{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T14:39:59Z","timestamp":1788878399717,"version":"build-2803163510"},"reference-count":57,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2012,6,19]],"date-time":"2012-06-19T00:00:00Z","timestamp":1340064000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2012,6,19]],"date-time":"2012-06-19T00:00:00Z","timestamp":1340064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Community Genet"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1007\/s12687-012-0101-5","type":"journal-article","created":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T15:41:39Z","timestamp":1340034099000},"page":"413-423","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Genetic services and testing in South Africa"],"prefix":"10.1007","volume":"4","author":[{"given":"Jennifer G. R.","family":"Kromberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine B.","family":"Sizer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold L.","family":"Christianson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,6,19]]},"reference":[{"key":"101_CR1","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1002\/(SICI)1096-8628(19961028)65:3<177::AID-AJMG1>3.0.CO;2-N","volume":"65","author":"RC Baumiller","year":"1996","unstructured":"Baumiller RC, Cunningham G, Fisher N, Fox L, Henderson R, Lebel R, McGrath G, Pelias MZ, Porter I, Seydel F, Wilson NR (1996) Code of ethical principles for genetics professionals. Am J Med Genet 65:177\u2013183","journal-title":"Am J Med Genet"},{"key":"101_CR2","first-page":"247","volume":"69","author":"P Beighton","year":"1986","unstructured":"Beighton P, Botha MC (1986) Inherited disorders in the black population of southern Africa. S Afr Med J 69:247\u2013249, 293\u2013296, 375\u2013378","journal-title":"S Afr Med J"},{"key":"101_CR3","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1056\/NEJMhpr033471","volume":"351","author":"S Benatar","year":"2004","unstructured":"Benatar S (2004) Health care reform and the crisis of HIV and AIDS in South Africa. New Engl J Med 351:81\u201392","journal-title":"New Engl J Med"},{"key":"101_CR4","unstructured":"Choice on Termination of Pregnancy Act 92 of 1996"},{"key":"101_CR5","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1016\/S0140-6736(09)61123-5","volume":"374","author":"M Chopra","year":"2009","unstructured":"Chopra M, Daviaud E, Pattinson R, Fonn S, Lawn JE (2009) Health in South Africa. Part Two: saving the lives of South Africa\u2019s mothers, babies, and children: can the health system deliver? Lancet 374:835\u2013846","journal-title":"Lancet"},{"key":"101_CR6","volume-title":"March of dimes global report on birth defects","author":"A Christianson","year":"2006","unstructured":"Christianson A, Howson CP, Modell B (2006) March of dimes global report on birth defects. March of Dimes Birth Defects Foundation, New York"},{"key":"101_CR7","unstructured":"Constitution of the Republic of South Africa Act 108 of 1996"},{"key":"101_CR8","unstructured":"Convention on Human Rights and Biomedicine of the Council of Europe (1997)"},{"key":"101_CR9","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1016\/S0140-6736(09)60951-X","volume":"374","author":"H Coovadia","year":"2009","unstructured":"Coovadia H, Jewkes R, Barron P, Sanders D, McIntyre D (2009) Health in South Africa, Part One: the health and health systems of South Africa: historical roots of current public health challenges. Lancet 374:817\u2013834","journal-title":"Lancet"},{"key":"101_CR10","volume-title":"Guidelines on ethics for medical research: reproductive biology and genetic research","author":"MR Council","year":"2002","unstructured":"Council MR, Africa S (2002) Guidelines on ethics for medical research: reproductive biology and genetic research. MRC, Tygerberg"},{"key":"101_CR11","first-page":"18","volume":"20","author":"R Delport","year":"2009","unstructured":"Delport R (2009) Familial hypercholesterolaemia in South Africans: tracking findings and developments over time\u2014with reference to: prevalence of hypercholesterolaemia in young Afrikaners with myocardial infarction. Ischaemic heart disease risk factors. Cardiovasc J Afr 20:18\u201322","journal-title":"Cardiovasc J Afr"},{"key":"101_CR12","unstructured":"Department of Health, South Africa (2007) Diagnostic Genetic Tests. Available at www.doh.gov.za\/docs\/index.html"},{"key":"101_CR13","volume-title":"Policy guidelines for the management and prevention of genetic disorders, birth