Buitrago Cesar Augusto, Naranjo Vanegas Melisa, Velasco Harvy Mauricio, Cardona Danny Styvens, Valencia-Arango Juan Pablo, Franco Sofia Lorena, Torres Lina María, Cañaveral Johana, Silgado Diana Patricia, López Cáceres Andrea
Personalized Medicine Group, Gerencia de Biociencias, Ayudas Diagnósticas Sura, Medellín 050015, Colombia.
Data Science Department, Gerencia de Biociencias, Ayudas Diagnósticas Sura, Medellín 050015, Colombia.
J Pers Med. 2025 Aug 1;15(8):335. doi: 10.3390/jpm15080335.
: 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. : 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. : 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 ( = 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. : These findings support the feasibility, acceptability, and potential impact of integrating PRS and genomic counseling in cancer prevention strategies in middle-income settings.
乳腺癌仍然是拉丁美洲面临的一项重大公共卫生挑战，在该地区，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）的分层模型与远程基因组咨询相结合在哥伦比亚散发性乳腺癌女性和健康女性中的实施情况。
2023年，在麦德林开展了一项嵌入式混合方法观察性研究，纳入了1997名年龄在40 - 75岁之间接受临床PRS检测的女性。该干预措施将基于PRS的风险分类与通过远程咨询平台提供的个性化风险因素评估及生活方式建议相结合。
PRS分析将9.7%的女性归类为高风险，46%为低风险。更健康的生活方式模式与较低的PRS类别显著相关（P = 0.034）。体育活动显示出保护作用（OR = 0.60，95%CI：0.5 - 0.8），而既往吸烟、BMI升高和久坐行为与较高风险相关。咨询模型实现了高交付率（93%）和高满意度（85%）。定性分析结果显示，对基因组风险的理解有所改善，并且在预防行为方面的参与度更高。在中度风险参与者中仅检测到1例新的乳腺癌病例，诊断提前期为12个月。
这些发现支持了在中等收入环境中将PRS和基因组咨询纳入癌症预防策略的可行性、可接受性和潜在影响。
