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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Sobering, Andrew K; Li, Dong; Beighley, Jennifer S; Carey, John C; Donald, Tyhiesia; Elsea, Sarah H; Figueroa, Karla P; Gerdts, Jennifer; Hamlet, Andre; Mirzaa, Ghayda M; Nelson, Beverly; Pulst, Stefan M; Smith, Janice L; Tassone, Flora; Toriello, Helga V; Walker, Ruth H; Yearwood, Katherine R; Bhoj, Elizabeth J.
Afiliação
  • Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.
  • Li D; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.
  • Beighley JS; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Carey JC; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
  • Donald T; Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA.
  • Elsea SH; Grenada General Hospital, Pediatrics Ward, St. George's, Grenada.
  • Figueroa KP; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.
  • Gerdts J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Hamlet A; Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
  • Mirzaa GM; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
  • Nelson B; Grenada General Hospital, Pediatrics Ward, St. George's, Grenada.
  • Pulst SM; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.
  • Smith JL; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Tassone F; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Toriello HV; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
  • Walker RH; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada.
  • Yearwood KR; Department of Neurology, University of Utah, Salt Lake City, Utah, USA.
  • Bhoj EJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Am J Med Genet C Semin Med Genet ; 184(4): 1030-1041, 2020 12.
Article em En | MEDLINE | ID: mdl-33274544
We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource-limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2-3 clinics per year on various islands in the Caribbean. We also organized a week-long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow-up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Médicos / Transtorno do Espectro Autista Limite: Child / Humans País/Região como assunto: Caribe Idioma: En Revista: Am J Med Genet C Semin Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Granada País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Médicos / Transtorno do Espectro Autista Limite: Child / Humans País/Região como assunto: Caribe Idioma: En Revista: Am J Med Genet C Semin Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Granada País de publicação: Estados Unidos