Literature DB >> 23744184

Medical genetics and genetic counseling in Chile.

Sonia B Margarit1, Mónica Alvarado, Karin Alvarez, Guillermo Lay-Son.   

Abstract

In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics.

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Year:  2013        PMID: 23744184     DOI: 10.1007/s10897-013-9607-1

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  5 in total

1.  Genetic services in Chile.

Authors:  Silvia Castillo Taucher
Journal:  Community Genet       Date:  2004

2.  Past, present and future of newborn screening in Chile.

Authors:  V Cornejo; E Raimann; J F Cabello; A Valiente; C Becerra; M Opazo; M Colombo
Journal:  J Inherit Metab Dis       Date:  2010-08-04       Impact factor: 4.982

3.  Wheat flour fortification with folic acid: changes in neural tube defects rates in Chile.

Authors:  Fanny Cortés; C Mellado; R A Pardo; L A Villarroel; E Hertrampf
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

4.  ECLAMC: the Latin-American collaborative study of congenital malformations.

Authors:  Eduardo E Castilla; Iêda M Orioli
Journal:  Community Genet       Date:  2004

5.  [Congenital malformations in Latin America in the period 1995-2008].

Authors:  Julio Nazer H; Lucía Cifuentes O
Journal:  Rev Med Chil       Date:  2011-04-11       Impact factor: 0.553

  5 in total
  9 in total

Review 1.  Genetic Cancer Risk Assessment for Breast Cancer in Latin America.

Authors:  Yanin Chavarri-Guerra; Kathleen Reilly Blazer; Jeffrey Nelson Weitzel
Journal:  Rev Invest Clin       Date:  2017 Mar-Apr       Impact factor: 1.451

2.  Peering into a Chilean black box: parental storytelling in pediatric genetic counseling.

Authors:  Jessica Ordonez; Sonia Margarit; Katy Downs; Beverly M Yashar
Journal:  J Genet Couns       Date:  2013-06-29       Impact factor: 2.537

Review 3.  Clinical Cancer Genetics Disparities among Latinos.

Authors:  Marcia Cruz-Correa; Julyann Pérez-Mayoral; Julie Dutil; Miguel Echenique; Rafael Mosquera; Keila Rivera-Román; Sharee Umpierre; Segundo Rodriguez-Quilichini; Maria Gonzalez-Pons; Myrta I Olivera; Sherly Pardo
Journal:  J Genet Couns       Date:  2016-12-12       Impact factor: 2.537

Review 4.  The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.

Authors:  Nick Dragojlovic; Kennedy Borle; Nicola Kopac; Ursula Ellis; Patricia Birch; Shelin Adam; Jan M Friedman; Amy Nisselle; Alison M Elliott; Larry D Lynd
Journal:  Genet Med       Date:  2020-06-24       Impact factor: 8.822

5.  Commentary to medical genetics and genomic medicine in Chile: Chilean experience on molecular diagnosis for neurodegenerative disorders.

Authors:  Marcelo Miranda; María Leonor Bustamante
Journal:  Mol Genet Genomic Med       Date:  2017-05-02       Impact factor: 2.183

6.  The Dublin Declaration on Maternal Health Care and Anti-Abortion Activism: Examples from Latin America.

Authors:  Lynn M Morgan
Journal:  Health Hum Rights       Date:  2017-06

7.  Ophthalmic genetics in South America.

Authors:  Malena Daich Varela; Rene Moya; Patricio G Schlottmann; Robert B Hufnagel; Claudia Arberas; Federico M Fernández; M Eugenia Inga; Juliana Lores; Harry Pachajoa; Carlos E Prada; Juliana M Ferraz Sallum
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-08-28       Impact factor: 3.359

8.  Medical genetics and genomic medicine in Chile: opportunities for improvement.

Authors:  Silvia Castillo Taucher
Journal:  Mol Genet Genomic Med       Date:  2015-07       Impact factor: 2.183

Review 9.  The Global State of the Genetic Counseling Profession.

Authors:  MaryAnn Abacan; Lamia Alsubaie; Kristine Barlow-Stewart; Beppy Caanen; Christophe Cordier; Eliza Courtney; Emeline Davoine; Janice Edwards; Niby J Elackatt; Kate Gardiner; Yue Guan; Lian-Hua Huang; Charlotta Ingvoldstad Malmgren; Sahil Kejriwal; Hyon J Kim; Deborah Lambert; Paulina Araceli Lantigua-Cruz; Juliana M H Lee; Marianne Lodahl; Åshild Lunde; Shelley Macaulay; Ivan Macciocca; Sonia Margarit; Anna Middleton; Ramona Moldovan; Joanne Ngeow; Alexandra J Obregon-Tito; Kelly E Ormond; Milena Paneque; Karen Powell; Kunal Sanghavi; Diana Scotcher; Jenna Scott; Clara Serra Juhé; Shiri Shkedi-Rafid; Tina-Marié Wessels; Sook-Yee Yoon; Catherine Wicklund
Journal:  Eur J Hum Genet       Date:  2018-10-05       Impact factor: 4.246

  9 in total

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