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Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review

Abstract

Purpose

We performed a systematic review of the ethical, social, and cultural issues associated with delivery of genetic services in low- and middle-income countries (LMICs).

Methods

We searched 11 databases for studies addressing ethical, social, and/or cultural issues associated with clinical genetic testing and/or counselling performed in LMICs. Narrative synthesis was employed to analyze findings, and resultant themes were mapped onto the social ecological model (PROSPERO #CRD42016042894).

Results

After reviewing 13,308 articles, 192 met inclusion criteria. Nine themes emerged: (1) genetic counseling has a tendency of being directive, (2) genetic services have psychosocial consequences that require improved support, (3) medical genetics training is inadequate, (4) genetic services are difficult to access, (5) social determinants affect uptake and understanding of genetic services, (6) social stigma is often associated with genetic disease, (7) family values are at risk of disruption by genetic services, (8) religious principles pose barriers to acceptability and utilization of genetic services, and (9) cultural beliefs and practices influence uptake of information and understanding of genetic disease.

Conclusion

We identified a number of complex and interrelated ethical, cultural, and social issues with implications implications for further development of genetic services in LMICs.

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Fig. 1: Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) flow diagram.
Fig. 2: Sources of data in low- and middle-income countries (LMICs) among included studies.
Fig. 3: Social ecological model of identified ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries (LMICs).

References

  1. Tindana P, Bull S, Amenga-Etego L, et al. Seeking consent to genetic and genomic research in a rural Ghanaian setting: a qualitative study of the MalariaGEN experience. BMC Med Ethics. 2012;13:15.

    PubMed  PubMed Central  Google Scholar 

  2. de Vries J, Bull SJ, Doumbo O, et al. Ethical issues in human genomics research in developing countries. BMC Med Ethics. 2011;12:5.

    PubMed  PubMed Central  Google Scholar 

  3. de Vries J, Jallow M, Williams TN, et al. Investigating the potential for ethnic group harm in collaborative genomics research in Africa: is ethnic stigmatisation likely? Soc Sci Med. 2012;75:1400–7.

    PubMed  PubMed Central  Google Scholar 

  4. de Vries J, Pepper M. Genomic sovereignty and the African promise: mining the African genome for the benefit of Africa. J Med Ethics. 2012;38:474–8.

    PubMed  Google Scholar 

  5. de Vries J, Slabbert M, Pepper MS. Ethical, legal and social issues in the context of the planning stages of the Southern African Human Genome Programme. Med Law. 2012;31:119–52.

    PubMed  Google Scholar 

  6. Jenkins T. Ethics and the Human Genome Diversity Project: an African perspective. Polit Life Sci. 1999;18:308–11.

    CAS  Google Scholar 

  7. GeneReviews®. Margaret P Adam, Editor-in-Chief; Senior Editors: Holly H Ardinger, Roberta A Pagon, and Stephanie E Wallace. Molecular Genetics: Lora JH Bean and Karen Stephens. Anne Amemiya, Genetic Counseling.Seattle (WA): University of Washington, Seattle; 1993-2018.ISSN: 2372-0697 Available at: http://genetests.org

  8. Wonkam A, Muna W, Ramesar R, et al. Capacity-building in human genetics for developing countries: initiatives and perspectives in sub-Saharan Africa. Public Health Genomics. 2010;13:492–4.

    CAS  PubMed  Google Scholar 

  9. Horovitz DDG, de Faria Ferraz VE, Dain S, Marques-de-Faria AP. Genetic services and testing in Brazil. J Community Genet. 2013;4:355–75.

    PubMed  Google Scholar 

  10. Nivoloni K, de AB, da Silva-Costa SM, et al. Newborn hearing screening and genetic testing in 8974 Brazilian neonates. Int J Pediatr Otorhinolaryngol. 2010;74:926–9.

    Google Scholar 

  11. Vieira TP, Sgardioli IC, Gil-da-Silva-Lopes VL. Genetics and public health: the experience of a reference center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing. J Community Genet. 2013;4:99–106.

    PubMed  Google Scholar 

  12. Human Genomics in Global Health. World Health Organization. http://www.who.int/genomics/en/. Accessed August 4, 2016.

  13. Joseph B, Shanmugam M, Srinivasan M, Kumaramanickavel G. Retinoblastoma: genetic testing versus conventional clinical screening in India. J Mol Diagn. 2004;8:237–43.

    Google Scholar 

  14. Kucheria K, Jobanputra V, Talwar R, et al Human molecular cytogenetics: diagnosis, prognosis, and disease management. Teratog Carcinog Mutagen 2003: 225–33.

  15. Huang Q, Dryja T, Yandell D. Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998;15:65–8.

    PubMed  Google Scholar 

  16. Joseph B, Madhavan J, Mamatha G, et al. Retinoblastoma: a diagnostic model for India. Asian Pac J Cancer Prev. 2006;7:485–8.

    PubMed  Google Scholar 

  17. Parsam V, Kannabiran C, Honavar S, et al. A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. J Genet. 2009;88:517–27.

    CAS  PubMed  Google Scholar 

  18. Ramprasad V, Madhavan J, Murugan S, et al. Retinoblastoma in India: microsatellite analysis and its application in genetic counseling. Mol Diagn Ther. 2007;11:63–70.

    CAS  PubMed  Google Scholar 

  19. Wonkam A, Tekendo C, Sama D, et al. Initiation of a medical genetics service in sub-Saharan Africa: experience of prenatal diagnosis in Cameroon. Eur J Med Genet. 2011;54:e399–404.

    PubMed  Google Scholar 

  20. Chaabouni H, Chaabouni M, Maazoul F, et al. Prenatal diagnosis of chromosome disorders in Tunisian population. Ann Genet. 2001;44:99–104.

    CAS  PubMed  Google Scholar 

  21. Dimaras H, Dimba E, Gallie B. Challenging the global retinoblastoma survival disparity through a collaborative research effort. Br J Ophthalmol. 2010;94:1415–6.

    PubMed  Google Scholar 

  22. Hill JA, Kimani K, White A, Barasa F, Livingstone M, Gallie BL, Dimaras H; Daisy’s Eye Cancer Fund & The Kenyan National Retinoblastoma Strategy Group. Achieving optimal cancer outcomes in East Africa through multidisciplinary partnership: a case study of the Kenyan National Retinoblastoma Strategy group. Global Health 2016 May 26;12:23.

  23. Carroll J, Rideout A, Wilson B, et al. Genetic education for primary care providers: improving attitudes, knowledge, and confidence. Can Fam Physician. 2009;55:e92–99.

    PubMed  PubMed Central  Google Scholar 

  24. Dumont-Driscoll M. Genetics and the general pediatrician: where do we belong in this exploding field of medicine? Curr Probl Pediatr Adolesc Health Care. 2002;32:6–28.

    PubMed  Google Scholar 

  25. Holtzman NA. Primary care physicians as providers of frontline genetic services. Fetal Diagn Ther. 1993;8:213–9.

    PubMed  Google Scholar 

  26. Masum H, Singer PA. A visual dashboard for moving health technologies from ‘lab to village’. J Med Internet Res. 2007;9:e32.

    PubMed  PubMed Central  Google Scholar 

  27. Kingsmore SF, Lantos JD, Dinwiddie DL, et al. Next-generation community genetics for low- and middle-income countries. Genome Med. 2012;4:25.

    PubMed  PubMed Central  Google Scholar 

  28. Melo DG, Sequeiros J. The challenges of incorporating genetic testing in the Unified National Health System in Brazil. Genet Test Mol Biomarkers. 2012;16:651–5.

    PubMed  Google Scholar 

  29. Wonkam A, Njamnshi AK, Mbanya D, et al. Acceptability of prenatal diagnosis by a sample of parents of sickle cell anemia patients in Cameroon (sub-Saharan Africa). J Genet Couns. 2011;20:476–85.

    PubMed  Google Scholar 

  30. Tschudin S, Huang D, Mor-Gültekin H. Prenatal counseling–implications of the cultural background of pregnant women on information processing, emotional response and acceptance. Eur J Ultrasound. 2011;32:e100–107.

    Google Scholar 

  31. Jegede AS. Culture and genetic screening in Africa. Dev World Bioeth. 2009;9:128–37.

    PubMed  Google Scholar 

  32. Ghosh K, Shetty S, Pawar A, Mohanty D. Carrier detection and prenatal diagnosis in haemophilia in India: realities and challenges. Haemophilia. 2002;8:51–5.

    CAS  PubMed  Google Scholar 

  33. Zhong A, Darren B, Dimaras H. Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review. Syst Rev. 2017;6:140.

    PubMed  PubMed Central  Google Scholar 

  34. World Bank. Low and middle income. 2016. http://data.worldbank.org/income-level/low-and-middle-income?view=chart. Accessed May 20, 2016.

  35. World Bank. High income. 2016. http://data.worldbank.org/income-level/high-income?view=chart. Accessed May 20, 2016.

  36. World Bank. Taiwan, China. 2016. http://data.worldbank.org/country/taiwan-china. Accessed May 20, 2016.

  37. Kmet L, Lee R, Cook L Standard quality assessment criteria for evaluating primary research papers from a variety of fields. 2004. https://www.ihe.ca/publications/standard-quality-assessment-criteria-for-evaluating-primary-research-papers-from-a-variety-of-fields. Accessed May 21, 2018.

  38. Popay J, Roberts H, Sowden A, et al. Guidance on the conduct of narrative synthesis in systematic reviews: a product from the ESRC Methods Programme. 2006. http://www.lancs.ac.uk/shm/research/nssr/research/dissemination/publications/NS_Synthesis_Guidance_v1.pdfaccessdate?

  39. McLeroy KR, Bibeau D, Steckler A, Glanz K. An ecological perspective on health promotion programs. Health Educ Behav. 1988;15:351–77.

    CAS  PubMed  Google Scholar 

  40. Centers for Disease Control and Prevention. The social-ecological model: a framework for prevention. 2015. http://www.cdc.gov/cancer/crccp/sem.html. Accessed July 16, 2017.

  41. Carnevale A, Villa AR, Armendares S. Attitudes of Mexican geneticists towards prenatal diagnosis and selective abortion. Am J Med Genet. 1998;431:426–31.

    Google Scholar 

  42. Carnevale A, Lisker R, Villa AR, et al. Counselling following diagnosis of a fetal abnormality: comparison of different clinical specialists in Mexico. Am J Med Genet. 1997;28:23–8.

    Google Scholar 

  43. Ataman E, Cogulu O, Durmaz A, et al. The rate of sex chromosome aneuploidies in prenatal diagnosis and subsequent decisions in Western Turkey. Genet Test Mol Biomarkers. 2012;16:150–3.

    PubMed  Google Scholar 

  44. Christianson MA, Christianson AL. South African geneticists’ attitudes to the present Abortion and Sterilisation Act of 1975. South Afr Med J. 1996;86:534–6.

    CAS  Google Scholar 

  45. Balkan M, Kalkanli S, Akbas H, et al. Parental decisions regarding a prenatally detected fetal chromosomal abnormality and the impact of genetic counseling: an analysis of 38 cases with aneuploidy in Southeast Turkey. J Genet Couns. 2010;19:241–6.

    PubMed  Google Scholar 

  46. Gupta JA. Exploring Indian women’s reproductive decision-making regarding prenatal testing. Cult Health Sex. 2010;2:37–41.

    Google Scholar 

  47. Eldahdah L, Ormond K, Nassar A, et al. Outcome of chromosomally abnormal pregnancies in Lebanon: obstetricians’ roles during and after prenatal diagnosis. Prenat Diagn. 2007;27:525–34.

    PubMed  Google Scholar 

  48. Gupta JA. Private and public eugenics: genetic testing and screening in India. J Bioeth Inq. 2007;4:217–28.

    Google Scholar 

  49. Guilam MCR, Corrêa MCDV. Risk, medicine and women: a case study on prenatal genetic counseling in Brazil. Dev World Bioeth. 2007;7:78–85.

    PubMed  Google Scholar 

  50. Lisker R, Carnevale A. Changing opinions of Mexican geneticists on ethical issues. Arch Med Res. 2006;37:794–803.

    PubMed  Google Scholar 

  51. Solomon G, Greenberg J, Futter M, et al. Understanding of genetic inheritance among Xhosa-speaking caretakers of children with hemophilia. J Genet Couns. 2012;21:726–40.

    PubMed  Google Scholar 

  52. Wertz DC, Fletcher JC, Wertz DC, Fletcher JC. Ethical and social issues in prenatal sex selection: a survey of geneticists in 37 nations. Soc Sci Med. 1998;46:255–73.

    CAS  PubMed  Google Scholar 

  53. Yanikkerem E, Ay S, Alev YC. A survey of the awareness, use and attitudes of women towards Down syndrome screening. J Clin Nurs. 2012;22:1748–58.

    PubMed  Google Scholar 

  54. Sui S. The practice of genetic counselling—a comparative approach to understanding genetic counselling in China. Biosocieties. 2009;4:391–405.

    Google Scholar 

  55. Lisker R, Carnevale A, Armendares S. Mexican geneticists’ views of ethical issues in genetics testing and screening. Are eugenic principles involved? Clin Genet. 1999;56:323–7.

    CAS  PubMed  Google Scholar 

  56. Mao X, Wertz DC. China’s genetic services providers’ attitudes towards several ethical issues: a cross-cultural survey. Clin Genet. 1997;52:100–9.

    CAS  PubMed  Google Scholar 

  57. Sleeboom-Faulkner ME. Genetic testing, governance, and the family in the People’s Republic of China. Soc Sci Med. 2011;72:1802–9.

    PubMed  Google Scholar 

  58. Wertz DC. Eugenics is alive and well: a survey of genetic professionals around the world. Sci Context. 2014;11:493–510.

    Google Scholar 

  59. Bruwer Z, Futter M, Ramesar R. Communicating cancer risk within an African context: experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome. Patient Educ Couns. 2013;92:53–60.

    PubMed  Google Scholar 

  60. Karimi M, Bonyadi M, Galehdari M, Zareifar S. Termination of pregnancy due to thalassemia major, hemophilia, and Down’s syndrome: the views of Iranian physicians. BMC Med Ethics. 2008;9:8–11.

    Google Scholar 

  61. Su B, Macer DR. Chinese people’s attitudes towards genetic diseases and children with handicaps. Law Hum Genome Rev. 2003;18:191–210.

    Google Scholar 

  62. Todd C, Haw T, Kromberg J, Christianson A. Genetic counseling for fetal abnormalities in a South African community. J Genet Couns. 2010;19:247–54.

    PubMed  Google Scholar 

  63. Simpson B, Dissanayake VHW, Wickramasinghe D, Jayasekara RW. Prenatal testing and pregnancy termination in Sri Lanka: views of medical. Ceylon Med J. 2003;48:129–32.

    CAS  PubMed  Google Scholar 

  64. Wonkam A, Angwafo F. Prenatal diagnosis may represent a point of entry of genetic science in sub-Saharan Africa: a survey on the attitudes of medical students and physicians from Cameroon. Prenat Diagn. 2006;26:760–1.

    PubMed  Google Scholar 

  65. Hall S, Chitty L, Dormandy E, et al. Undergoing prenatal screening for Down’s syndrome: presentation of choice and information in Europe and Asia. Eur J Hum Genet. 2007;15:563–9.

    PubMed  Google Scholar 

  66. Van den Heuvel A,Hollywood A,Hogg J, et al. Informed choice to undergo prenatal screening for thalassemia: a description of written information given to pregnant women in Europe and beyond. Prenat Diagn. 2008;28:727–34.

    PubMed  Google Scholar 

  67. de Villiers C, Weskamp K, Bryer A. The sword of Damocles: the psychosocial impact of familial spinocerebellar ataxia in South Africa. Am J Med Genet. 1997;74:270–4.

    CAS  PubMed  Google Scholar 

  68. Ghanei M, Adibi P, Movahedi M, et al. Pre-marriage prevention of thalassaemia: report of a 100,000 case experience in Isfahan. Public Health. 1997;111:153–6.

    CAS  PubMed  Google Scholar 

  69. Usta IM, Nassar AH, Abu-musa AA, Hannoun A. Effect of religion on the attitude of primiparous women toward genetic testing. Prenat Diagn. 2010;30:241–6.

    PubMed  Google Scholar 

  70. Correia PS, Vitiello P. Conceptions on genetics in a group of college students. J Community Genet. 2013;4:115–23.

    PubMed  Google Scholar 

  71. Karimi M, Peyvandi F, Siboni S, et al. Comparison of attitudes towards prenatal diagnosis and termination of pregnancy for haemophilia in Iran and Italy. Haemophilia. 2004;10:367–9.

    CAS  PubMed  Google Scholar 

  72. Haghpanah S, Nasirabadi S, Rahimi N, et al. Sociocultural challenges of beta-thalassaemia major birth in carriers of beta-thalassaemia in Iran. J Med Screen. 2012;19:109–11.

    PubMed  Google Scholar 

  73. Dinc L. The psychological impact of genetic testing on parents. J Clin Nurs. 2006;15:45–51.

    PubMed  Google Scholar 

  74. Pattanayak RD, Sagar R. A qualitative study of perceptions related to family risk of bipolar disorder among patients and family members from India. Int J Soc Psychiatry. 2011;58:463–9.

    PubMed  Google Scholar 

  75. Mudiyanse RM. Thalassemia treatment and prevention in Uva province, Sri Lanka: a public opinion survey. Hemoglobin. 2006;30:275–89.

    CAS  PubMed  Google Scholar 

  76. Paneque M, Lemos C, Escalona K, et al. Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba. J Genet Couns. 2007;16:469–79.

    PubMed  Google Scholar 

  77. Paneque HM, Prieto AL, Reynaldo RR, et al. Psychological aspects of presymptomatic diagnosis of spinocerebellar ataxia type 2 in Cuba. Community Genet. 2007;10:132–9.

    CAS  PubMed  Google Scholar 

  78. Ross PT, Lypson ML, Ursu DC, et al. Attitudes of Ghanaian women toward genetic testing for sickle cell trait. Int J Gynecol Obstet. 2011;115:264–8.

    Google Scholar 

  79. Paneque M, Lemos C, Sousa A. Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: experience with the disease, kinship and gender of the transmitting parent. J Genet Couns. 2009;18:483–93.

    PubMed  Google Scholar 

  80. Pandey G, Panigrahi I, Phadke S, Mittal B. Knowledge and attitudes towards haemophilia: the family side and role of haemophilia societies. Community Genet. 2003;6:120–2.

    PubMed  Google Scholar 

  81. 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.

    CAS  PubMed  PubMed Central  Google Scholar 

  82. Wong AE, Kuppermann M, Creasman JM, et al. Patient and provider attitudes toward screening for Down syndrome in a Latin American country where abortion is illegal. Int J Gynecol Obstet. 2011;115:235–9.

    Google Scholar 

  83. Futter M, Heckmann J, Greenberg L. Predictive testing for Huntington disease in a developing country. Clin Genet. 2009;75:92–7.

    CAS  PubMed  Google Scholar 

  84. Basu D, Pettifor JM, Kromberg J. X-linked hypophosphataemia in South Africa. South Afr Med J. 2004;94:460–4.

    Google Scholar 

  85. Canatan D, Ratip S, Kaptan S. Psychosocial burden of b-thalassaemia major in Antalya, South Turkey. Soc Sci Med. 2003;56:815–9.

    PubMed  Google Scholar 

  86. Phadke SR, Agarwal SS. Adverse effects of genetic counselling on women carriers of disease: the Indian perspective. Natl Med J India. 2001;14:47–9.

    CAS  PubMed  Google Scholar 

  87. Mariño TC, Armiñán RR, Cedeño HJ, et al. Ethical dilemmas in genetic testing: examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias. J Genet Couns. 2011;20:241–8.

    PubMed  Google Scholar 

  88. Jain S, Muthane UB, Nagaraja SM. Perspectives towards predictive testing in Huntington disease. Neurol India 2006;54:359–62.

  89. Zahed L, Bou-Dames J. Acceptance of first-trimester prenatal diagnosis for the haemoglobinopathies in Lebanon. Prenat Diagn. 1997;17:423–8.

    CAS  PubMed  Google Scholar 

  90. Romero-Hidalgo S, Urraca N, Parra D, et al. Attitudes and anticipated reactions to genetic testing for cancer among patients in Mexico City. Genet Test Mol Biomarkers. 2009;13:477–83.

    PubMed  Google Scholar 

  91. Sui S, Sleeboom-Faulkner M. Choosing offspring: prenatal genetic testing for thalassaemia and the production of a ‘saviour sibling’ in China. Cult Health Sex. 2010;12:167–75.

    PubMed  Google Scholar 

  92. Wong LP, George E, Tan JMA. Public perceptions and attitudes toward thalassaemia: influencing factors in a multi-racial population. BMC Public Health. 2011;11:193.

    PubMed  PubMed Central  Google Scholar 

  93. Erwene CM, Pacheco JCG. Effectiveness of genetic counselling. Ophthalmic Paediatr Genet. 1991;12:85–91.

    Google Scholar 

  94. 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;18:737–42.

    Google Scholar 

  95. Palmero E, Kalakun L, Schuler-Faccini L, et al. Cancer genetic counseling in public health care hospitals: the experience. Community Genet. 2007;10:110–9.

    PubMed  Google Scholar 

  96. Yilmaz Z, Sahin F, Bulakbasi T, et al. Ethical considerations regarding parental decisions for termination following prenatal diagnosis of sex chromosome abnormalities. Genet Couns. 2008;19:345–52.

    CAS  PubMed  Google Scholar 

  97. Zahed L, Nabulsi M, Usta I. Acceptance of prenatal diagnosis for genetic disorders in Lebanon. Prenat Diagn. 1999;19:1109–12.

    CAS  PubMed  Google Scholar 

  98. Zhang W, Gao Y, Li Q, Xu D. Breast cancer in China: demand for genetic counseling and genetic testing. Genet Med. 2006;8:196–7.

    PubMed  Google Scholar 

  99. Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB. Carrier screening for beta-thalassaemia: a review of international practice. Eur J Hum Genet. 2010;18:1077–83.

    PubMed  PubMed Central  Google Scholar 

  100. Tomatır G, Ozsahin A, Sorkun H, et al. Midwives’ approach to genetic diseases and genetic counseling in Denizli, Turkey. J Genet Couns. 2006;15:191–8.

    PubMed  Google Scholar 

  101. Rim PHH, Magna LA, Ramalho AS. Genetics and prevention of blindness. Arq Bras Oftalmol. 2006;69:481–5.

    PubMed  Google Scholar 

  102. Lim F, Downs J, Li J, et al. Barriers to diagnosis of a rare neurological disorder in China—lived experiences of Rett syndrome families. Am J Med Genet A. 2012;158A:1–9.

    PubMed  Google Scholar 

  103. Saxena A, Phadke S. Thalassaemia control by carrier screening: the Indian scenario. Curr Sci. 2002;83:291–5.

    Google Scholar 

  104. Ghasemi N, Ayatolahi J, Mosaddegh M. Assessment of knowledge and attitude of medical student toward genetic counselling and therapeutic abortion. J Med Sci. 2007;7:810–5.

    Google Scholar 

  105. Jha CB, Jha N, Bhattacharya S, et al. D. Knowledge about human genetics among school students of Eastern Nepal. J Nepal Med Assoc. 2007;46:90–2.

    CAS  Google Scholar 

  106. Gharaibeh H, Oweis A, Hamad KH. Nurses’ and midwives’ knowledge and perceptions of their role in genetic teaching. Int Nurs Rev. 2010;57:435–42.

    CAS  PubMed  Google Scholar 

  107. Dhasaradan I, Shanmugam RS. Nurses’ knowledge about genetics. Nurs J India. 2005;96:249–51.

    PubMed  Google Scholar 

  108. Vural BK, Tomatir AG, Kurban NK, Taspinar A. Nursing students’ self-reported knowledge of genetics and genetic education. Public Health Genomics. 2009;12:225–32.

    Google Scholar 

  109. Oloyede OAO. Down syndrome screening in Nigeria. Int J Gynecol Obstet. 2008;100:88–9.

    CAS  Google Scholar 

  110. Terzioglu F, Dinç L. Nurses’ views on their role in genetics. J Obstet Gynecol Neonatal Nurs. 2002;33:756–64.

    Google Scholar 

  111. Vilatela M, Morales A, de la Cadena CG, et al. Predictive and prenatal diagnosis of Huntington’s disease: attitudes of Mexican neurologists, psychiatrists, and psychologists. Arch Med Res. 1999;30:320–4.

    Google Scholar 

  112. Wonkam A, Njamnshi AK, Angwafo FF. Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa). Genet Med. 2006;8:331–8.

    PubMed  Google Scholar 

  113. Dave U, Shetty N, Mehta L. A community genetics approach to population screening in India for mental retardation—a model for developing countries. Ann Hum Biol. 2005;32:195–203.

    CAS  PubMed  Google Scholar 

  114. Adeyemo O, Omidiji O, Shabi O. Level of awareness of genetic counselling in Lagos, Nigeria: its advocacy on the inheritance of sickle cell disease. Afr J Biotechnol. 2007;6:2758–65.

    CAS  Google Scholar 

  115. Dissanayake VHW, Simpson R, Jayasekara RW Attitudes towards the new genetic and assisted reproductive technologies in Sri Lanka: a preliminary report. New Genet Soc. 2002;21:65–74.

  116. Chen Y, Banta HD, Wang Q. Situation analysis of prenatal diagnosis technology utilization in China: current situation, main issues, and policy implications. Int J Technol Assess Health Care. 2004;4:524–30.

    Google Scholar 

  117. Rodrigues C, de Oliveria V, Camargo G, et al. Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing. J Genet Couns. 2012;21:101–12.

    PubMed  Google Scholar 

  118. Simpson B. On parrots and thorns: Sri Lankan perspective on genetics, science and personhood. Health Care Anal. 2007;15:41–9.

    PubMed  Google Scholar 

  119. Sui S, Sleeboom-Faulkner M. Commercial genetic testing in mainland China: social, financial and ethical issues. J Bioeth Inq. 2007;4:229–37.

    Google Scholar 

  120. Monlleo IL, Gil-da-Silva-Lopes VL. Brazil’s Craniofacial Project: genetic evaluation and counseling in the Reference Network for Craniofacial Treatment. Cleft Palate Craniofac J. 2004;43:29–31.

