Delivery of genetic services in developing countries

Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

Volumn , Issue , 2009, Pages

  Penchaszadeh, Victor B ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Birth defects; Developing countries; Genetic services; Public health; Underdevelopment

Indexed keywords

EID: 84940013665     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1093/acprof:oso/9780195128307.003.0017     Document Type: Chapter

References (101)

1. World Bank. World development report, 1993. New York: Oxford University Press, 1993.
2. United Nations Development Programme. Human development report 1997. New York and Oxford: Oxford University Press, 1997.
3. UNICEF.The state of the world's children, 1998. Oxford and New York: Oxford University Press, 1998.
4. Murray, C, Lopez, A (eds). The global burden of disease. Cambridge, MA: Harvard School of Public Health, 1996, p. 176.
5. World Bank. Confronting AIDS. Public priorities in a global epidemic. New York: Oxford University Press, 1997.
6. United Nations Population Fund. The state of world population. New York: UNFPA, 1998.
7. The Allan Guttmacher Institute. Clandestine abortion: a Latin American reality. New York and Washington, DC:The Alan Guttmacher Institute, 1994.
8. WHO. Community approaches to the control of hereditary diseases. Report of a WHO Advisory Group on Hereditary Diseases. Geneva, 3-5 October 1985. Unpublished WHO document HMG/AG/85.10. Hereditary Diseases Programme. Geneva: WHO 1985.
9. Mutchinick O, Lisker R, Rabinsky V. The Mexican program of registration and epidemiologic surveillance of external congenital malformations (SPA). Salud Publica Mex 1988;30:88-100.
10. Saborio M. Experience in providing genetic services in Costa Rica. In: Kuliev A, Greendale K, Penchaszadeh VB, Paul NW (eds). Genetic services provision: an international perspective. Birth Defects Orig Art Ser 1992;28:96-102. March of Dimes Birth Defects Foundation, White Plains, New York.
11. Heredero L. Comprehensive national genetic program in a developing country-Cuba. In: Kuliev A, Greendale K, Penchaszadeh VB, Paul NW (eds). Genetic services provision: an international perspective. Birth Defects Orig Art Ser 1992;28:52-57. March of Dimes Birth Defects Foundation, White Plains, New York.
12. Castilla EE, Lopez-Camelo JS. The surveillance of birth defects in South America: I. The Search for time clusters:Epidemics. Adv in Mutag 1990;2:191-210.
13. Delport SD, Christianson AL. Congenital anomalies in black South African liveborn neonates at an urban academic hospital. S Afr Med 1995;85:11-15.
14. Venter PA, Christianson AL, Hutamo CM, Makhura MP, Gericke GS. Congenital anomalies in rural black South African neonates-a silent epidemic? S Afr Med J 1995;85:15-20.
15. Xiao KZ, Lang ZC, Chen JH, Liu SL, et al. Consecutive three-year birth defects monitoring in Sichuan province. Heredity Dis 1988;5:65-68.
16. ICBDMS. Congenital malformations worldwide: a report from the international clearinghouse for birth defects monitoring systems. Amsterdam: Elsevier. 1991.
17. World atlas of birth defects. Geneva: International Centre for Birth Defects and World Health Organization, 1998.
18. Alwan AA, Modell B. Community control of genetic and congenital disorders. Technical Publications Series, No. Alexandria WHO Regional Office for the Eastern Mediterranean, 1997.
19. Xiao, KZ, Zhang, ZY, Su, YM, Liu, FQ. et al. Central nervous system congenital malformations, especially neural tube defects in 29 provinces, metropolitan cities and autonomous regions of China: Chinese Birth Defects Monitoring Program. Int J Epidemiol 1990;19:978-982.
20. Castilla EE, Orioli IM. Prevalence rates of microtia in South America. Int J Epidemiol 1986;15:364-368.
21. Modell B, Bulyzhenkov V. Distribution and control of some genetic disorders. World Health Stat Q 1988;41(3/4):209-218.
22. Zhang, SZ, Xie, T, Tang, YC, Zhang, SL, Xu, Y. The prevalence of chromosome diseases in the general population of Sichuan, China. Clin Genet 1991;39:81-88.
23. Report of a WHO Scientific Group. Control of hereditary diseases. Geneva: WHO Technical Report Series 865, 1996.
24. Khlat M. Endogamy in the Arab world. In: Teebi AS, Farag TI (eds). Genetic disorders among Arab populations. New York and Oxford: Oxford University Press. 1997, pp. 63-77.
25. Bittles AH, Mason WM, Greene, Rao NA. Reproductive behavior and health in consanguineous marriages. Science 1991;252:789-794.
26. Jaber L, Halpern GJ, Shohat M. The impact of consanguinity worldwide. Community Genet 1998;1:12-17.
27. Devi ARR, Rao NA, Bittles AH. Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India, J Med Genet 1987;24:362-365.
28. Khlat M, Khoury M. Inbreeding and diseases: demographic, genetic and epi-demiologic perspectives. Epidemiol Rev 1991;13:28-41.
29. Freire-Maia N. Genetic effects in Brazilian populations due to consanguineous marriages. Am J Med Genet 1989;35:115-117.
30. Imaizumi Y. A recent survey of consanguineous marriages in Japan. Clin Genet 1986;30:230-233.
31. Modell B, Kuliev AM. Social and genetic implications of customary consanguineous marriage among British Pakistanis. Report on a meeting held at the Ciba Foundation, January 15,1991. London: The Galton Institute, 1992.
32. Castilla EE, Sod, R. The surveillance of birth defects in South America: II. The search for geographic clusters:endemics. Adv Mutag Res 1990;2:211-230.
33. Kremer RD, Levstain IM. Enfermedad de Sandhoff o gangliosidosis GM2 tipo-2. Medicina 1980;40:55-73. [Spanish]
34. Quelce-Salgado A. A new type of dwarfism with various bone aplasias and hypoplasias of the extremities. Acta Genet 1964;14:63-66.
35. Freie-Maia A. Historical note. The extraordinary handless and footless families of Brazil: 50 years of acheiropodia. Am J Med Genet 1981;9:31-41.
36. Leon PE, Bonilla JA, Sanchez JR, et al. Low frequency hereditary deafness in man with childhood onset. Am J Hum Genet 1981;33:209-214.
37. Auburger G, Orozco Diaz G, Ferreira Capote R, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet 1990;46:1163-1177.
38. Arias S. Osteochondrodysplasia Irapa type: an ethnic marker gene in two subcontinents. Am J Med Genet 1981;8:251-253.
39. Avila-Giron R. Medical and social aspects of Huntington Chorea in the State of Zulia, Venezuela. In: Barbeau A, Chase TN, Paulson GW (eds). Advances in Neurology, Vol. 1. New York: Raven Press, 1973, pp. 261-266.
40. Kromberg JGR, Jenkins T. Albinism in the South African Negro: II. Prevalence. S Afr Med J 1982;61:383-386.
41. Serjeant GR. Geography and the clinical picture of sickle-cell disease. Ann N Y Acad Sci 1989;565:109-119.
42. Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The metabolic and molecular basis of inherited disease. New York: McGraw-Hill, 1995, pp. 3417-3484.
43. Report of the 7th Meeting of the WHO Working Group on the Control of Hereditary Anemias. Nicosia, Cyprus, 3-4 April 1993 (WHO/HDP/TIF/HA/93.1).
44. Granda H, Gispert S, Dorticos A, et al. Cuban programme for prevention of sickle cell disease. Lancet 1991;337:152-154.
45. Naoum PC, de Mattos LC, Curi PR. Prevalence and geographic distribution of abnormal hemoglobins in the state of Sao Paulo, Brazil. Bull Pan Am Health Organ 1984;18:127-138.
46. Salzano FM. Incidence, effects, and management of sickle cell disease in Brazil. J Pediatr Hematol/Oncol 1985;7:240-244.
47. Martins CSB, Ramalho AS, Sonati MF, Goncalves MS, Costa FF. Molecular characterization of beta-thalassemia heterozygotes in Brazil. J Med Genet 1993;30: 797-798.
48. El-Hazmi MAF, Warsy AS. Hemoglobinopathies in Arab countries. In: Teebi AS, Farag TI (eds). Genetic disorders among Arab populations. New York and Oxford: Oxford University Press, 1997, pp. 83-110.
49. Winichagoon P, Fucharoen S, Thonglairoam V, Tanapotiwirai V, Wasi P. Thalassemia in Thailand. Ann N Y Acad Sci 1990;612:31-42.
50. Zeng YT, Huang SZ. Disorders of hemoglobin in China. J Med Genet 1987;24:578-583.
