Abstract
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.
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Notes
This paper deals with autosomal recessive disorders. For brevity, we refer to these as recessive disorders throughout the article.
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.”
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Acknowledgments
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).
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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). https://doi.org/10.1007/s12687-015-0252-2
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DOI: https://doi.org/10.1007/s12687-015-0252-2