    Google Scholar 

  121. Achatz W, Isabel M, Hainaut P, et al. Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? Lancet Oncol. 2009;10:920–5.

    PubMed  Google Scholar 

  122. Van Den Heuvel A, Chitty L, Dormandy E, et al. Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia. BJOG. 2009;116:880–5.

    PubMed  Google Scholar 

  123. Van Den Heuvel A, Chitty L, Dormandy E, et al. Informed choice in prenatal testing: a survey among obstetricians and gynaecologists in Europe and Asia. Prenat Diagn. 2008;28:1238–44.

    PubMed  Google Scholar 

  124. Tomatir A, Sorkun H, Demirhan H, Akdag B. Genetics and genetic counseling: practices and opinions of primary care physicians in Turkey. Genet Med. 2007;9:130–5.

    PubMed  Google Scholar 

  125. Abu-musa AA, Nassar AH, Usta IM. Attitude of women with IVF and spontaneous pregnancies towards prenatal screening. Hum Reprod. 2008;23:2438–43.

    PubMed  Google Scholar 

  126. Baxi A, Manila K, Kadhi P. Carrier screening for b thalassemia in pregnant Indian women: experience at a single center in Madhya Pradesh. Indian J Hematol Blood Transfus. 2013;29:71–4.

    PubMed  Google Scholar 

  127. Baig SM, Azhar A, Hassan H, et al. Prenatal diagnosis of β-thalassemia in Southern Punjab, Pakistan. Prenat Diagn. 2006;26:903–5.

    CAS  PubMed  Google Scholar 

  128. Karimi M, Johari S, Cohan N. Attitude toward prenatal diagnosis for b-thalassemia major and medical abortion in southern Iran. Hemoglobin. 2010;34:49–54.

    CAS  PubMed  Google Scholar 

  129. Keskin A, Turk R, Polat A, et al. Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey. Acta Haematol. 2000;104:31–3.

    CAS  PubMed  Google Scholar 

  130. Khorasani G, Kosaryan M, Vahidshahi K, et al. Results of the national program for prevention of beta-thalassemia major in the Iranian province of Mazandaran. Hemoglobin. 2008;32:263–71.

    CAS  PubMed  Google Scholar 

  131. Gharaibeh H, Mater FK. Young Syrian adults’ knowledge, perceptions and attitudes to premarital testing. Int Nurs Rev. 2009;56:450–5.

    CAS  PubMed  Google Scholar 

  132. Nahar R, Puri RD, Saxena R, Verma IC. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures? Am J Med Genet. 2013;161A:76–81.

    PubMed  Google Scholar 

  133. Naseem S, Ahmed S, Vahidy F. Impediments to prenatal diagnosis for beta thalassaemia: experiences from Pakistan. Prenat Diagn. 2008;28:1116–8.

    PubMed  Google Scholar 

  134. Wong LP, George E, Tan JMA. A holistic approach to education programs in thalassemia for a multi-ethnic population: consideration of perspectives, attitudes, and perceived needs. J Community Genet. 2011;2:71–9.

    PubMed  PubMed Central  Google Scholar 

  135. Ahmadnezhad E, Sepehrvand N, Jahani F, et al. Evaluation and cost analysis of national health policy of thalassaemia screening in West-Azerbaijan Province of Iran. Int J Prev Med. 2012;3:687–92.

  136. Ahmed S, Saleem M, Sultana N, et al. Prenatal diagnosis of beta-thalassaemia in Pakistan: experience in a Muslim country. Prenat Diagn. 2000;20:378–83.

    CAS  PubMed  Google Scholar 

  137. Balgir R. Birth control necessary to limit family size in tribal couples with aberrant heterosis of G-6-PD deficiency and sickle cell disorders in India: an urgency of creating awareness and imparting genetic counseling. J Assoc Physicians India. 2010;58:357–62.

    CAS  PubMed  Google Scholar 

  138. Mao X. Chinese geneticists’ views of ethical issues in genetic testing and screening: evidence for eugenics in China. Am J Hum Genet. 1998;63:688–95.

    CAS  PubMed  PubMed Central  Google Scholar 

  139. Penn C, Watermeyer J, Macdonald C, Moabelo C. Grandmothers as gems of genetic wisdom: exploring South African traditional beliefs about the causes of childhood genetic disorders. J Genet Couns. 2010;19:9–21.

    PubMed  Google Scholar 

  140. Ndjapa-Ndamkou C, Govender L, Moodley J. Views and attitudes of pregnancy women regarding late termination of pregnancy for severe fetal abnormalities at a tertiary hospital in KwaZulu Natal. S Afr J Obstet Gynaecol. 2013;19:49–52.

    Google Scholar 

  141. Alsulaiman A, Hewison J. Attitudes to prenatal and preimplantation diagnosis in Saudi parents at genetic risk. Prenat Diagn. 2006;26:1010–4.

    PubMed  Google Scholar 

  142. Pruksanusak N, Suwanrath C, Kor-anantakul O. A survey of the knowledge and attitudes of pregnant Thai women towards Down syndrome screening. J Obstet Gynaecol Res. 2009;35:876–81.

    PubMed  Google Scholar 

  143. Paz-Y-Mino C, Sanchez ME, Sarmiento I, Leone PE. Genetics and congenital malformations: interpretations, attitudes and practices in Ecuador. Community Genet. 2006;9:268–73.

