title: Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.
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.
authors.affiliation: School of Health Studies, University of Bradford, Richmond Rd, Bradford, BD7 1DP, UK. a.r.darr@bradford.ac.uk.
authors.forename: A
authors.initials: A
authors.lastname: Darr
authors.affiliation: School of Health Studies, University of Bradford, Richmond Rd, Bradford, BD7 1DP, UK.
authors.forename: N
authors.initials: N
authors.lastname: Small
authors.affiliation: Middlesex University, The Boroughs, Hendon, London, NW4 4BT, UK.
authors.forename: W I U
authors.initials: WI
authors.lastname: Ahmad
authors.affiliation: Department of Health Sciences, University of York, Seebohm Rowntree Building, Heslington, York, YO10 5DD, UK.
authors.forename: K
authors.initials: K
authors.lastname: Atkin
authors.affiliation: Child Development Centre, Horton Wing, St Luke's Hospital, Little Horton Lane, Bradford, BD5 ONA, UK.
authors.forename: P
authors.initials: P
authors.lastname: Corry
authors.affiliation: UCL Centre for Informatics and Multiprofessional Education (CHIME), The Farr Institute of Health Informatics Research London, University College London, 222 Euston Rd, London, London, NW1 2DA, UK.
authors.forename: B
authors.initials: B
authors.lastname: Modell
keywords: British Pakistanis; Consanguinity; Family-centred approach; Genetic communication; Recessive disorders