Chávarri-Guerra Yanin, Rodríguez-Olivares José Luis, Ramírez-González Alfredo, Moreno-Mirón José Manuel, Lagunas-Medina Alex, Peñafort-Zamora José Carlos, Arteaga-Vázquez Jazmin, Quintero-Beuló Gregorio, Sánchez-Reyes Roberto, Weitzel Jeffrey N
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Medical Oncology Affairs, AstraZeneca, Mexico City.
Genet Med Open. 2024 Jul 22;2(Suppl 2):101874. doi: 10.1016/j.gimo.2024.101874. eCollection 2024.
The purpose of this manuscript is to show the process of the establishment and adaptation of an oncogenetics program in Mexico.
The oncogentics program at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán was established as a traditional in-person service and adapted to include telemedicine counseling to expand services to other hospitals and persists as a mixed counseling model with research/commercial genetic testing.
A total of 2222 participants were included with a median age of 47 years and 77.6% were women; 64% and 36% were enrolled in person and by phone, respectively; 91.1% had research testing, 4.7% commercial testing, 2% complementary pharma testing, and 2.1% had more than 1 testing. Results disclosure was by phone for 49.6%, in person for 43.3%, and by videocall for 7.1% of the cases. Cascade testing proportion was similar in both groups (88%), and 14.8% probands and 40.8% family members had a positive result for a pathogenic cancer susceptibility gene variant.
Our results demonstrated that genetic cancer risk assessment is feasible in limited resources settings and provide evidence that telemedicine is effective and can be used as an alternative in real-world populations. Our model could be adapted and potentially replicated in other institutions and countries that face similar barriers for health care.
本手稿旨在展示墨西哥一个肿瘤遗传学项目的建立和调整过程。
萨尔瓦多·苏比拉án国家医学与营养科学研究所的肿瘤遗传学项目最初是作为传统的面对面服务设立的，后来进行了调整，纳入了远程医疗咨询，以便将服务扩展到其他医院，并持续作为一种结合了研究/商业基因检测的混合咨询模式。
共纳入2222名参与者，中位年龄为47岁，77.6%为女性；分别有64%和36%的参与者是亲自登记和通过电话登记的；91.1%接受研究检测，4.7%接受商业检测，2%接受补充药物检测，2.1%接受了不止一项检测。49.6%的病例通过电话披露结果，43.3%亲自披露，7.1%通过视频通话披露。两组的级联检测比例相似（88%），14.8%的先证者和40.8%的家庭成员携带致病性癌症易感性基因变异呈阳性结果。
我们的结果表明，在资源有限的情况下，遗传癌症风险评估是可行的，并提供了证据表明远程医疗是有效的，可作为现实人群中的一种替代方式。我们的模式可以在面临类似医疗保健障碍的其他机构和国家进行调整并可能复制。
