TY - JOUR
T1 - Experiences with offering pro bono medical genetics services in the West Indies
T2 - Benefits to patients, physicians, and the community
AU - Sobering, Andrew K.
AU - Li, Dong
AU - Beighley, Jennifer S.
AU - Carey, John C.
AU - Donald, Tyhiesia
AU - Elsea, Sarah H.
AU - Figueroa, Karla P.
AU - Gerdts, Jennifer
AU - Hamlet, Andre
AU - Mirzaa, Ghayda M.
AU - Nelson, Beverly
AU - Pulst, Stefan M.
AU - Smith, Janice L.
AU - Tassone, Flora
AU - Toriello, Helga V.
AU - Walker, Ruth H.
AU - Yearwood, Katherine R.
AU - Bhoj, Elizabeth J.
N1 - Funding Information:
F.T. has received funding from the Azrieli Foundation, Zynerba Inc., and Asuragen Inc. for studies of Fragile X syndrome. R.H.W. has received honoraria from the International Parkinson Disease and Movement Disorders Society, the International Association of Parkinsonism and Related Disorders, and consulting fees from Neurocrine Biosciences, Inc., and Teladoc Health, Inc. All other authors have no conflict of interest to declare.
Funding Information:
Brotman Baty Institute; Jordan's Guardian Angels; National Institute of Neurological Disorders and Stroke, Grant/Award Number: K08NS092898; St. George's University Small Research Grant Initiative Funding information
Publisher Copyright:
© 2020 Wiley Periodicals LLC
PY - 2020/12
Y1 - 2020/12
N2 - 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.
AB - 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.
KW - Caribbean
KW - clinical genetic testing
KW - West Indies
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U2 - 10.1002/ajmg.c.31871
DO - 10.1002/ajmg.c.31871
M3 - Article
C2 - 33274544
AN - SCOPUS:85097004938
VL - 184
SP - 1030
EP - 1041
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -