Abstract
Blackburn with Darwen Primary Care Trust (PCT) provides services to a substantial Asian population in which the practice of consanguineous marriage is common and there is a high incidence of autosomal recessive disorders. The aim was to provide and evaluate a genetic service accessible to consanguineous families from the South Asian community who had a child affected by an autosomal recessive disorder. Information on genetic risk was provided along with the offer of genetic testing for members of the extended family to identify gene carriers and facilitate informed reproductive choices. An Urdu-speaking health visitor was employed to establish a community-based, hospital-linked genetic service in conjunction with local paediatric and regional genetic services offered to parents who had an affected child and 71 of their relatives. The service was evaluated using a specifically designed questionnaire. There was a high uptake of the service (95% of index parents and 92% of relatives to whom it was offered) and a high uptake of carrier testing (94% of relatives to whom it was offered). Eight requests for prenatal diagnosis were made during the course of the service development. Many individuals stated they would consider genetic risk when making future marriage and reproductive plans. Input from a health care worker from the same ethnic background who provided information in their own language was highly valued. Family orientated genetic services for ethnic groups practicing consanguinity can be acceptable and effective when provided in a culturally appropriate manner.
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References
Ahmed S, Saleem M, Modell B, Petrou M (2002) Screening extended families for genetic haemoglobin disorders in Pakistan. New Eng J Med 347(15):1162–1168
Barlow-Stewart K, Yeo SS, Meiser B, Goldstein D, Tucker K, Eisenbruch M (2006) Towards cultural competence in cancer genetic counseling and genetics education: lessons learned from Chinese-Australians. Genet Med 8(1):24–32
Benson J (2005) Recessive disorders and consanguineous marriage. BMJ (letter) 331:1475
Benson J, Kowariwala S (2002) Recessive Disorders in the Blackburn Asian ethnic minority community: families' response to genetic information. Unpublished
Bittles AH (1998) Empirical estimates of the global prevalence of consanguineous marriage in contemporary society. Morrison institute for population and resource studies. Stanford University, California
Bittles AH (2003) Consanguineous marriage and childhood health. Dev Med Child Neurol 45(8):571–576
Bittles AH, Mason WM, Greene J, Rao NA (1991) Reproductive behaviour and health in consanguineous marriages. Science 252:789–794
Bittles AH, Grant JC, Shami SA (1993) Consanguinity as a determinant of reproductive behaviour and mortality in Pakistan. Int J Epidemiology 22(3):463–467
Browner CH, Preloran HM, Casado MC, Bass HN, Walker AP (2003) Genetic counseling gone awry: miscommunication between prenatal genetic service providers and Mexican-origin clients. Soc Sci Med 56(9):1933–1946
Bundey S, Aslam H (1993) A five-year prospective study of the health of children in different ethnic groups with particular reference to the effects of inbreeding. Eur J Hum Genet 1:206–219
Bundey S, Alam H, Kaur A, Mir S, Lancashire RJ (1990) Why do UK Pakistani babies have a higher perinatal and neonatal mortality rates? Paed Perinatal Epid 5:101–114
Christianson A, Modell B (2004) Medical genetics in developing countries. Annu Rev Genom Hum Genet 5:219–265
Christianson A, Howson C, Modell B (2006) March of Dimes global report on birth defects: the hidden toll of dying and disabled children. March of Dimes, New York
Darr A, Modell B (1988) The frequency of consanguineous marriage among British Pakistanis. J Med Genet 25:186–190
Dawodu A, Al-Gazali L, Varady E, Varghese M, Nath K, Rajan (2005) Genetic contribution to high neonatal lethal malformation rate in the United Arab Emirates. Commun Genet 8(1):31–34
Department of Health (2003) Our inheritance, our future: realizing the potential of genetics in the NHS. Genetics White Paper, HMSO, UK
Devi AR, Rao NA, Bittles AH (1987) Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India. J Med Genet 24:362–365
Grant JC, Bittles AH (1997) The comparative role of consanguinity in infant and childhood mortality in Pakistan. Ann Hum Genet 61:143–149
Harper PS (2004) Practical Genetic Counseling, 6th edn. Arnold Publishers, Oxford
Khoury SA, Massad DF (2000) Consanguinity, fertility, reproductive wastage, infant mortality and congenital malformations in Jordan. Saudi Med J 21(2):150–154
Modell B, Darr A (2002) Genetic counseling and customary consanguineous marriage. Nat Rev Genet 3:225–229
Mokhtari R, Bagga A (2003) Consanguinity, genetic disorders and malformations in the Iranian population. Acta Biol Szeged 47(1–4):47–50
Shaw A, Hurst JA (2008) “What is this genetics, anyway?” Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services. J Genet Couns 17:373–383
Stoltenberg C, MagnusP SA, Lie RT (1999) Consanguinity and recurrence risk of birth defects: a population-based study. Am J Med Genet 82(5):423–428
Terry PB, Bissenden JG, Condie RG, Matthew PM (1985) Ethnic differences in congenital malformations. Arch Dis Child 60:866–868
Tunçbilek E (2001) Clinical outcomes of consanguineous marriages in Turkey. Turk J Pediatr 43(4):277–279
Wang OV (2001) Multicultural genetic counseling: then, now and in the 21st century. Am J Med Genet 106:208–215
WHO (1996) Empirical estimates of the global prevalence of consanguineous marriage in contemporary society. Paper No 74 morrison institute for population and resource studies, Stanford University, California
WHO (1996) Control of hereditary diseases. WHO Technical Report Series 865. WHO Geneva, Switzerland
WHO (2000) Primary Health care Approaches for the prevention and control of congenital and genetic disorders. Report of a WHO meeting, Cairo, Egypt Downloaded from WHO/HGN/WG/00.1
Yoong SY, Feltbower R, Spencer N, Mckinney PA (2005) Families affected by deafness: hospital services uptake in a multiethnic population. Arch Dis Child 90:454–459
Young ID, Clarke M (1987) Lethal malformations and perinatal mortality: a 10-year review with comparison of ethnic differences. BMJ 295:89–91
Acknowledgements
We wish to thank the family members who responded to the service development evaluation questionnaire and the members of the service development steering group who were not directly involved in providing the service (Sue Mather, Vanessa Hollings, Alison Rutter, Safira Ismail and Dr. Fiona Ford). This work was funded by a DH White Paper service development grant and the research group is supported by the Manchester NIHR Biomedical Research Centre.
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Khan, N., Benson, J., MacLeod, R. et al. Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families. J Community Genet 1, 73–81 (2010). https://doi.org/10.1007/s12687-010-0012-2
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DOI: https://doi.org/10.1007/s12687-010-0012-2