Predictive testing for Huntington disease in a developing country
Predictive testing for Huntington disease in a developing country
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DOI：
10.1111/j.1399-0004.2008.01044.x
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发表时间：
2009-01-01
影响因子：
3.5
通讯作者：
Greenberg, L. J.
中科院分区：
文献类型：
--
作者：
Futter, M. J.;Heckmann, J. M.;Greenberg, L. J.
从1995年起，开普敦大学人类遗传学系通过直接突变分析提供了亨廷顿病（HD）的预测性检测。这项研究的目的是汇编一个全面的配置文件的参与者谁经历了预测测试在西开普省1995年至2005年。分析了社会人口学数据，测试的吸收和结果，以告知改变，以改善目前的遗传咨询服务。采用回顾性横断面设计，采用定性和定量方法的“多方法”方法。数据来自参与者的医院档案和遗传数据库。社会心理数据是通过与参与者在他们的家中或选择的场所进行面对面的访谈获得的。共进行了36次预测性试验。预测性检测的使用率约为估计风险人群的4.5%。27人的队列包括16名女性和11名男性。他们的平均年龄为35.3岁; 6人是混合血统，21人是白色人（欧洲血统）; 11人检测基因阳性，15人基因阴性，1人在减少的染色体畸变范围内。确定的最重要的问题是，被归类为混合血统的个体的吸收率大大低于白色人，这可能是由于HD家庭的一般人群的收入和教育水平低，导致预测性测试计划的获得有限。解决这些问题的战略已纳入方案，并将在一年后重新评估。
Predictive testing for Huntington disease (HD), by means of direct mutation analysis, has been offered at the Division of Human Genetics, University of Cape Town, from 1995. The aim of this study was to compile a comprehensive profile of the participants who had undergone predictive testing in the Western Cape from 1995 to 2005. The sociodemographic data, uptake and outcome of tests were analyzed to inform changes to improve the current genetic counseling services. A retrospective cross-sectional design using a 'multi-method' approach of both qualitative and quantitative methods was used. Data were gathered from the participants' hospital files and genetic database. Psychosocial data were obtained by face-to-face interviews with the participants in their homes or venues of choice. A total of 36 predictive tests were performed. The uptake for predictive testing was approximately 4.5% of the estimated at-risk population. The cohort of 27 individuals comprised 16 females and 11 males. Their mean age was 35.3 years; 6 were mixed ancestry and 21 were White people (European ancestry); 11 tested gene positive, 15 gene negative and 1 was in the reduced penetrance range. The most important issue identified was that the uptake of individuals classified as mixed ancestry was substantially lower than that of the White people possibly due to limited access to the predictive testing program because of the low levels of income and education in the general population of families with HD. Strategies to address these aspects have been incorporated into the program and will be reassessed after 1 year.