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dc.contributor.authorFidan, Caglar
dc.contributor.authorAkdur, Recep
dc.contributor.authorUnver, Cigdem Naz
dc.contributor.authorSahin, Omer Can
dc.contributor.authorAlper, Asli Begum
dc.contributor.authorAyhan, Ali
dc.date.accessioned2024-05-24T11:49:52Z
dc.date.available2024-05-24T11:49:52Z
dc.date.issued2023
dc.identifier.issn2186-3644en_US
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468408/pdf/irdr-12-161.pdf
dc.identifier.urihttp://hdl.handle.net/11727/12143
dc.description.abstractEffective control of rare diseases requires health programs based on principles of protection and prevention. Carrier screening programs serve as preventive measures by identifying at -risk groups. This review examines the impact, implementation, advantages, and disadvantages of carrier screening, incorporating examples from ten countries: the United States, Canada, the United Kingdom, Israel, China, Australia, Italy, Germany, the Netherlands, and Turkey. Data on carrier screening and related policies were collected from July to November 2022 and presented in a tabular format using a coding system devised by the authors. Variability was observed in the diseases/disorders and populations screened, screening expenses, and government provision across the countries. The number of diseases/disorders examined, ranging from 3 to 47, was determined by committee guidelines, government resources, pilot studies, and national institute resources. Notably, carrier screening programs exhibited greater worldwide inconsistency compared to newborn screening programs. The comparative analysis of developed countries serves to guide emerging nations. To address inequalities at both local and global levels, there is a need to enhance the establishment, development, and implementation of carrier screening programs. Furthermore, cost analyses of screening should be conducted, and adequate funding should be allocated to countries. In conclusion, this review highlights the preventive potential of carrier screening for rare diseases and emphasizes the importance of improving carrier screening programs globally to achieve equitable healthcare outcomes.en_US
dc.language.isoengen_US
dc.relation.isversionof10.5582/irdr.2023.01005en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectrare disease preventionen_US
dc.subjectcarrier screeningen_US
dc.subjectpreconception carrier screeningen_US
dc.subjectpremarital screeningen_US
dc.subjectearly diagnosis screeningen_US
dc.titleCarrier Screening Programs for Rare Diseases in Developed Countries and the Case of Turkey: A Systematic Reviewen_US
dc.typearticleen_US
dc.relation.journalINTRACTABLE & RARE DISEASES RESEARCHen_US
dc.identifier.volume12en_US
dc.identifier.issue3en_US
dc.identifier.startpage161en_US
dc.identifier.endpage169en_US
dc.identifier.wos001093510100004en_US
dc.identifier.scopus2-s2.0-85174167380en_US
dc.identifier.eissn2186-361Xen_US
dc.contributor.pubmedID37662625en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergien_US


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