Because there was no genetic testing service in Cameroon, we assessed the acceptance, perceived benefits and barriers and willingness to pay for genetic cancer screening in Cameroon amongst patients with cancers. We carried out a hospital-based, cross-sectional study on adult cancer patients at the Yaoundé General Hospital and the non-Governmental Organisation Solidarity Chemotherapy between February 1, 2021, and December 31, 2021. This was a convenience sampling that included all consenting patients. Qualitative and quantitative data were analysed by Epi info version 7 and SPSS version 20. Our study included 160 (87.5% females) cancer patients, whose ages ranged from 20 to 82 years, with a mean of 49.9 ± 13.0 years. Only 11.9% had undergone some form of genetic counselling or information sessions, and most found this to be helpful in terms of increased knowledge and prevention strategies (13, 68.4%). Almost all participants (156, 97.5%) stated they will like their relatives to undergo genetic counselling. Of these, 151 (94.4%) expressed their desire for their relatives to discuss their cancer risk with a specialist. Perceived benefits of genetic testing included cancer prevention (108, 67.5%) and motivation of self-examination (81, 50.6%). Prominent possible barriers included the cost (129, 80.6%), unavailability of equipment (49, 30.6%) and anticipated anxiety (40, 25.0%). However, a majority of the participants (156, 97.5%) were willing to test for genetic mutations. One hundred and thirty-five (84.4%) participants were willing to pay for genetic testing, with the majority of them (71.8%) ready to pay between $16.7 and $100. Almost all of the participants expressed their willingness to receive cancer genetic counselling and testing but the cost became the main barrier. This pilot study will serve as a guide to the processes of establishing a cancer risk assessment clinic in Cameroon.
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http://dx.doi.org/10.3332/ecancer.2023.1588 | DOI Listing |
BMJ Case Rep
January 2025
Department of Periodontology, King George's Medical University, Lucknow, Uttar Pradesh, India.
Amelogenesis imperfecta (AI) is a genetic disorder that affects both primary and permanent teeth. It primarily manifests as developmental disorders of enamel. The condition occurs independently of other systemic disorders and is caused by mutations in genes responsible for enamel formation, inherited in autosomal dominant, autosomal recessive or X-linked patterns.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Endocrinology Department, Sri Ramachandra Institute of Higher Education and Research, Chennai, India
TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term neonatal presenting with prolonged unconjugated hyperbilirubinaemia.
View Article and Find Full Text PDFMol Cell Probes
January 2025
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Osteopetrosis is a group of genetically and clinically diverse inherited disorders characterized by an increase in bone density. The main known cause is an abnormality in the development or function of osteoclasts. Hence, the process of bone resorption is impaired, resulting in: 1- a reduction in bone marrow volume and, subsequently, a decrement in the hematopoietic capacity of bone marrow, which leads to anemia and compromised immunological function; 2- improper bone development, which leads to pressure on peripheral nerves, causing auditory, visual, and movement impairments; and 3- disturbance in the formation of bone microstructure that leads to susceptibility to bone fracture.
View Article and Find Full Text PDFClin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFIntroduction: The most frequent form of diabetes in pediatric patients is polygenic autoimmune diabetes (T1D), but single-gene variants responsible for autoimmune diabetes have also been described. Both disorders share clinical features, which can lead to monogenic forms being misdiagnosed as T1D. However, correct diagnosis is crucial for therapeutic choice, prognosis and genetic counseling.
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