Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community

Ricardo Fernández-Ramires , Sebastián Morales-Pison , Guilherme Gischkow Rucatti , César Echeverría , Esteban San Martín , Francisco Cammarata-Scalisi , Alexis Salas-Burgos , Daniela Adorno-Farias , Wilfredo Alejandro González-Arriagada , Yolanda Espinosa-Parrilla , Daniela Zapata-Contreras , Gabriela Norese , Conxi Lázaro , Sara González , Miguel Angel Pujana , Yasser Sullcahuaman , Sonia Margarit
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Abstract

Purpose

Despite the rapid advancements in genomics and the enactment of a new cancer law in Chile, the implementation of cancer genetic counseling continues to face significant challenges because of limited resources and infrastructure.

Methods

We conducted a survey targeting health care providers who offer genetic counseling to patients with cancer and possess training in genetics and counseling. Additionally, we distributed a separate survey to high-risk patients associated with an advocacy group to gather insights on their perceptions of and experiences with cancer genetic counseling.

Results

Among the surveyed providers, 21% were nonmedical professionals who developed their skills through postgraduate continuing education programs. Germline testing was not performed in 47% of cases. Among the participants, 37% considered genetic counseling important for understanding the cause of their cancer, 25% valued knowing their risk of developing future tumors, and 33% believed it would benefit their current cancer treatment. Just over half of the patients (54%) had access to genetic counseling. Among those that received genetic counseling, 85% found it beneficial.

Conclusion

In Chile, barriers to genetic counseling persist, particularly in rural areas and because of a shortage of trained professionals. Public policies recognizing genetic counseling’s importance are crucial, along with expanding training and infrastructure. Understanding patient perceptions and increasing the number of trained genetic counseling into cancer care, educating clinicians, and advocating for increased access are key steps for enhancing cancer treatment effectiveness in Chile.
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智利的癌症遗传咨询:在服务不足的拉丁美洲社区解决障碍,面对挑战,抓住机遇。
目的:尽管基因组学取得了快速发展,智利颁布了新的癌症法律,但由于资源和基础设施有限,癌症遗传咨询的实施仍然面临着重大挑战。方法:我们对为癌症患者提供遗传咨询并接受过遗传学和咨询培训的卫生保健提供者进行了调查。此外,我们分发了一份单独的调查给与倡导团体相关的高风险患者,以收集他们对癌症遗传咨询的看法和经验的见解。结果:在接受调查的提供者中,21%是通过研究生继续教育项目发展技能的非医疗专业人员。47%的病例未进行生殖系检测。在参与者中,37%的人认为遗传咨询对了解癌症的原因很重要,25%的人认为了解他们未来患肿瘤的风险很重要,33%的人认为遗传咨询对他们目前的癌症治疗有益。超过一半的患者(54%)有机会获得遗传咨询。在接受遗传咨询的人中,85%的人认为这是有益的。结论:在智利,遗传咨询的障碍仍然存在,特别是在农村地区,并且由于缺乏训练有素的专业人员。认识到遗传咨询重要性的公共政策,以及扩大培训和基础设施是至关重要的。了解患者的看法,增加经过培训的癌症遗传咨询人员的数量,对临床医生进行教育,并倡导增加获取途径,是提高智利癌症治疗效果的关键步骤。
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