Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey

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dc.authoridKaya, Derya/0000-0002-0948-7201
dc.authoridTekin, Koray/0009-0003-4465-2027
dc.authoridSılan, Fatma/0000-0001-7191-2240
dc.authoridCelik, Kubra Muge/0000-0002-7784-8136
dc.contributor.authorCelik, Kubra Muge
dc.contributor.authorKose, Canan Ceylan
dc.contributor.authorKaya, Derya
dc.contributor.authorTekin, Koray
dc.contributor.authorSılan, Fatma
dc.date.accessioned2025-01-27T20:24:49Z
dc.date.available2025-01-27T20:24:49Z
dc.date.issued2024
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractSpinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressive muscle weakness. The carrier frequency of SMN1 gene variants, including variant and copy number variations, is estimated to be around 1 in 50 people, while the global prevalence of SMA is 1-3 per 10,000 live births. In response to the increasing carrier proportion, especially due to consanguineous marriages, Turkey launched the SMA Carrier Screening Program in 2021. Notably, recent SMA cases have been observed in the children of healthcare workers who did not undergo carrier screening, prompting us to evaluate their awareness of this program. After receiving ethics approval, 1,322 healthcare professionals completed a 15-item survey based on the SMA Carrier Screening Guidelines. Of these, 5.8% were unaware of SMA, and 26% lacked information about the national screening program. Awareness of the screening program was significantly lower among secondary and tertiary healthcare professionals compared to primary healthcare professionals (p < 0.0001) and among non-physician healthcare professionals compared to physicians (p < 0.0001). Additionally, a serious lack of knowledge was observed concerning the parts of the screening covering the pregnancy period. Although there is generally high awareness of the SMA Carrier Screening Program among healthcare professionals, significant knowledge gaps exist. These findings highlight the need for increased efforts to more effectively deliver screening programs and continue the education of healthcare professionals. Education and awareness campaigns can enhance program awareness and effectiveness, reach wider audiences, and contribute to preventive measures for the health of future generations.
dc.identifier.doi10.1007/s12687-024-00737-4
dc.identifier.endpage672
dc.identifier.issn1868-310X
dc.identifier.issn1868-6001
dc.identifier.issue6
dc.identifier.pmid39392569
dc.identifier.scopus2-s2.0-85206626924
dc.identifier.scopusqualityQ2
dc.identifier.startpage665
dc.identifier.urihttps://doi.org/10.1007/s12687-024-00737-4
dc.identifier.urihttps://hdl.handle.net/20.500.12428/22358
dc.identifier.volume15
dc.identifier.wosWOS:001335873000002
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer Heidelberg
dc.relation.ispartofJournal of Community Genetics
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectSMA
dc.subjectNational carrier screening program
dc.titleSpinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey
dc.typeArticle

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