在哥伦比亚实施多基因风险分层和基因组咨询:一项嵌入式混合方法研究。

IF 3 3区 医学 Q2 HEALTH CARE SCIENCES & SERVICES
Cesar Augusto Buitrago, Melisa Naranjo Vanegas, Harvy Mauricio Velasco, Danny Styvens Cardona, Juan Pablo Valencia-Arango, Sofia Lorena Franco, Lina María Torres, Johana Cañaveral, Diana Patricia Silgado, Andrea López Cáceres
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引用次数: 0

摘要

背景:在拉丁美洲,乳腺癌仍然是一个主要的公共卫生挑战,在那里获得个性化风险评估工具的机会仍然有限。本研究旨在评估基于多基因风险评分(PRS)的分层模型结合远程基因组咨询在哥伦比亚散发性乳腺癌妇女和健康妇女中的实施情况。方法:2023年,在Medellín进行了一项嵌入式混合方法观察性研究,涉及1997名年龄在40-75岁之间接受临床PRS测试的女性。干预将基于prs的风险分类与个体化风险因素评估以及通过远程咨询平台提供的生活方式建议相结合。结果:PRS分析将9.7%的女性归为高危,46%归为低危。健康的生活方式与较低的PRS分类显著相关(p = 0.034)。体育活动显示出保护作用(OR = 0.60, 95% CI: 0.5-0.8),而先前吸烟、BMI升高和久坐行为与高风险相关。该咨询模式取得了较高的交付率(93%)和满意率(85%)。定性见解揭示了对基因组风险的更好理解和对预防行为的更大参与。在中等风险的参与者中,只发现了一例新的乳腺癌病例,诊断提前期为12个月。结论:这些发现支持了将PRS和基因组咨询整合到中等收入地区癌症预防策略中的可行性、可接受性和潜在影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.

Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.

Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.

Implementation of Polygenic Risk Stratification and Genomic Counseling in Colombia: An Embedded Mixed-Methods Study.

Background: Breast cancer remains a major public health challenge in Latin America, where access to personalized risk assessment tools is still limited. This study aimed to evaluate the implementation of a polygenic risk score (PRS)-based stratification model combined with remote genomic counseling in Colombian women with sporadic breast cancer and healthy women. Methods: In 2023, an embedded mixed-methods observational study was conducted in Medellín involving 1997 women aged 40-75 years who underwent clinical PRS testing. The intervention integrated PRS-based risk categorization with individualized risk factor assessment and lifestyle recommendations delivered through a remote counseling platform. Results: PRS analysis classified 9.7% of women as high risk and 46% as low risk. Healthier lifestyle patterns were significantly associated with lower PRS categories (p = 0.034). Physical activity showed a protective effect (OR = 0.60, 95% CI: 0.5-0.8), while prior smoking, elevated BMI, and sedentary behavior were associated with higher risk. The counseling model achieved high delivery (93%) and satisfaction (85%) rates. Qualitative insights revealed improved understanding of genomic risk and greater engagement in preventive behaviors. Only one new case of breast cancer was detected among intermediate-risk participants, with a diagnostic lead time of 12 months. Conclusions: These findings support the feasibility, acceptability, and potential impact of integrating PRS and genomic counseling in cancer prevention strategies in middle-income settings.

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来源期刊
Journal of Personalized Medicine
Journal of Personalized Medicine Medicine-Medicine (miscellaneous)
CiteScore
4.10
自引率
0.00%
发文量
1878
审稿时长
11 weeks
期刊介绍: Journal of Personalized Medicine (JPM; ISSN 2075-4426) is an international, open access journal aimed at bringing all aspects of personalized medicine to one platform. JPM publishes cutting edge, innovative preclinical and translational scientific research and technologies related to personalized medicine (e.g., pharmacogenomics/proteomics, systems biology). JPM recognizes that personalized medicine—the assessment of genetic, environmental and host factors that cause variability of individuals—is a challenging, transdisciplinary topic that requires discussions from a range of experts. For a comprehensive perspective of personalized medicine, JPM aims to integrate expertise from the molecular and translational sciences, therapeutics and diagnostics, as well as discussions of regulatory, social, ethical and policy aspects. We provide a forum to bring together academic and clinical researchers, biotechnology, diagnostic and pharmaceutical companies, health professionals, regulatory and ethical experts, and government and regulatory authorities.
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