Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community
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...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
|
| Series: | Genetics in Medicine Open |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424010446 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850257549454999552 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Ricardo Fernández-Ramires |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-0c70d67d56e64f998b5bc419e6dc026e |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-0c70d67d56e64f998b5bc419e6dc026e2025-08-20T01:56:24ZengElsevierGenetics in Medicine Open2949-77442024-01-01210189810.1016/j.gimo.2024.101898Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American CommunityRicardo Fernández-Ramires0Sebastián Morales-Pison1Guilherme Gischkow Rucatti2César Echeverría3Esteban San Martín4Francisco Cammarata-Scalisi5Alexis Salas-Burgos6Daniela Adorno-Farias7Wilfredo Alejandro González-Arriagada8Yolanda Espinosa-Parrilla9Daniela Zapata-Contreras10Gabriela Norese11Conxi Lázaro12Sara González13Miguel Angel Pujana14Yasser Sullcahuaman15Sonia Margarit16Facultad de Medicina y Ciencias de la Salud. Universidad Mayor. Santiago, Chile; Grupo Chileno de Cáncer Hereditario (GCCH), Santiago, ChileFacultad de Medicina y Ciencias de la Salud. Universidad Mayor. Santiago, Chile; Grupo Chileno de Cáncer Hereditario (GCCH), Santiago, ChileFacultad de Medicina y Ciencias de la Salud. Universidad Mayor. Santiago, Chile; Grupo Chileno de Cáncer Hereditario (GCCH), Santiago, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; ATACAMA-OMICS, Facultad de Medicina. Universidad de Atacama. Copiapó, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Hospital Clínico Regional de Concepción Guillermo Grant Benavente. Concepción, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Hospital Regional de Antofagasta. Antofagasta, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Departamento de Farmacología, Facultad de Ciencias Biológicas, Universidad de Concepción, Concepción, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Facultad de Odontología. Universidad de Chile, Santiago, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Facultad de Odontología, Universidad de los Andes, Santiago, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Genómica Evolutiva y Médica de Magallanes (GEMMa), Centro Asistencial, Docente e Investigación (CADI-UMAG), Universidad de Magallanes, Punta Arenas, Chile; Escuela de Medicina, Universidad de Magallanes, Punta Arenas, ChileGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Genómica Evolutiva y Médica de Magallanes (GEMMa), Centro Asistencial, Docente e Investigación (CADI-UMAG), Universidad de Magallanes, Punta Arenas, Chile; Escuela de Medicina, Universidad de Magallanes, Punta Arenas, ChileUniversidad de Buenos Aires, Escobar, ArgentinaPrograma de Cáncer Hereditario. Instituto Catalán de Oncología. Barcelona, SpainPrograma de Cáncer Hereditario. Instituto Catalán de Oncología. Barcelona, SpainProCURE, Instituto Catalán de Oncología, Instituto de Investigación Biomédica Bellvitge (IDIBELL), Barcelona, EspañaInstituto Nacional de Enfermedades Neoplasicas (INEN). Lima, PerúGrupo Chileno de Cáncer Hereditario (GCCH), Santiago, Chile; Clínica Alemana, Facultad de Medicina, Universidad del Desarrollo, Santiago, Chile; Correspondence and requests for materials should be addressed to Sonia Margarit, Universidad del Desarrollo, Instituto de Ciencias e Innovación en Medicina (ICIM), Av Plaza 680, 7610658 Las Condes, Región Metropolitana, ChilePurpose: 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.http://www.sciencedirect.com/science/article/pii/S2949774424010446Genetic counselingHereditary cancerSurvey |
| spellingShingle | 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 Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community Genetics in Medicine Open Genetic counseling Hereditary cancer Survey |
| title | Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community |
| title_full | Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community |
| title_fullStr | Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community |
| title_full_unstemmed | Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community |
| title_short | Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community |
| title_sort | cancer genetic counseling in chile addressing barriers confronting challenges and seizing opportunities in an underserved latin american community |
| topic | Genetic counseling Hereditary cancer Survey |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424010446 |
| work_keys_str_mv | AT ricardofernandezramires cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT sebastianmoralespison cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT guilhermegischkowrucatti cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT cesarecheverria cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT estebansanmartin cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT franciscocammaratascalisi cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT alexissalasburgos cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT danielaadornofarias cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT wilfredoalejandrogonzalezarriagada cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT yolandaespinosaparrilla cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT danielazapatacontreras cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT gabrielanorese cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT conxilazaro cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT saragonzalez cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT miguelangelpujana cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT yassersullcahuaman cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity AT soniamargarit cancergeneticcounselinginchileaddressingbarriersconfrontingchallengesandseizingopportunitiesinanunderservedlatinamericancommunity |