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在西印度群岛提供免费医学遗传学服务的经验:对患者、医生和社区的益处。

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

机构信息

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.

出版信息

Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1030-1041. doi: 10.1002/ajmg.c.31871. Epub 2020 Dec 4.

Abstract

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.

摘要

我们介绍了在西印度群岛的几个资源有限的岛屿上组织免费医学遗传学和神经病学外展项目的经验。由于地理位置偏远、人口规模小以及社会经济差异,大多数加勒比岛屿缺乏管理、诊断和咨询遗传疾病患者的医疗服务。从 2015 年到 2019 年,我们每年在加勒比地区的不同岛屿组织 2-3 次诊所。我们还组织了为期一周的诊所,为疑似自闭症谱系障碍的儿童提供评估。在当地注册医生转诊后,通过诊所或家访为 100 多名疑似遗传疾病的患者进行了咨询。在可能的情况下,尝试了随访。在有条件且合适的情况下,将临床样本运送到合作实验室进行分子分析。实验室测试包括核型分析、细胞基因组微阵列分析、外显子组测序、三核苷酸重复扩增测试、血液氨基酸水平测定、生化分析和代谢组学分析。我们认为,即使资源有限,遗传学专业人员也可以为医疗保健做出重大贡献。来访的遗传学家可以通过提供继续教育研讨会来提供帮助。临床教学查房有助于让当地医生了解遗传疾病的管理,目的是提高对遗传疾病的认识。即使只是定期提供服务,来访的遗传学家也可能使受影响的个人及其家属、当地医生和整个社区受益。

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