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Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis
Darr, Aliya Small, Neil A. Ahmad, Waqar I-U. Atkin, K. Corry, P.C. Modell, B.
Darr, Aliya
Small, Neil A.
Ahmad, Waqar I-U.
Atkin, K.
Corry, P.C.
Modell, B.
Publication Date
2016-01
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(c) 2016 Springer Verlag. Full-text reproduced in accordance with the publisher's self-archiving policy.
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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, first, 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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Darr A, Small NA, Ahmad WIU et al. (2016) Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis. Journal of Community Genetics. 7(1): 65-79.
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