defects and disabilities","author":"Department of Health, South Africa","year":"2001","unstructured":"Department of Health, South Africa (2001) Policy guidelines for the management and prevention of genetic disorders, birth defects and disabilities. Department of Health, Pretoria"},{"key":"101_CR14","unstructured":"Econex (2010) Financial Implications of a National Health Insurance Plan for South Africa. Available at www.econex.co.za\/"},{"key":"101_CR15","first-page":"418","volume":"87","author":"A Goldman","year":"1997","unstructured":"Goldman A, Krause A, Jenkins T (1997) Fragile X syndrome occurs in the South African black population. S Afr Med J 87:418\u2013420","journal-title":"S Afr Med J"},{"key":"101_CR16","unstructured":"Health Professionals Council of South Africa (2009) Statistics. Available at http:\/\/www.hpcsa.co.za\/statistics.og.2009"},{"key":"101_CR17","unstructured":"Health Professionals Council of South Africa (2010) Professional boards. Medical technology. Available at http:\/\/www.hpcsa.co.za\/board_medtech_education.php"},{"key":"101_CR18","unstructured":"Health Systems Trust (2008) South African Health Report 2008. Available at http:\/\/www.hst.org.za\/generic\/29"},{"key":"101_CR19","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1097\/01.md.0000152454.56435.f3","volume":"84","author":"RJ Hift","year":"2005","unstructured":"Hift RJ, Meissner PN (2005) An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Med (Baltimore) 84:48\u201360","journal-title":"Med (Baltimore)"},{"key":"101_CR20","doi-asserted-by":"publisher","first-page":"1609","DOI":"10.1016\/S0140-6736(10)60518-1","volume":"375","author":"MC Hogan","year":"2010","unstructured":"Hogan MC, Foreman KJ, Naghavi M, Ahn SY, Wang M, Makela SM, Lopez AD, Lozano R, Murray CJL (2010) Maternal mortality for 181 countries, 1980\u20132008: a systematic analysis of progress towards Millennium Development Goal 5. Lancet 375:1609\u20131623","journal-title":"Lancet"},{"key":"101_CR21","unstructured":"Howson CP, Christianson AL, Modell B (2008) Disease Control Priorities Project. Controlling Birth Defects: Reducing the Hidden Toll of Dying and Disabled Children in Low Income Countries. Available at http:\/\/www.dcp2.org\/file\/230\/dcpp-twpcongenitaldefects_web.pdf"},{"key":"101_CR22","unstructured":"Human Development Report (2009) Overcoming Barriers: Human Mobility and Development. Available at http:\/\/hdr.undp.org\/en\/reports\/global\/hd2009\/"},{"key":"101_CR23","unstructured":"International Clearinghouse for Birth Defects (2005) Programme Descriptions. Available online at: http:\/\/www.icbdsr.org\/page.asp?p=12919&l=1#SouthAfrica"},{"key":"101_CR24","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1136\/jmg.27.12.760","volume":"27","author":"T Jenkins","year":"1990","unstructured":"Jenkins T (1990) Medical genetics in South Africa. J Med Genet 27:760\u2013779","journal-title":"J Med Genet"},{"key":"101_CR25","first-page":"95","volume":"51","author":"T Jenkins","year":"1977","unstructured":"Jenkins T, Lane AB, Kromberg JGR (1977) Tay\u2013Sachs disease: screening and prevention in South Africa. S Afr Med J 51:95\u201398","journal-title":"S Afr Med J"},{"key":"101_CR26","first-page":"383","volume":"61","author":"JGR Kromberg","year":"1982","unstructured":"Kromberg JGR, Jenkins T (1982a) Prevalence of albinism in the South African negro. S Afr Med J 61:383\u2013386","journal-title":"S Afr Med J"},{"key":"101_CR27","first-page":"599","volume":"62","author":"JGR Kromberg","year":"1982","unstructured":"Kromberg JGR, Jenkins T (1982b) Common birth defects in South African blacks. S Afr Med J 62:599\u2013602","journal-title":"S Afr Med J"},{"key":"101_CR28","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/978-1-349-25882-6_11","volume-title":"Culture, kinship and genes","author":"JGR Kromberg","year":"1997","unstructured":"Kromberg JGR, Jenkins T (1997) Cultural influences on the perception of genetic disorders in the Black population of Southern Africa. In: Clarke A, Parsons E (eds) Culture, kinship and genes. Macmillan, London, pp 147\u2013157"},{"key":"101_CR29","first-page":"344","volume":"76","author":"JGR Kromberg","year":"1989","unstructured":"Kromberg JGR, Bernstein R, Jacobson M, Rosendorff J, Jenkins T (1989) A decade of mid-trimester amniocentesis in Johannesburg: prenatal diagnosis, problems and counselling. S Afr Med J 76:344\u2013349","journal-title":"S Afr Med J"},{"key":"101_CR30","unstructured":"Kromberg JGR, Krause A, Wessels T (2009) Roles of genetic counsellors in South Africa. SA Society for Human Genetics 13th congress, 5\u20138 April 2009, Stellenbosch, South Africa. Book of Abstracts, p. 36"},{"key":"101_CR31","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1016\/j.nmd.2007.05.005","volume":"17","author":"R Labrum","year":"2007","unstructured":"Labrum R, Rodda J, Krause A (2007) The molecular basis of spinal muscular atrophy (SMA) in South African black patients. Neuromuscul Disord 17:684\u2013692","journal-title":"Neuromuscul Disord"},{"key":"101_CR32","unstructured":"Lancet Series (2009) Health in South Africa 1\u20136. Published online at http:\/\/www.thelancet.com on 15 August 2009"},{"key":"101_CR33","first-page":"321","volume":"76","author":"EH Lombard","year":"1989","unstructured":"Lombard EH, Kromberg JGR, Thomson PD, Milner LS, van Biljon I, Jenkins T (1989) Autosomal recessive polycystic kidney disease. Evidence for high frequency of the gene in the Afrikaans-speaking population. S Afr Med J 76:321\u2013323","journal-title":"S Afr Med J"},{"key":"101_CR34","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1023\/A:1005491014280","volume":"22","author":"N Manga","year":"1999","unstructured":"Manga N, Jenkins T, Jackson H, Whittaker DA, Lane AB (1999) The molecular basis of transferase galactosaemia in South African negroids. J Inherit Metab Dis 22:37\u201342","journal-title":"J Inherit Metab Dis"},{"key":"101_CR35","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1111\/j.1530-0277.2008.00634.x","volume":"32","author":"PA May","year":"2008","unstructured":"May PA, Gossage JP, Marais A-S, Hendricks LS, Snell CL, Tabachnick BG, Stellavato C, Buckley DG, Brooke LE, Viljoen DL (2008) Maternal risk factors for fetal alcohol syndrome and partial fetal alcohol syndrome in South Africa: a third study. Alcohol Clin Exp Res 32:738\u2013753","journal-title":"Alcohol Clin Exp Res"},{"key":"101_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ejhg.2009.126","volume":"18","author":"M McAllister","year":"2010","unstructured":"McAllister M, Dunn G, Todd C (2010) Empowerment: qualitative underpinning of a new clinical genetics-specific patient-reported outcome. Eur J Hum Genet 18:1\u20136","journal-title":"Eur J Hum Genet"},{"key":"101_CR37","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1111\/j.1399-0004.1996.tb02352.x","volume":"50","author":"B Morar","year":"1996","unstructured":"Morar B, Lane AB (1996) The molecular characterisation of Gaucher disease in South Africa. Clin Genet 50:78\u201384","journal-title":"Clin Genet"},{"key":"101_CR38","doi-asserted-by":"publisher","first-page":"3542","DOI":"10.1182\/blood-2004-10-3968","volume":"105","author":"NV Morgan","year":"2005","unstructured":"Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG (2005) A common Fanconi anemia mutation in black populations of Sub-Saharan Africa. Blood 105:3542\u20133544","journal-title":"Blood"},{"key":"101_CR39","volume-title":"Incidence of histologically diagnosed cancer in South Africa, 1998\u20131999","author":"N Mqoqi","year":"2004","unstructured":"Mqoqi N, Kellett P, Sitas F, Jula M (2004) Incidence of histologically diagnosed cancer in South Africa, 1998\u20131999. National Cancer Registry of South Africa, Johannesburg"},{"key":"101_CR40","unstructured":"National Health Acts No. 63 of 1997 and No. 61 of 2003"},{"key":"101_CR41","volume-title":"Annual Report 2008\u20132009","author":"National Health Laboratory Service","year":"2009","unstructured":"National Health Laboratory Service (2009) Annual Report 2008\u20132009. NHLS, Johannesburg"},{"key":"101_CR42","volume-title":"Genetic services for congenital and hereditary disorders","author":"J Opt\u2019Hof","year":"1985","unstructured":"Opt\u2019Hof J (1985) Genetic services for congenital and hereditary disorders. Eng Enterprises, Pretoria"},{"key":"101_CR43","first-page":"41","volume":"36","author":"C Padoa","year":"1999","unstructured":"Padoa C, Goldman A, Jenkins T, Ramsay M (1999) Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 36:41\u201344","journal-title":"J Med Genet"},{"key":"101_CR44","volume-title":"A study of the three most common chromosome trisomies, 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome). MSc Research Report","author":"N Parrott","year":"1997","unstructured":"Parrott N (1997) A study of the three most common chromosome trisomies, 21 (Down syndrome), 18 (Edwards syndrome) and 13 (Patau syndrome). MSc Research Report. University of the Witwatersrand, Johannesburg"},{"key":"101_CR45","volume-title":"Saving children 2005: a survey of child healthcare in South Africa","author":"M Patrick","year":"2007","unstructured":"Patrick M, Stephen C (2007) Saving children 2005: a survey of child healthcare in South Africa. MRC Unit for Maternal and Infant Health Care Strategies, Pretoria"},{"key":"101_CR46","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1002\/ajmg.1320270408","volume":"27","author":"J Rosendorff","year":"1987","unstructured":"Rosendorff J, Bernstein R, MacDougall L, Jenkins T, Opitz JM, Reynolds JF (1987) Fanconi Anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 27:793\u2013797","journal-title":"Am J Med Genet"},{"key":"101_CR47","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1002\/bdra.20442","volume":"82","author":"A-R Sayed","year":"2008","unstructured":"Sayed A-R, Bourne D, Pattinson R, Nixon J, Henderson B (2008) Decline in the prevalence of neural tube defects following folic acid fortification and its cost\u2013benefit in South Africa. Birth Defects Res (Part A) 82:211\u2013216","journal-title":"Birth Defects Res (Part A)"},{"key":"101_CR48","unstructured":"South African Institute of Race Relations (2009) South African Survey 2008\/2009: Demographics. Geographical distribution and urbanisation. pp35-39. Available at http:\/\/www.sairr.org.za"},{"key":"101_CR49","unstructured":"Statistics South Africa (2009) Mid-year population estimates. Mortality, expectation of life at birth, and fertility. pp 6\u20137. Available at http:\/\/www.statssa.gov.za\/publications\/P0302\/P03022009.pdf"},{"key":"101_CR50","volume-title":"Guidelines on ethical issues in medical genetics and the provision of genetic services","author":"DC Wertz","year":"1995","unstructured":"Wertz DC, Fletcher JC, Berg K, Boulyjenkov V (1995) Guidelines on ethical issues in medical genetics and the provision of genetic services. World Health Organisation Hereditary Diseases Programme, Geneva"},{"key":"101_CR51","unstructured":"Wikipedia (2011) Map of South Africa with English labels. Available at http:\/\/en.wikipedia.org\/wiki\/South_Africa"},{"key":"101_CR52","unstructured":"World Bank (2010) Country Classification Table. Available at http:\/\/data.worldbank.org\/country\/south-africa"},{"key":"101_CR53","unstructured":"World Health Organization (2006) Management of Birth Defects and Haemoglobin Disorders: Report of a joint WHO-March of Dimes meeting, 17\u201319 May 2006, Geneva, Switzerland. Available at http:\/\/www.who.int\/genomics\/publications\/WHO-MODreport-final.pdf"},{"key":"101_CR54","unstructured":"World Health Organization (2009a) World Health Statistics 2009. Part 4: Mortality and burden of disease. pp 35\u201345. Available at http:\/\/www.who.int\/whosis\/whostat\/2009\/en\/index.html"},{"key":"101_CR55","unstructured":"World Health Organization (2009b) World Health Statistics 2009. Part 7: Health Expenditure. pp 107\u2013117. Available at http:\/\/www.who.int\/whosis\/whostat\/2009\/en\/index.html"},{"key":"101_CR56","unstructured":"World Health Organization. (2010a) Genes and Human Disease: Monogenic diseases. Map of global distribution of haemoglobin disorders. Available at http:\/\/www.who.int\/genomics\/public\/Maphaemoglobin.pdf"},{"key":"101_CR57","unstructured":"World Health Organization (2010b) Sixty-Third World Health Assembly. Provisional agenda item 11.7. April 2010. Available at http:\/\/apps.who.int\/gb\/ebwha\/pdf_files\/WHA63\/A63_10-en.pdf"}],"container-title":["Journal of Community Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-012-0101-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12687-012-0101-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-012-0101-5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12687-012-0101-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T19:46:55Z","timestamp":1744055215000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12687-012-0101-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,19]]},"references-count":57,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["101"],"URL":"https:\/\/doi.org\/10.1007\/s12687-012-0101-5","relation":{},"ISSN":["1868-310X","1868-6001"],"issn-type":[{"value":"1868-310X","type":"print"},{"value":"1868-6001","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,19]]},"assertion":[{"value":"18 January 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 May 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 June 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}