Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Verberne, Eline A; Westermann, Jonne M; de Vries, Tamar I; Ecury-Goossen, Ginette M; Lo-A-Njoe, Shirley M; Manshande, Meindert E; Faries, Sonja; Veenhuis, Hans D; Philippi, Patricia; Falix, Farah A; Rosina-Angelista, Irsa; Ponson-Wever, Maria; Rafael-Croes, Louise; Thorsen, Patricia; Arends, Eric; de Vroomen, Maartje; Nagelkerke, Sietse Q; Tilanus, Martijn; van der Veken, Lars T; Huijsdens-van Amsterdam, Karin; van der Kevie-Kersemaekers, Anne-Marie; Alders, Mariëlle; Mannens, Marcel M A M; van Haelst, Mieke M
(2022) American Journal of Medical Genetics. Part A, volume 188, issue 6, pp. 1777 - 1791
(Article)
Abstract
Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi-annual joint pediatric-genetics clinic with a visiting clinical geneticist in the Dutch Caribbean. This retrospective study evaluates the yield of diagnostic testing and the clinical utility of a diagnosis for patients with rare diseases on these
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relatively isolated, resource-limited islands. A total of 331 patients that were referred to the clinical geneticist between November 2011 and November 2019 and had genetic testing were included in this study. A total of 508 genetic tests were performed on these patients. Microarray, next-generation sequencing gene panels, and single-gene analyses were the most frequently performed genetic tests. A molecularly confirmed diagnosis was established in 33% of patients (n = 108). Most diagnosed patients had single nucleotide variants or small insertions and/or deletions (48%) or copy number variants (34%). Molecular diagnostic yield was highest in patients referred for seizures and developmental delay/intellectual disability. The genetic diagnosis had an impact on clinical management in 52% of patients. Referrals to other health professionals and changes in therapy were the most frequently reported clinical consequences. In conclusion, despite limited financial resources, our genetics service resulted in a reasonably high molecular diagnostic yield. Even in this resource-limited setting, a genetic diagnosis had an impact on clinical management for the majority of patients. Our approach with a visiting clinical geneticist may be an example for others who are developing genetic services in similar settings.
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Keywords: Caribbean Region/epidemiology, Child, DNA Copy Number Variations, Genetic Testing/methods, Humans, Intellectual Disability/genetics, Retrospective Studies, caribbean, clinical genetics, clinical utility, diagnostic yield, rare diseases, Genetics(clinical), Genetics, Journal Article
ISSN: 1552-4825
Publisher: Wiley-Liss Inc.
Note: Publisher Copyright: © 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
(Peer reviewed)