51. Perez-Comas A, Garcia-Castro JM. Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies: report of six cases and review of the literature. J Pediatr 1974;85:388-391.
52. Al-Rajeh S, Bademosi, O, Ismail H, et al. A community survey of neurological disorders in Saudi Arabia. The Thugbah study. Neuroepidemiology 1993;12:164-178.
53. Community Control of Hereditary Anemias. Memorandum from a WHO meeting. Bull World Health Organ 1983;61:63-80.
54. Pan American Health Organization. Health conditions in the Americas. Washington, DC: PAHO 1994.
55. Barreiro CZ, Negrotti T, Penchaszadeh VB. Prevalence of genetic disease in a pediatric referral hospital. Excerpta Med Intl Congr Series 1976;397:60-61.
56. Penchaszadeh VB. Frequency and characteristics of birth defects admissions to a pediatric hospital in Venezuela. Am J Med Genet 1979;3:359-369.
57. Carnevale A, Hernandez M, Reyes R, Paz F, Sosa C. The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City. Am J Med Genet 1985;20:665-675.
58. Penchaszadeh VB. Implementing comprehensive genetic services in developing countries: the case of Latin America. In: Kuliev A, Greendale K, Penchaszadeh VB, Paul NW (eds). Genetic services provision: an international perspective. Birth Defects Orig Art Ser 1992;28(3): 17-26. March of Dimes Birth Defects Foundation. White Plains, New York.
59. Angastiniotis MA, Hadjiminas MG. Prevention of thalassemia in Cyprus. Lancet 1981;1:369-370.
60. Angastiniotis MA, Kyriakidou S, Hadjiminas M. How thalassaemia was controlled in Cyprus. World Health Forum 1986;7:291-297.
61. El-Hazmi MAF. Care for people with hemoglobin disorders. World Health Forum 1994;15:165-168.
62. Anionwu EN, Patel N, Kanji G, Rengers H, Brosovic M. Counselling for prenatal diagnosis of sickle cell disease and B thalassaemia major: a four-year experience. J Med Genet 1988;25:769-772.
63. Akinyanju OO, Anionwu EN. Training of counsellors on sickle cell disorders in Africa. Lancet 1989;1:653-654.
64. Penchaszadeh VB, Beiguelman B (eds). Medical genetic services in Latin America. Geneva: WHO publication WHO/HGN/CONS/MGS/98.4, 1998.
65. Penchaszadeh VB, Beiguelman B. Medical genetic services in Latin America: report of a meeting of experts. Pan Am J Public Health 1998;3:409-420.
66. Harris R. Preface and Overview. Genetic services in Europe. Eur J Hum Genet 1997;5(Suppl 2):1-21.
67. Pan American Health Organization. Prevention and control of genetic diseases and congenital defects: report of an advisory group. Scientific Publication 460. Washington, DC: PAHO, 1984.
68. Organizatión Panamericana de la Salud. Ejecucion de Actividades de Salud de Genética en America Latina y el Caribe. Informe de un Grupo de Expertos. Havana, Cuba, 9-11 October, 1987. Internal Publication. Washington, DC: PAHO 1988.
69. World Health Organization. Implementation of cystic fibrosis services in developing countries: report of a joint WHO/International Cystic Fibrosis (Mucoviscidosis) Association Meeting. Manama, Bahrain, 18-19 November 1995. Geneva: WHO publication WHO/HGN/ICF(M)A/WG/95.6,1995.
70. Pan American Health Organization. PAHO/WHO Consultation on the development of PAHO strategy on congenital disorders. Washington, DC, 7-8 October 1998. Washington, DC: PAHO internal publication, 1998.
71. World Health Organization. Prevention and care of genetic diseases and birth defects in developing countries:report of a joint WHO/World Alliance of Organizations for the Prevention of Birth Defects Meeting. The Hague, 5-7 January 1999. WHO publication, (in press).
72. Granda H, Gispert S, Martinez G, et al. Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba. Prenat Diagn 1994;14:659-662.
73. Dorticos-Balea A, Martin-Ruiz M, Hechevarria-Fernandez P, et al. Reproductive behaviour of couples at risk for sickle cell disease in Cuba: a follow-up study. Prenat Diagn 1997;17:737-742.
74. Rodriguez L, Sanchez R, Hernandez J, et al. Results of 12 years' combined maternal serum alpha-fetoprotein screening and ultrasound fetal monitoring for prenatal detection of fetal malformations in Havana City, Cuba. Prenat Diagn 1997;4:301-304.
