Skip to main content
Log in

Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis

  • Original Article
  • Published:
Journal of Community Genetics Aims and scope Submit manuscript


Currently, there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, firstly, that family networks hold strong potential for cascading genetic information, making the adoption of a family-centred approach an efficient strategy for this community. However, this is dependent on provision of high-quality and timely information from health care providers. Secondly, families’ experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals’ views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7

Similar content being viewed by others


  1. This paper deals with autosomal recessive disorders. For brevity, we refer to these as recessive disorders throughout the article.

  2. Impairment is increasingly used in place of disability in social science/social care contexts. For example, the Union of the Physically Impaired Segregation (1976 as quoted in Winter 2003) defined physical impairment as the condition of a person “lacking part or all of a limb, organ or mechanism of a person” and disability as the “disadvantage or restriction of activity caused by a contemporary social organization which excludes people with physical impairments from participation in the mainstream of social activities.”


  • Ahmad WIU, Atkin K, Chamba R (2000) “Causing havoc to their children”: parental and professional perspectives on consanguinity and childhood disability. In: Ahmad WIU (ed) Ethnicity. Open University Press, Disability and Chronic Illness, Buckingham

    Google Scholar 

  • Ahmad W IU, Bradby H (2007) Locating ethnicity and health: exploring concepts and contexts. Sociol Health Ill 29(6):795–810, ISSN 0141-9889

  • Ahmed S, Saleem M, Modell B, Petrou M (2002) Screening extended families for genetic counselling for genetic haemoglobin disorders in Pakistan. N Engl J Med 347(15):1162–1168

    Article  PubMed  Google Scholar 

  • Allford A, Qureshi N, Barwell J, Lewis C, Kai J (2014) What hinders minority ethnic access to cancer genetic services and what may help? Eur J Hum Genet 22(7):866–874. doi:10.1038/ejhg.257

    Article  PubMed  PubMed Central  Google Scholar 

  • Alwan A, Modell B (1997) Community control of genetic and con- genital disorders. EMRO technical publication series 24. WHO Regional Office for the Eastern Mediterranean Region, Cairo

  • Atkin K, Ahmad WIU, Anionwu EN (1998) Screening and counselling for sickle cell disorders and thalassaemia: the experience of parents and health professionals. Soc Sci Med 47:1639–51

    Article  PubMed  CAS  Google Scholar 

  • Anionwu EN, Atkin K (2001) The Politics of Sickle Cell and Thalassaemia. Buckingham, Open University Press

  • Baird PA, Anderson TW, Newcombe HB, Lowry RB (1988) Genetic disorders in children and young adults: a population study. Am J Hum Genet 42:677–693

    PubMed  CAS  PubMed Central  Google Scholar 

  • Bhopal R, Petherick E, Wright J, Small N (2013) Potential social, economic and general health benefits of consanguineous marriage: results from the Born in Bradford cohort study. Eur J Pub Health. doi:10.1093/eurpub/ckt166

    Google Scholar 

  • Bittles AH (1990) Consanguineous marriage: current global incidence and its relevance to demographic research. Research report no. 90-186, Population Studies Center, University of Michigan. Data available at

  • Bittles AH (2012) Consanguinity in Context. Cambridge University Press, New York, NY

    Book  Google Scholar 

  • Bundey S, Alam H (1993) A five-year prospective study of the health of children in different ethnic groups with particular reference to the effect of inbreeding. Eur J Hum Genet 1:206–219

    PubMed  CAS  Google Scholar 

  • Darr A (1991). The Social Implications of Thalassaemia among Muslims of Pakistani Origin in England — Family Experience and Service Delivery.Ph.D. thesis, Univ. London

  • Darr A (1997) Consanguineous marriage and genetics: a positive relationship. In Clarke A and Parsons E (eds) Culture, Kinship and Genes: towards cross cultural genetics. Basingstoke, Macmillan

  • Darr A (2009) Cousin marriage, culture blaming and equity in service delivery. Divers Equality Health Care 6:7–9

    Google Scholar 

  • Darr A, Small N, Ahmad WIU, Atkin A, Corry P, Benson J, Morton R (2012) Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective. J Community Genet 4(1):49–57

    Article  PubMed  PubMed Central  Google Scholar 

  • Department of Health (2010) Tackling health inequalities in infant and maternal health outcomes. Report of the Infant Mortality National Support Team. Dec 2012

  • Department of Health (2012) Building on our inheritance: genomic technology in healthcare. Human Genomics Strategy Group, Department of Health 132369

  • Dyson S (2007) Knowledge of sickle cell in a screened population. Health and Soc Care Community 5(2):84–93

    Article  Google Scholar 

  • Forrest LE, Delatycki MB, Skene L, Aitken MA (2007) Communicating genetic information in families—a review of guidelines and position papers. Eur J Hum Genet. doi:10.1038/sj/ejhg.5201822

    PubMed  Google Scholar 

  • Gaff C, Clarke A, Atkinson P, Sivell S, Elwyn G, Iredale R, Thornton H, Dundon J, Shaw C, Edwards A (2007) Process and outcome in communication of genetic information within families: a systematic review. Eur J Hum Genet 15:999–1011. doi:10.1038/sj.ejhg.5201883

    Article  PubMed  Google Scholar 

  • Haslam J (2001) Harsh troth. The Guardian

  • Kai J, Beavan J, Faull C, Dodson L, Gill P, Beighton A (2007) Professional uncertainty and disempowerment responding to ethnic diversity in health care: a qualitative study. PLoS medicine 4(11):e323, info%3Adoi%2F10.1371%2Fjournal.pmed.0040323

  • Khan N, Benson J, MacLeod R, Kingston H (2010) Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families. J Community Genet, June 1(2):73-81. doi: 10:007/s12687-010-0012-2

  • Krawczak M, Cooper DN, Schmidtke J (2001) Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum Genet 2:361–370

  • Modell B, Darr A (2002) Genetic counselling and customary consanguineous marriage. Nat Rev Genet 3:225–229

    Article  PubMed  CAS  Google Scholar 

  • Ritchie J, Spencer L (1994) Qualitative data analysis for applied policy research. In: Bryman A, Burgess R (eds) Analysing qualitative data. Routledge, London, pp 173–194

    Chapter  Google Scholar 

  • Samavat A, Modell B (2004) Iranian national thalassaemia screening programme. BMJ 329:1134–1137

    Article  PubMed  PubMed Central  Google Scholar 

  • Shaw A, Hurst A (2009) “I don’t see any point in telling them”: attitudes to sharing information in the family and carrier testing of relatives among British Pakistani adults. Ethn Health 14(2):205–24. doi:10.1080/13557850802071140

    Article  PubMed  Google Scholar 

  • Sheridan E, Wright J, Small N, Corry P, Oddie S, Whibley C, Petherick E, Malik T, Pawson N, McKinney P, Parslow R 2013 Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study. The Lancet published online July 4th

  • Wertz D, Fletcher JC, Mulvihill JJ (1990) Medical geneticists confront ethical dilemmas: cross cultural comparisons among 18 nations. Am J Hum Genet 46:1200–13

    PubMed  CAS  PubMed Central  Google Scholar 

  • Winter JA (2003) The development of the Disability Rights Movement as a social problem solver. Disability Studies Quarterly 23(1):33–61

    Google Scholar 

  • Wright J, Small N, Raynor P, on behalf of the Born in Bradford Scientific Collaborators Group et al (2012) Cohort profile: the Born in Bradford multi-ethnic family cohort study. Int J Epidemiol. doi:10.1093/ije/dys112

    PubMed  Google Scholar 

Download references


We wish to thank the study participants and members of the project advisory committee. We also thank the two anonymous reviewers for their useful comments and suggestions.

Compliance with Ethical Standards

All study participants gave written consent before taking part in focus group discussions and interviews.

This research was funded by a Department of Health research grant (Health Services Research Programme).

Author information

Authors and Affiliations


Corresponding author

Correspondence to A. Darr.

Electronic supplementary material

Below is the link to the electronic supplementary material.


(DOC 43 kb)


(DOC 27 kb)


(DOC 35 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Darr, A., Small, N., Ahmad, W.I.U. et al. Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis. J Community Genet 7, 65–79 (2016).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: