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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community
- 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.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Referral
Autism Spectrum Disorder
West Indies
Clinical Sciences
Population
clinical genetic testing
030105 genetics & heredity
Article
03 medical and health sciences
Continuing medical education
Clinical Research
Physicians
Health care
Genetics
medicine
Humans
Child
education
Referral and Consultation
Socioeconomic status
Genetics (clinical)
Caribbean
Genetics & Heredity
education.field_of_study
business.industry
Prevention
Geneticist
Health Services
Brain Disorders
Outreach
030104 developmental biology
Family medicine
Medical genetics
business
Delivery of Health Care
Subjects
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