دورية أكاديمية
أعرض في EDS

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.

التفاصيل البيبلوغرافية
العنوان: Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
المؤلفون: Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Beighley JS; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA., Carey JC; Department of Pediatrics, University of Utah Health, Salt Lake City, Utah, USA., Donald T; Grenada General Hospital, Pediatrics Ward, St. George's, Grenada.; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Figueroa KP; Department of Neurology, University of Utah, Salt Lake City, Utah, USA., Gerdts J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA., Hamlet A; Grenada General Hospital, Pediatrics Ward, St. George's, Grenada.; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Pulst SM; Department of Neurology, University of Utah, Salt Lake City, Utah, USA., Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tassone F; Department of Biochemistry and Molecular Medicine, University of California Davis, School of Medicine, Sacramento, California, USA.; MIND Institute, University of California Davis Medical Center, Sacramento, California, USA., Toriello HV; Department of Pediatrics/Human Development College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA., Walker RH; Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, New York, USA.; Department of Neurology, Mount Sinai School of Medicine, New York City, New York, USA., Yearwood KR; St. George's University, University Health Services, St. George's, Grenada., Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Dec; Vol. 184 (4), pp. 1030-1041. Date of Electronic Publication: 2020 Dec 04.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: Hoboken, NJ : Wiley-Blackwell
Original Publication: Hoboken, NJ : Wiley-Liss, c2003-
مواضيع طبية MeSH: Autism Spectrum Disorder* , Physicians*, Child ; Delivery of Health Care ; Humans ; Referral and Consultation ; West Indies
مستخلص: 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.
(© 2020 Wiley Periodicals LLC.)
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معلومات مُعتمدة: K08 NS092898 United States NS NINDS NIH HHS; R01 NS092772 United States NS NINDS NIH HHS; K08NS092898 United States NS NINDS NIH HHS
فهرسة مساهمة: Keywords: Caribbean; West Indies; clinical genetic testing
تواريخ الأحداث: Date Created: 20201204 Date Completed: 20210917 Latest Revision: 20211221
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC8683562
DOI: 10.1002/ajmg.c.31871
PMID: 33274544
قاعدة البيانات: MEDLINE
الوصف
تدمد:1552-4876
DOI:10.1002/ajmg.c.31871