Atri Barzanjeh Shirin, Behshid Mozhgan, Hosseini Mohammad Bagher, Ezari Maryam, Taghizadeh Mahdieh, Dastgiri Saeed
School of Nursing and Midwifery, Tabriz University of Medical Sciences, Tabriz 5166615739, Iran.
Genet Res Int. 2012;2012:129575. doi: 10.1155/2012/129575. Epub 2012 Dec 5.
The aim of the study was to report a description of the primary, secondary, and tertiary level services available for genetic disorders in Iran. For the purpose of this study, essential data were collected from every facility providing community genetic services in Tabriz city of Iran using a prestructured checklist. Technical information was filled in the predesigned forms using diagnostic records of each client/patient. Information was also gathered from community genetic services clients through a face-to-face interview at these facilities to assess the quality of services provided. Primary prevention measures were available in 80 percent of centres in the study population. Diagnostic techniques were fully available in the study area both in public and private sectors. Screening of congenital hypothyroidism and thalassemia has been successfully performed across the country by the Ministry of Health. Other screening programs have also been initiated by the country health authorities for neural tube defects, Down syndrome, and phenylketonuria. The high cost of genetic services at secondary and tertiary levels does not allow many people to get access to these services despite their needs. Governments will therefore need to allocate necessary resources to make the essential genetic services available for everyone needing these in the community.
该研究的目的是报告伊朗针对遗传疾病提供的一级、二级和三级服务的情况。为了本研究，使用预先构建的清单从伊朗大不里士市提供社区遗传服务的每个机构收集了基本数据。利用每个客户/患者的诊断记录，将技术信息填写在预先设计的表格中。还通过在这些机构与社区遗传服务客户进行面对面访谈来收集信息，以评估所提供服务的质量。在研究人群中，80%的中心提供一级预防措施。诊断技术在研究区域的公共和私营部门均已全面具备。卫生部已在全国成功开展了先天性甲状腺功能减退症和地中海贫血的筛查。国家卫生当局也已启动了针对神经管缺陷、唐氏综合征和苯丙酮尿症的其他筛查项目。尽管有需求，但二级和三级遗传服务的高昂费用使许多人无法获得这些服务。因此，政府需要分配必要资源，以使社区中每个需要基本遗传服务的人都能获得这些服务。
