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首页> 外文期刊>Genetic testing and molecular biomarkers >The Utilization and Outcome of Diagnostic, Predictive, and Prenatal Genetic Testing for Huntington Disease in Johannesburg, South Africa
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The Utilization and Outcome of Diagnostic, Predictive, and Prenatal Genetic Testing for Huntington Disease in Johannesburg, South Africa

机译：诊断的利用率和结果,预测,产前基因检测亨廷顿疾病在约翰内斯堡,南非

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Background: Huntington disease (HD) is an autosomal dominant neurodegenerative disorder for which genetic counseling and testing are available in South Africa. Objective: The purpose of this study was to assess the utilization of the services available in Johannesburg for diagnostic, predictive, and prenatal genetic testing and counseling for HD and the characteristics of the patients who use them. Subjects and Methods: A retrospective study was conducted using records of patients (n = 287) who had genetic counseling and/or testing for HD through the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, between January 1998 and December 2006. Age, gender, number of children, ethnicity, and test results were analyzed. Results: Of the 287 patients included in this study, 77% had diagnostic testing, 20% predictive, and 3% prenatal testing. In the diagnostic group, 47% of subjects tested positive for HD1 and 9% for HDL2 (all Black or of mixed ancestry). Altogether, 66.7% of subjects in the predictive group had testing and 39.5% were positive. In both groups, White subjects were overrepresented. In seven prenatal tests, three fetuses (including a set of twins) tested positive for HD and termination of pregnancy was requested. Discussion and Conclusion: The HD services for predictive and prenatal testing appear to be underutilized, especially by Black individuals, possibly because of lack of awareness among these individuals and among healthcare providers and/or a lower HD prevalence in this group. Recognition of and testing for HDL2 is important in South Africa’s large Black population, and HD testing services cannot be considered complete unless testing for both HD1 and HDL2 are undertaken.
机译：背景:亨廷顿病(HD)是一个常染色体显性遗传神经退行性疾病遗传咨询和测试吗在南非。本研究旨在评估的利用率可用在约翰内斯堡的服务诊断、预测和产前基因为HD和检测和咨询患者使用它们的特性。对象和方法:回顾性研究进行了使用记录的患者(n = 287)遗传咨询和/或测试高清通过人类遗传学的部门,国家卫生实验室服务和大学1998年1月至约翰内斯堡的威特沃特斯兰德2006年12月。孩子,种族,和测试结果分析。在这项研究中,有77%的诊断测试,20%预测,3%产前测试。诊断组,47%的受试者阳性,即为9%,HDL2(全黑或混合血统)。预测组测试和39.5%的人积极的。过多了。胎儿(包括一组双胞胎)测试阳性HD和终止妊娠要求。预测服务和产前测试似乎没有被充分利用,特别是黑色的个人,可能因为缺乏在这些个人和之间的意识卫生保健提供者和/或高清患病率较低在这一组。在南非的黑色大HDL2是重要的人口,不能和高清测试服务即视为完成,除非测试和HDL2正在进行。

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