{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:27Z","timestamp":1761101847864},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,1]]},"abstract":"<jats:p>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\u2010sectional design using a \u2018multi\u2010method\u2019 approach of both qualitative and quantitative methods was used. Data were gathered from the participants\u2019 hospital files and genetic database. Psychosocial data were obtained by face\u2010to\u2010face 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\u2010risk population. The cohort of 27 individuals comprised 16 females and 11 males. Their mean age was 35.3\u2003years; 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\u2003year.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01044.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:29:27Z","timestamp":1232706567000},"page":"92-97","source":"Crossref","is-referenced-by-count":12,"title":["Predictive testing for Huntington disease in a developing country"],"prefix":"10.1111","volume":"75","author":[{"given":"MJ","family":"Futter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JM","family":"Heckmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LJ","family":"Greenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,12,31]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"5677","volume-title":"Metabolic and molecular bases of inherited diseases","author":"Hayden M","year":"1995"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.56.1.98"},{"key":"e_1_2_6_4_2","first-page":"197","article-title":"Behavioural symptoms associated with Huntington\u2019s disease","volume":"96","author":"Anderson KE","year":"2005","journal-title":"Adv Neurol"},{"key":"e_1_2_6_5_2","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington\u2019s disease chromosomes","volume":"72","author":"The Huntington\u2019s Disease Collaborative Research Group (HDCRG)","year":"1993","journal-title":"Cell"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0738-3991(98)00086-X"},{"key":"e_1_2_6_7_2","volume-title":"People of the Western Cape","author":"Bank A","year":"2003"},{"key":"e_1_2_6_8_2","volume-title":"Not white enough, not black enough","author":"Adhikari M","year":"2005"},{"key":"e_1_2_6_9_2","volume-title":"Urban community development in South Africa (1980)","author":"MacCrone ID","year":"1957"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110204"},{"issue":"58","key":"e_1_2_6_11_2","first-page":"193","article-title":"The prevalence of Huntington\u2019s chorea in South Africa","volume":"2","author":"Hayden MR","year":"1980","journal-title":"S Afr Med J"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.567"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)90722-8"},{"key":"e_1_2_6_14_2","doi-asserted-by":"crossref","unstructured":"TaylorSD.Predictive genetic testing decisions for Huntington\u2019s disease: context appraisal and new moral imperatives.Soc Sci Med2004:58:137\u2013149.","DOI":"10.1016\/S0277-9536(03)00155-2"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320215"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00093.x"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00701.x"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000245633.97952.f1"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00770.x"},{"issue":"1","key":"e_1_2_6_20_2","first-page":"A98","article-title":"Neuropsychiatric characteristics of patients attending a Huntington\u2019s disease predictive testing service: the first 10 years: 110","volume":"39","author":"Velakoulis D","year":"2005","journal-title":"Aust N Z J Psychiatry"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(03)00317-X"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200781"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.12.915"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200913"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1602\/neurorx.1.2.255"},{"key":"e_1_2_6_26_2","volume-title":"Statistics South Africa Central Statistical Services. 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