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

Autor: Eline A. Verberne, Jonne M. Westermann, Tamar I. Vries, Ginette M. Ecury‐Goossen, Shirley M. Lo‐A‐Njoe, Meindert E. Manshande, Sonja Faries, Hans D. Veenhuis, Patricia Philippi, Farah A. Falix, Irsa Rosina‐Angelista, Maria Ponson‐Wever, Louise Rafael‐Croes, Patricia Thorsen, Eric Arends, Maartje Vroomen, Sietse Q. Nagelkerke, Martijn Tilanus, Lars T. Veken, Karin Huijsdens‐van Amsterdam, Anne‐Marie Kevie‐Kersemaekers, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. Haelst
Přispěvatelé: Human genetics, Pediatric surgery, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Graduate School, Human Genetics, Neonatology, Paediatric Infectious Diseases / Rheumatology / Immunology, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development
Rok vydání: 2022
Předmět:
Zdroj: American Journal of Medical Genetics Part A, 188(6), 1777-1791. Wiley-Liss Inc.
American journal of medical genetics. Part A, 188(6), 1777-1791. Wiley-Liss Inc.
Verberne, E A, Westermann, J M, de Vries, T I, Ecury-Goossen, G M, Lo-A-Njoe, S M, Manshande, M E, Faries, S, Veenhuis, H D, Philippi, P, Falix, F A, Rosina-Angelista, I, Ponson-Wever, M, Rafael-Croes, L, Thorsen, P, Arends, E, de Vroomen, M, Nagelkerke, S Q, Tilanus, M, van der Veken, L T, Huijsdens-van Amsterdam, K, van der Kevie-Kersemaekers, A-M, Alders, M, Mannens, M M A M & van Haelst, M M 2022, ' Genetic care in geographically isolated small island communities : 8 years of experience in the Dutch Caribbean ', American Journal of Medical Genetics Part A, vol. 188, no. 6, pp. 1777-1791 . https://doi.org/10.1002/ajmg.a.62708
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.62708
Popis: 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.
Databáze: OpenAIRE
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