Misinformation and distrust often prevent individuals from minority communities to seek adequate healthcare, including genetic services. Immigrants appear to be further burdened by factors that negatively impact their health outcomes and little is known about their experience with genetic services. We sought to identify attitudes and perception of genetic services in one immigrant group, the Somali community of Minnesota and to establish a culturally informed framework for caring for members. A qualitative study comprised of 11 semi-structured key informant interviews was conducted and analyzed using a thematic approach. Main themes emerged from the analysis fell within one of four major topics: (a) Somali views and perspective on genetics and healthcare, (b) barriers to uptake of genetic services, (c) facilitators to uptake of genetic services, and (d) perspective on genetic service delivery subtypes. Somali views and perspective on genetics are often framed by religious and cultural values. These values, at times, conflicted with those common in the American healthcare system. Supports for different genetic service delivery subtypes also varied, ranging from little to no support in prenatal screening to generally positive support for pharmacogenetic testing. Future studies should prioritize topics with support and ways to better provide genetic counseling services within the Somali community.
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http://dx.doi.org/10.1002/jgc4.1131 | DOI Listing |
Cureus
December 2024
Optics and Optometry Division, Investigative Techniques in Optometry Research Group, Department of Biomedical Sciences, University of West Attica, Athens, GRC.
Diabetic retinopathy (DR) is a leading cause of vision impairment and blindness globally, particularly among working-age adults. As the prevalence of diabetes continues to rise, understanding factors that influence DR development and progression is increasingly important. Recent studies suggest a protective association between a longer axial length (AL) of the eye and the risk of DR, particularly in myopic individuals.
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December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
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December 2024
Orthopedics and Traumatology, Ondokuz Mayis University, Samsun, TUR.
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling.
View Article and Find Full Text PDFNeurol Genet
February 2025
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Canada.
Background And Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes.
View Article and Find Full Text PDFBJPsych Bull
January 2025
Institute of Mental Health, School of Psychology, University of Birmingham, Birmingham, UK.
At-Risk Mental State (ARMS) services aim to prevent the onset of first-episode psychosis (FEP) in those with specific clinical or genetic risk markers. In England, ARMS services are currently expanding, but the accessibility of this preventative approach remains questionable, especially for a subgroup of FEP patients and those from specific ethnic minority communities. This commentary outlines the key debates about why a complimentary approach to psychosis prevention is necessary, and gives details for an innovative public health strategy, drawing on existing research and health prevention theory.
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