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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 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.

SUBMITTER: Verberne EA

PROVIDER: S-EPMC9314971 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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

Verberne Eline A EA Westermann Jonne M JM de Vries Tamar I TI Ecury-Goossen Ginette M GM Lo-A-Njoe Shirley M SM Manshande Meindert E ME Faries Sonja S Veenhuis Hans D HD Philippi Patricia P Falix Farah A FA Rosina-Angelista Irsa I Ponson-Wever Maria M Rafael-Croes Louise L Thorsen Patricia P Arends Eric E de Vroomen Maartje M Nagelkerke Sietse Q SQ Tilanus Martijn M van der Veken Lars T LT Huijsdens-van Amsterdam Karin K van der Kevie-Kersemaekers Anne-Marie AM Alders Mariëlle M Mannens Marcel M A M MMAM van Haelst Mieke M MM

American journal of medical genetics. Part A 20220307 6

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 201 ...[more]

PMID: 35253369

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Project description:Background Small island developing states (SIDS) have limited absolute resources for responding to national disasters, including health emergencies. Since the first confirmed case of COVID-19 in the Caribbean on 1st March 2020, non-pharmaceutical interventions (NPIs) have been widely used to control the resulting COVID-19 outbreak. We document the variety of government measures introduced across the Caribbean and explore their impact on aspects of outbreak control. Methods Drawing on publically available information, we present confirmed cases and confirmed deaths to describe the extent of the Caribbean outbreak. We document the range of outbreak containment measures implemented by national Governments, focussing on measures to control movement and gatherings. We explore the temporal association of containment measures with the start of the outbreak in each country, and with aggregated information on human movement, using smartphone positioning data. We include a set of comparator countries to provide an international context. Results As of 25th May, the Caribbean reported 18,755 confirmed cases and 631 deaths. There have been broad similarities but also variation in the number, the type, the intensity, and particularly the timing of the NPIs introduced across the Caribbean. On average, Caribbean governments began controlling movement into countries 27 days before their first confirmed case and 23 days before comparator countries. Controls on movement within country were introduced 9 days after the first case and 36 days before comparators. Controls on gatherings were implemented 1 day before the first confirmed case and 30 days before comparators. Confirmed case growth rates and numbers of deaths have remained low across much the Caribbean. Stringent Caribbean curfews and stay-at-home orders coincided with large reductions in community mobility, regularly above 60%, and higher than most international comparator countries. Conclusion Stringent controls to limit movement, and specifically the early timing of those controls has had an important impact on containing the spread of COVID-19 across much of the Caribbean. Very early controls to limit movement into countries may well be particularly effective for small island developing states. With much of the region economically reliant on international tourism, and with steps to open borders now being implemented, it is critical that the region draws on a solid evidence-base to balance the competing demands of economic wellbeing and public health.

Project description:BackgroundSmall island developing states (SIDS) have particular mental health system needs due to their remoteness and narrow resource base. We conducted situational analyses to support mental health system strengthening in six SIDS: Anguilla, Bermuda, British Virgin Islands, Cayman Islands, Montserrat and Turks and Caicos Islands.MethodsThe situational analyses covered five domains: 1. Socio-economic context and burden of mental disorders, 2. Leadership and governance for mental health 3. Mental health and social care services 4. Strategies for promotion and prevention in mental health and 5. Information systems, evidence and research for mental health. First, a desk-based exercise was conducted, in which data was drawn from the public domain. Second, a field visit was conducted at each site, comprising visits to facilities and consultation meetings with key stakeholders.ResultsOur key findings were 1. Despite most of these SIDS being high-income economies, social inequalities within states exist. There was no population-level data on mental health burden. 2. All SIDS have a mental health policy or plan, but implementation is typically limited due to lack of funds or staff shortages. There was minimal evidence of service user involvement in policy or service development. 3. All SIDS have a specialist, multi-disciplinary mental health workforce, however Montserrat and Anguilla rely on visiting psychiatrists. Child and adolescent and dedicated crisis intervention services were found in only two and one SIDS respectively. A recovery-oriented ethos was not identified in any SIDS. 4. Mental illness stigma was prevalent in all SIDS. Promotion and prevention were objectives of mental health strategies for all SIDS, however activities tended to be sporadic. No mental health non-Governmental organisations were identified in three SIDS. 5. Health information systems are generally underdeveloped, with paper-based systems in three SIDS. There has been no rigorous local mental health research.ConclusionCross-cutting recommendations include: to develop mental health action plans that include clear implementation indicators; to facilitate community surveys to ascertain the prevalence of mental disorders; to explore task-sharing approaches to increase access to primary mental health care; and to develop programmes of mental health promotion and prevention.

Project description:Due to their geographical isolation and small populations, insular bats may not be able to maintain acute immunizing viruses that rely on a large population for viral maintenance. Instead, endemic transmission may rely on viruses establishing persistent infections within hosts or inducing only short-lived neutralizing immunity. Therefore, studies on insular populations are valuable for developing broader understanding of viral maintenance in bats. The Christmas Island flying-fox (CIFF; Pteropus natalis) is endemic on Christmas Island, a remote Australian territory, and is an ideal model species to understand viral maintenance in small, geographically isolated bat populations. Serum or plasma (n = 190), oral swabs (n = 199), faeces (n = 31), urine (n = 32) and urine swabs (n = 25) were collected from 228 CIFFs. Samples were tested using multiplex serological and molecular assays, and attempts at virus isolation to determine the presence of paramyxoviruses, betacoronaviruses and Australian bat lyssavirus. Analysis of serological data provides evidence that the species is maintaining a pararubulavirus and a betacoronavirus. There was little serological evidence supporting the presence of active circulation of the other viruses assessed in the present study. No viral nucleic acid was detected and no viruses were isolated. Age-seropositivity results support the hypothesis that geographically isolated bat populations can maintain some paramyxoviruses and coronaviruses. Further studies are required to elucidate infection dynamics and characterize viruses in the CIFF. Lastly, apparent absence of some pathogens could have implications for the conservation of the CIFF if a novel disease were introduced into the population through human carriage or an invasive species. Adopting increased biosecurity protocols for ships porting on Christmas Island and for researchers and bat carers working with flying-foxes are recommended to decrease the risk of pathogen introduction and contribute to the health and conservation of the species.

Dataset Information

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

Publications

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

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