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Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population
(Springer Science and Business Media LLC, 2010-01-07)
Lilian Jara
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Karen Dubois
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Daniel Gaete
;
Tomas de Mayo
;
Nikalai Ratkevicius
Scopus© Citations 41 3
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Genetics services in Latin America: a descriptive study of availability and utilization of genetics in healthcare
(Springer Science and Business Media LLC, 2025-09-29)
Ryan J. German
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Erin Atkinson
;
Eric A. Storch
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Claudia Soler-Alfonso
;
Sonia Margarit
Genetic 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 open-ended 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.
Scopus© Citations 1 1
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Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community
(2024)
Ricardo Fernández-Ramires
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Sebastián Morales-Pison
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Guilherme Gischkow Rucatti
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César Echeverría
;
Esteban San Martín
Scopus© Citations 3
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Genetic and epigenetic landscape of early-onset oral squamous cell carcinoma: Insights of genomic underserved and underrepresented populations
(2024)
Daniela Adorno-Farias
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Sebastián Morales-Pisón
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Guilherme Gischkow-Rucatti
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Sonia Margarit
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Ricardo Fernández-Ramires
Scopus© Citations 8 1
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Consenso para la consejería genética y diagnóstico molecular oncológicos: Declaración de Punta Arenas
(2023)
Ricardo Fernández-Ramires
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Sonia Margarit
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Sebastián Morales
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Conxi Lazaro
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Sara Álvarez
7Scopus© Citations 1
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Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population
(2012)
Lilian Jara
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Patricio Gonzalez-Hormazabal
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Kerube Cerceño
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Gabriella A. Di Capua
;
Jose M. Reyes
1Scopus© Citations 36
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Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families
(2010)
Patricio Gonzalez-Hormazabal
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Sara Gutierrez-Enriquez
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Daniel Gaete
;
Jose M. Reyes
;
Octavio Peralta
Scopus© Citations 39 2
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Peering into a Chilean Black Box: Parental Storytelling in Pediatric Genetic Counseling
(2013)
Jessica Ordonez
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Sonia Margarit
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Katy Downs
;
Beverly M. Yashar
<jats:title>Abstract</jats:title><jats:p>While genetic counseling has expanded to multiple international settings, research about providing culturally sensitive services to non‐U.S. patients is limited. To gain insights, we utilized a process study to explore parental communication in pediatric genetics clinics in Chile. We utilized a phenomenological hermeneutic approach to assess storytelling in six pediatric sessions that were conducted in Spanish, and translated into English. The majority of the sessions focused on information gathering (35 %), and providing medical (20 %) and genetics education (18 %). The 14 instances of storytelling we identified usually emerged during information gathering, genetics education, and the closing of the session. Stories illustrated parental efforts to create a cognitive and emotional context for their child's genetic diagnosis. Parents emerged as competent caregivers who discussed the role of the child as a social being in the family and the larger community. Our analysis found that genetic counseling sessions in the U.S. and Chile are structured similarly and although communication is not a balanced process, parents use storytelling to participate as active agents in the session. Via storytelling, we learned that parents are working to understand and gain control over their child's genetic diagnosis by relying on mechanisms that extend beyond the genetics appointment.</jats:p>
Scopus© Citations 1 1
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Latina immigrants’ breast and colon cancer causal attributions: genetics is key
(2023)
Katie Fiallos
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Jill Owczarzak
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Joann Bodurtha
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Sonia Margarit
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Lori H. Erby
Scopus© Citations 1 1
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Multiple synchronous adenocarcinomas of the small bowel in a young patient: A case report
(2018)
Cristián Cavalla
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Federico Oppliger
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GIANCARLO SCHIAPPACASSE FAUNDES
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Rodrigo Valderrama
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Adriana Castiblanco
1Scopus© Citations 3

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