75. Penchaszadeh VB, Heredero L, Punales-Morejon D, Rojas I, Perez ET. Genetic counseling training in Cuba (Abstract) Am J Hum Genet 1997;61(4) (Suppl: A):1099.
76. Xin M. Ethics and genetics in China. In: Wertz DC, Fletcher JC (eds). Ethics and human genetics: an international perspective (2nd ed). New York: Springer-Verlag. (in press).
77. Lo, WHY. Medical genetics in China. J Med Genet 1988;25:253-257.
78. Zeng YT, Huang SZ, Zhang ML. Prenatal diagnosis of thalassemia: experiences at the Shanghai Children's Hospital. Hemoglobin 1988;12(5&6):796-800.
79. Zhou ZL. Recent advances of perinatal medicine in China. Chin Med J (Engl) 1995;108(5):387-389.
80. Wang Y, Becker S, Chow LP, Wang SX. Induced abortion in eight provinces of China. Asia Pac J Public Health 1991;5:32-40.
81. Law of the People's Republic of China on Maternal and Infant Health Care. Order of the President of the People's Republic of China No. 33, October 27,1994.
82. Editorial. Western eyes on China's eugenics law. Lancet 1995;346:131.
83. Verma, IC. Control of genetic disorders in India. Paper presented at the joint WHO/World Alliance of Organizations for the Prevention of Birth Defects Meeting. The Hague, 5-7 January 1999.
84. Chaterjee JB. Hemoglobinopathies, glucose-6-phosphate dehydrogenase and allied problems in the Indian subcontinent. Bull World Health Organ 1966;35:837-856.
85. Sangani B, Sukumaran PK, Mahadik C, et al. Thalassaemia in Bombay: the role of medical genetics in developing countries. Bull World Health Organ 1990;68:75-81.
86. Verma IC, Singh B. Ethics and medical genetics in India. In: Wertz DC, Fletcher JC (eds). Ethics and human genetics. New York: Springer-Verlag, 1989, pp. 250-270.
87. Saxena R, Jain PK, Thomas E, Verma IC. Prenatal diagnosis of beta-thalassemia: experience in a developing country. Prenat Diagn 1998;18:1-7.
88. Jenkins T. Medical genetics in South Africa. J Med Genet 1990;27:760-779.
89. Kromberg JGR, Jenkins T. Common birth defects in South African Blacks. S Afr Med J 1982;62:599-602.
90. Kromberg JGR, Christianson AL, Duthie-Nurse G, Zwane E, Jenkins T. Down syndrome in the black population (Letter). S Afr Med J 1992;81:337.
91. Christianson AL. Down syndrome in sub-Saharan Africa. J Med Genet 1996;33:89-92.
92. Manga, N, Jenkins, T, Lane, AB. The molecular basis of transferase galactosemia in the South African black population. SA Society of Human Genetics Congress, Pilanesberg, 18-21 May 1997. Abstract Book: 43.
93. Department of Health of South Africa. White paper for the transformation of the health system in South Africa. Government Gazette, 16 April 1997, Vol. 382, No. 17910. Pretoria, South Africa.
94. Viljoen D, Beighton P, Hitzeroth H. Medical genetics in primary health care. S Afr Med J 1995;85:1-3.
95. Christianson AL, Venter PA, Gericke GS, du Toit JL, Buckle C. Nelson M. Genetics for Africa: experience in the northern province of South Africa 1990-1995 (abstract). Eur J Hum Genet 1998;6(Suppl 1):183.
96. Christianson AL, Modiba J, Venter PA. Clinical case load of a genetic trained nursing sister in a rural South African hospital (abstract) Eur J Hum Genet 1998;6(Suppl 1):183.
97. Subdirectorate of Human Genetics, Department of Health of South Africa. Policy for the prevention and care of genetic diseases at the primary care level. Pretoria, South Africa, 1998.
98. Viljoen D, Oosthuizen C, Van der Westhuizen S. Patient attitudes to prenatal screening and termination of pregnancy at Groote Schuur Hospital: a two-year prospective study. East Afr Med J 1996;73:327-329.
99. World Health Organization. World Health Report 1997. Geneva: WHO 1997.
100. El-Hazmi MAF. Genetic diseases in Arabia: a model for national awareness and care programme. Saudi Med J 1992;13:514-520.
101. World Health Organization. Proposed international guidelines on ethical issues in medical genetic and genetic services. Report of a WHO meeting on ethical issues in medical genetics. Geneva, 15-16 December 1997. Publ. WHO/HGN/GL/ETH/98.1.