Person: Margarit, Sonia
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Margarit
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Sonia
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Publication Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community(2024) FernĆ”ndez-Ramires, Ricardo; Morales-Pison, SebastiĆ”n; Gischkow Rucatti, Guilherme; EcheverrĆa, CĆ©sar; San MartĆn, E; Cammarata-Scalisi, Francisco; Salas-Burgos, Alexis; Adorno-Farias, Daniela; GonzĆ”lez-Arriagada, Wilfredo Alejandro; Espinosa-Parrilla, Yolanda; Zapata-Contreras, Daniela; Norese, Gabriela; LĆ”zaro, Conxi; GonzĆ”lez, Sara; Pujana, Miguel Angel; Sullcahuaman, Yasser; Margarit, SoniaPurpose 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 counselingās 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.Publication Genetics services in Latin America: a descriptive study of availability and utilization of genetics in healthcare(2025) German, Ryan; Atkinson, Erin; Storch, Eric; Soler, Claudia; Margarit, Sonia; Lupo, Philip; Pereira, StaceyGenetic services are expanding globally, but access remains limited in low-resource regions such as Latin America. Understanding current service availability, barriers, and facilitators is critical to guide capacity building and improve patient care. We conducted a cross-sectional survey of healthcare professionals providing genetic services in Latin America. The survey, available in Spanish and English, assessed genetic services, referral patterns, testing availability, barriers, facilitators, and perceived needs. Descriptive statistics summarized quantitative data, and thematic analysis was applied to openended responses. Eighty-five respondents from 18 countries reported broad clinical activity across pediatric, cancer, and adult-onset genetic conditions. Commonly ordered tests included karyotype, gene panels, and exome sequencing, with many sending samples abroad. Key barriers included high costs, workforce shortages, and limited clinician familiarity with testing. Facilitators included clinician interest and laboratory partnerships. Respondents emphasized the need for expanded test access, workforce development, and increased training opportunities. Genetic services in Latin America show substantial growth but face persistent barriers. Strengthening local infrastructure, training, and collaborative efforts is essential to improve access, reduce diagnostic delays, and enhance patient outcomes.