    PubMed  Google Scholar 

  144. Yoon S, Thong M, Taib N, et al. Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Fam Cancer. 2011;10:199–205.

    PubMed  Google Scholar 

  145. Phadke SR, Pandey A, Puri RD, Patil SJ. Genetic counseling: the impact in Indian milieu. Indian J Pediatr. 2004;71:1079–82.

    PubMed  Google Scholar 

  146. Rahaman S, Abd E, Mohamed G, Al B. Prenatal diagnosis in low resource setting: is it acceptable? J Obstet Gynecol India. 2012;62:515–9.

    Google Scholar 

  147. Balgir R. Intervention and prevention of hereditary hemolytic disorders in India: a case study of two ethnic communities of Sundargarh District in Orissa. J Assoc Physicians India. 2008;56:851–8.

    CAS  PubMed  Google Scholar 

  148. Arif MO, Fatmi Z, Pardeep B, et al. Attitudes and perceptions about prenatal diagnosis and induced abortion among adults of Pakistani population. Prenat Diagn. 2008;28:1149–55.

    PubMed  Google Scholar 

  149. Kesari A, Rennert H, Leonard DGB, et al. Prenatal diagnosis of spinal muscular atrophy: Indian scenario. Prenat Diagn. 2005;25:641–4.

    PubMed  Google Scholar 

  150. Neghina AM, Anghel A. Hereditary hemochromatosis: awareness and genetic testing acceptability in Western Romania. Genet Test Mol Biomarkers. 2010;14:847–50.

    PubMed  Google Scholar 

  151. Bryant LD, Ahmed S, Ahmed M, et al. ‘All is done by Allah.’ Understandings of Down syndrome and prenatal testing in Pakistan. Soc Sci Med. 2011;72:1393–9.

    PubMed  Google Scholar 

  152. Awwad R, Veach PM, Bartels DM, Leroy BS. Culture and acculturation influences on Palestinian perceptions of prenatal genetic counseling. J Genet Couns. 2008;17:101–16.

    PubMed  Google Scholar 

  153. Cruz-Marino T, Velazquoz-Perez L, Gonzalez-Zaldivar Y, et al. The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from. Clin Genet. 2013;83:518–24.

    CAS  PubMed  Google Scholar 

  154. Ghotbi N, Tsukatani T. Evaluation of the national health policy of thalassaemia screening in the Islamic Republic of Iran. East Mediterr Health J. 2005;11:308–18.

    CAS  PubMed  Google Scholar 

  155. Gibbon S. Family medicine, ‘La Herencia’ and breast cancer; understanding the (dis)continuities of predictive genetics in Cuba. Soc Sci Med. 2011;72:1784–92.

    PubMed  PubMed Central  Google Scholar 

  156. Widayanti CG, Ediati A, Tamam M, et al. Feasibility of preconception screening for thalassaemia in Indonesia: exploring the opinion of Javanese mothers. Ethn Health. 2011;16:483–99.

    PubMed  Google Scholar 

  157. Gilani AI, Jadoon AS, Qaiser R, et al. Attitudes towards genetic diagnosis in Pakistan: a survey of medical and legal communities and parents of thalassemic children. Community Genet. 2007;10:140–6.

    PubMed  Google Scholar 

  158. Habibzadeh F, Yadollahie M, Roshanipoor M, Haghshenas M. Reproductive behaviour of mothers of children with beta-thalassaemia major. East Mediterr Health J. 2012;18:246.

    CAS  PubMed  Google Scholar 

  159. Fullwiley D. Discriminate biopower and everyday biopolitics: views on sickle cell testing in Dakar. Med Anthropol. 2004;2:157–94.

    Google Scholar 

  160. Meilleur KG, Coulibaly S, Traoré M. Genetic testing and counseling for hereditary neurological diseases in Mali. J Community Genet. 2011;2:33–42.

    PubMed  PubMed Central  Google Scholar 

  161. Das K, Mohanty D. Genetic counseling in tribals in India. Indian J Med Res. 2011;134:561.

    PubMed  PubMed Central  Google Scholar 

  162. Yagnik H. Post counselling follow-up of thalassemia in high risk communities. Indian Pediatr. 1997;34:1115–8.

    CAS  PubMed  Google Scholar 

  163. Lisker R, Carnevale A, Ja V, et al. Mexican geneticists’ opinions on disclosure issues. Clin Genet. 1998;54:321–9.

    CAS  PubMed  Google Scholar 

  164. Panter-Brick C. Coping with an affected birth: genetic counseling in Saudi Arabia. J Child Neurol. 1992;7:69–72.

    Google Scholar 

  165. Arif F, Fayyaz J, Hamid A. Awareness among parents of children with thalassemia major. J Pak Med Assoc. 2008;58:621–4.

    PubMed  Google Scholar 

  166. Sahin NH, Gungor I. Congenital anomalies: parents’ anxiety and women’s concerns before prenatal testing and women’s opinions towards the risk factors. J Clin Nurs. 2008;17:827–36.

    PubMed  Google Scholar 

  167. Durosinmi MA, Hospital RM. Acceptability of prenatal diagnosis of sickle cell anemia (SCA) by female patients and parents of SCA in Nigeria. Soc Sci Med. 1995;41:433–6.

