Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis
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Abstract Currently, there is no consensus regarding services required to help families with consanguineous marriages man- age their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous mar- riage 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 finding 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 commu- nity. 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 consis- tent 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 mar- riage and recessive disorders. A communication tool we de- veloped and piloted is described and offered as a useful re- source for communicating complex genetic information.