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

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dc.contributor.authorFernández-Ramires, Ricardo
dc.contributor.authorMorales-Pison, Sebastián
dc.contributor.authorGischkow Rucatti, Guilherme
dc.contributor.authorEcheverría, César
dc.contributor.authorSan Martín, E
dc.contributor.authorCammarata-Scalisi, Francisco
dc.contributor.authorSalas-Burgos, Alexis
dc.contributor.authorAdorno-Farias, Daniela
dc.contributor.authorGonzález-Arriagada, Wilfredo Alejandro
dc.contributor.authorEspinosa-Parrilla, Yolanda
dc.contributor.authorZapata-Contreras, Daniela
dc.contributor.authorNorese, Gabriela
dc.contributor.authorLázaro, Conxi
dc.contributor.authorGonzález, Sara
dc.contributor.authorPujana, Miguel Angel
dc.contributor.authorSullcahuaman, Yasser
dc.contributor.authorMargarit, Sonia
dc.date.accessioned2025-01-14T20:33:48Z
dc.date.available2025-01-14T20:33:48Z
dc.date.issued2024
dc.description.abstractPurpose 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.
dc.description.versionVersión publicada
dc.format.extent9 p.
dc.identifier.citationFernández-Ramires R, Morales-Pison S, Rucatti GG, Echeverría C, San Martín E, Cammarata-Scalisi F, Salas-Burgos A, Adorno-Farias D, González-Arriagada WA, Espinosa-Parrilla Y, Zapata-Contreras D, Norese G, Lázaro C, González S, Pujana MA, Sullcahuaman Y, Margarit S. Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community. Genet Med Open. 2024 Oct 30;2(Suppl 2):101898. doi: 10.1016/j.gimo.2024.101898
dc.identifier.doihttps://doi.org/10.1016/j.gimo.2024.101898
dc.identifier.urihttps://hdl.handle.net/11447/9649
dc.language.isoen
dc.subjectGenetic counseling
dc.subjectHereditary cancer
dc.subjectSurvey
dc.titleCancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community
dc.typeArticle
dcterms.accessRightsAcceso abierto
dcterms.sourceGenetics in Medicine Open
dspace.entity.typePublication
relation.isAuthorOfPublication133b22b7-8e0f-49ca-9dd4-187e0736f436
relation.isAuthorOfPublication.latestForDiscovery133b22b7-8e0f-49ca-9dd4-187e0736f436

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