    CAS  PubMed  Google Scholar 

  168. Chattopadhyay S. ‘Rakter dosh’—corrupting blood: the challenges of preventing thalassemia in Bengal, India. Soc Sci Med. 2006;63:2661–73.

    PubMed  Google Scholar 

  169. Alkuraya FS, Kilani RA. Attitude of Saudi families affected with hemoglobinopathies towards prenatal screening and abortion and the influence of religious ruling (fatwa). Prenat Diagn. 2001;21:448–51.

    CAS  PubMed  Google Scholar 

  170. De Silva DC, Jayawardana P, Hapangama A, et al. Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lanka. Prenat Diagn. 2008;28:715–21.

    PubMed  Google Scholar 

  171. Scott CJ, Futter M, Wonkam A. Prenatal diagnosis and termination of pregnancy: perspectives of South African parents of children with Down syndrome. J Community Genet. 2013;4:87–97.

    PubMed  Google Scholar 

  172. Jafri H, Ahmed S, Ahmed M, et al. Islam and termination of pregnancy for genetic conditions in Pakistan: implications for Pakistani health care providers. Prenat Diagn. 2012;32:1218–20.

    CAS  PubMed  Google Scholar 

  173. El-Beshlawy A, El-Shekha A, Momtaz M, et al. Prenatal diagnosis for thalassaemia in Egypt: what changed parents’ attitude? Prenat Diagn. 2012;32:777–82.

    CAS  PubMed  Google Scholar 

  174. Alsulaiman A, Hewison J. Attitudes to prenatal testing and termination of pregnancy in Saudi Arabia. Community Genet. 2007;10:169–73.

    PubMed  Google Scholar 

  175. Afolayan JA, State K, Jolayemi FT. Parental attitude to children with sickle cell disease in selected health facilities in Irepodun Local Government, Kwara State, Nigeria. Stud Ethno-Med. 2011;5:33–40.

    Google Scholar 

  176. Moronkola OA, Fadairo RA. University students in Nigeria: knowledge, attitude toward sickle cell disease, and genetic counseling before marriage. Int Q Community Health Educ. 2007;26:85–93.

    CAS  Google Scholar 

  177. Bhardwaj M, Macer DR. Policy and ethical issues in applying medical biotechnology in developing countries. Med Sci Monit. 2003;9:49–55.

    Google Scholar 

  178. Lynch HT, Aldoss I, Lynch JF. The identification and management of hereditary diffuse gastric cancer in a large Jordanian family. Fam Cancer. 2011;10:667–72.

    PubMed  Google Scholar 

  179. Zounon O, Anani L, Latoundji S, et al. Misconceptions about sickle cell disease (SCD) among lay people in Benin. Prev Med. 2012;55:251–3.

    PubMed  Google Scholar 

  180. Nordling L. How the genomics revolution could finally help Africa. Nature. 2017;544:20–2.

    CAS  PubMed  Google Scholar 

  181. Folarin OA, Happi AN, Happi CT. Empowering African genomics for infectious disease control. Genome Biol. 2014;15:515.

    PubMed  PubMed Central  Google Scholar 

  182. H3Africa Consortium, Rotimi C, Abayomi A, et al. Research capacity. Enabling the genomic revolution in Africa. Science. 2014;344:1346–8.

  183. World Health Organization (2011). Community genetics services : report of a WHO consultation on community genetics in low- and middle-income countries. Geneva : World Health Organization. http://www.who.int/iris/handle/10665/44532

  184. Viswanathan M, Kraschnewski JL, Nishikawa B, et al. Outcomes and costs of community health worker interventions. Med Care. 2010;48:792–808.

    PubMed  Google Scholar 

  185. Kim K, Choi JS, Choi E, et al. Effects of community-based health worker interventions to improve chronic disease management and care among vulnerable populations: a systematic review. Am J Public Health. 2016;106:e3–28.

    PubMed  PubMed Central  Google Scholar 

  186. Khan N Community engagement and education: addressing the needs of South Asian families with genetic disorders. J Community Genet 2016;7:317-323.

  187. Roberts LR, Jadalla A, Jones-Oyefeso V, et al. Researching in collectivist cultures. J Transcult Nurs. 2017;28:137–43.

    PubMed  Google Scholar 

  188. McLaughlin LA, Braun KL. Asian and Pacific islander cultural values: considerations for health care decision making. Health Soc Work. 1998;23:116–27.

    CAS  PubMed  Google Scholar 

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Acknowledgements

The authors wish to acknowledge Cheri Nickel (Information Scientist; The Hospital for Sick Children) for her assistance in developing the search strategy. We also thank members of our End-User Committee who have consulted during various stages of the study: Dr. Lucy Njambi (Kenya), Dr. Pamela Astudillo (Philippines), Dr. Luciana Campi Auresco (Brazil), Dr. Jaime Jessen (Canada), Abby White (World Eye Cancer Hope, UK), and Dr. Ella Bowles (Canada). Adrina Zhong was supported by the Dr. James Rossiter MPH Practicum Award (Canadian Institute for Health Research) and Dr. Arnold Noyek Legacy Fund Award in Global Health (University of Toronto).

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Zhong, A., Darren, B., Loiseau, B. et al. Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review. Genet Med 23, 2270–2280 (2021). https://doi.org/10.1038/s41436-018-0090-9

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  • DOI: https://doi.org/10.1038/s41436-018-0090-9

Keywords

  • Global health
  • Genetics
  • Genetic testing
  • Genetic counseling
  • Low- and middle-income countries

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