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

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 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 o... Mehr ...

Verfasser: 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
Dokumenttyp: Artikel
Erscheinungsdatum: 2022
Schlagwörter: 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
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-27457763
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://dspace.library.uu.nl/handle/1874/445965

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 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.