Back to Search Start Over

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

Authors :
Ghayda M. Mirzaa
Stefan M. Pulst
John C. Carey
Sarah H. Elsea
Dong Li
Flora Tassone
Tyhiesia Donald
Andrew K. Sobering
Andre Hamlet
Karla P. Figueroa
Katherine Yearwood
Beverly Nelson
Jennifer S. Beighley
Elizabeth J. Bhoj
Jennifer Gerdts
Helga V. Toriello
Janice L. Smith
Ruth H. Walker
Source :
Am J Med Genet C Semin Med Genet, American journal of medical genetics. Part C, Seminars in medical genetics, vol 184, iss 4
Publication Year :
2020
Publisher :
Wiley, 2020.

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.

Details

ISSN :
15524876 and 15524868
Volume :
184
Database :
OpenAIRE
Journal :
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Accession number :
edsair.doi.dedup.....f48922d9a65bbdb6045505a4c30370c3