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

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.

Clinical and community genetics services in the Dutch Caribbean

“…In line with a recent report on a medical genetics service on other Caribbean islands (Sobering et al 2020), our experience is that, even when resources are limited, a program with a visiting clinical geneticist contributes significantly to healthcare in under-served communities. To formally study this, a PhD project by a clinical researcher (EV) is currently ongoing.…”

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

“…Over the past few years, several other efforts have been made to improve access to genetic services in the Caribbean. Recently, Sobering et al (2020) described their experiences with offering genetic services with a visiting clinical geneticist on several resource‐limited Caribbean islands. They present the results of genetic testing in more than 100 individuals with suspected genetic disorders and report a diagnostic yield of exome sequencing of ~50%.…”

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

“…An Afro‐Caribbean female presented at 14 years old at a pro bono medical genetics outreach clinic. The affected individual and her family reside on a small geographically‐isolated island that lacks most medical services (Sobering et al, 2020). Most of her early records, including brain imaging, were lost in a natural disaster that destroyed the infrastructure of the island.…”