Fernández-Ramires Ricardo, Morales-Pison Sebastián, Rucatti Guilherme Gischkow, Echeverría César, San Martín Esteban, Cammarata-Scalisi Francisco, Salas-Burgos Alexis, Adorno-Farias Daniela, González-Arriagada Wilfredo Alejandro, Espinosa-Parrilla Yolanda, Zapata-Contreras Daniela, Norese Gabriela, Lázaro Conxi, González Sara, Pujana Miguel Angel, Sullcahuaman Yasser, Margarit Sonia
Facultad de Medicina y Ciencias de la Salud. Universidad Mayor. Santiago, Chile.
Grupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile.
Genet Med Open. 2024 Oct 30;2(Suppl 2):101898. doi: 10.1016/j.gimo.2024.101898. eCollection 2024.
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.
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.
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.
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.
尽管基因组学取得了快速进展,智利也颁布了新的癌症法,但由于资源和基础设施有限,癌症遗传咨询的实施仍面临重大挑战。
我们针对为癌症患者提供遗传咨询且接受过遗传学和咨询培训的医疗保健提供者进行了一项调查。此外,我们向与一个倡导组织相关的高危患者分发了另一项调查,以收集他们对癌症遗传咨询的看法和经历的见解。
在接受调查的提供者中,21%是非医学专业人员,他们通过研究生继续教育项目培养了技能。47%的病例未进行种系检测。在参与者中,37%认为遗传咨询对于了解其癌症病因很重要,25%重视了解自己未来患肿瘤的风险,33%认为这将有利于他们目前的癌症治疗。略多于一半的患者(54%)能够获得遗传咨询。在接受遗传咨询的患者中,85%认为其有益。
在智利,遗传咨询的障碍依然存在,特别是在农村地区,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至关重要,同时要扩大培训和基础设施。了解患者的看法、增加接受培训的遗传咨询人员数量以纳入癌症护理、教育临床医生以及倡导增加可及性,是提高智利癌症治疗效果的关键步骤。