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

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 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 pe... 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
Reihe/Periodikum: American Journal of Medical Genetics Part A ; volume 188, issue 6, page 1777-1791 ; ISSN 1552-4825 1552-4833
Verlag/Hrsg.: Wiley
Schlagwörter: Genetics (clinical) / Genetics
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-26690258
Datenquelle: BASE; Originalkatalog
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Link(s) : http://dx.doi.org/10.1002/ajmg.a.62708