当前位置: X-MOL 学术Am. J. Med. Genet. Semin. Med. Genet. Part C › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community
American Journal of Medical Genetics Seminars in Medical Genetics, Part C ( IF 2.8 ) Pub Date : 2020-12-04 , DOI: 10.1002/ajmg.c.31871
Andrew K Sobering 1, 2 , Dong Li 3 , Jennifer S Beighley 4 , John C Carey 5 , Tyhiesia Donald 6, 7 , Sarah H Elsea 8 , Karla P Figueroa 9 , Jennifer Gerdts 4 , Andre Hamlet 6, 7 , Ghayda M Mirzaa 10, 11, 12 , Beverly Nelson 7 , Stefan M Pulst 9 , Janice L Smith 8 , Flora Tassone 13, 14 , Helga V Toriello 15 , Ruth H Walker 16, 17 , Katherine R Yearwood 18 , Elizabeth J Bhoj 3
Affiliation  

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.

中文翻译:

在西印度群岛提供无偿医学遗传学服务的经验:对患者、医生和社区的好处

我们描述了我们在西印度群岛的几个不同资源有限岛屿上组织无偿医学遗传学和神经病学外展计划的经验。由于地理隔离、人口规模小和社会经济差异,大多数加勒比岛屿缺乏管理、诊断和咨询遗传病患者的医疗服务。从 2015 年到 2019 年,我们每年在加勒比海的各个岛屿上组织 2-3 个诊所。我们还组织了一个为期一周的诊所,为疑似患有自闭症谱系障碍的儿童提供评估。在当地注册医生转诊后,在诊所或家访期间为 100 多名疑似遗传病患者进行了咨询。在可能的情况下,尝试进行随访。在可用且适当的情况下,临床样本被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、三重重复扩增测试、血液氨基酸水平测定、生化分析和代谢组学分析。我们相信,即使可用性有限,遗传学专业人员也可以对医疗保健做出重大贡献。访问遗传学家可以通过提供继续医学教育研讨会来提供帮助。临床教学轮次有助于向当地医生介绍遗传疾病的管理,目的是提高对遗传病的认识。即使只是定期提供,来访的遗传学家也可能使受影响的个人、他们的家人、当地医生和整个社区受益。
更新日期:2020-12-30
down
wechat
bug