic variability of the resident population. This paper presents the results of an online survey of 472 (328F) respondents regarding willingness to participate in the genomic project and awareness, attitudes, and concerns about PM. : The main results show that the vast majority (92.6%) would be willing to participate-a higher percentage than in previous studies. Age, education, and prior experience in the healthcare sector are significant factors influencing the awareness of PM. Additionally, subgroups organized by age, gender, and religiosity show significant differences with respect to participants' reasons for participating in research and which types of biological samples they would be willing to donate. : Our findings can serve as a guide for stakeholders-particularly policymakers-to target institutional communication and achieve maximum participation in genomic research projects.
精准医学（PM）考虑个体的基因变异性，以确定个性化的诊断和治疗方法。它依赖于从个体收集尽可能广泛的健康数据和基因信息的可能性，以获得大量的比较数据。为实现这一目标，自2019年以来，瓦莱达奥斯塔地区共同资助了研究中心CMPVdA，旨在对患有神经发育、神经退行性、肿瘤和器官移植疾病的患者的5000个基因组进行测序，并调查当地居民的基因变异性。本文介绍了一项针对472名（328名女性）受访者开展的在线调查结果，内容涉及参与基因组项目的意愿以及对精准医学的认识、态度和担忧。主要结果表明，绝大多数（92.6%）受访者愿意参与，这一比例高于以往研究。年龄、教育程度和医疗保健领域的既往经验是影响精准医学认知的重要因素。此外，按年龄、性别和宗教信仰划分的亚组在参与者参与研究的原因以及他们愿意捐赠的生物样本类型方面存在显著差异。我们的研究结果可为利益相关者，尤其是政策制定者提供指导，以便针对机构宣传进行精准定位，并最大限度地提高基因组研究项目的参与度。
