Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective

Abstract

WHO advice suggests a family-centred approach for managing the elevated risk of recessively inherited disorders in consanguineous communities, whilst emerging policy recommends community engagement as an integral component of genetic service development. This paper explores the feasibility of the family-centred approach in the UK Pakistani origin community. The study took place within a context of debate in the media, professional and lay circles about cousin marriage causing disability in children. Using qualitative methods, a total of six single-sex focus group discussions (n050) were conducted in three UK cities with a high settlement of people of Pakistani origin. Tape-recorded transcripts were analysed using framework analysis. Kinship networks within Pakistani origin communities are being sustained and marriage between close blood relatives continues to take place alongside other marriage options. Study participants were critical of what was perceived as a prevalent notion that cousin marriage causes disability in children. They were willing to discuss cousin marriage and disability, share genetic information and engage with genetic issues. A desire for accurate information and a public informed about genetic issues was articulated whilst ineffective communication of genetic risk information undermined professionals in their support role. This study suggests a community that is embracing change, one in which kinship networks are still active and genetic information exchange is taking place. At the community level, these are conditions supportive of the family-centred approach to genetic testing and counselling.

UK Pakistani views on the adverse health risks associated with consanguineous marriages

“…Another reason for being sceptical about the evidence on consanguineous marriages and genetic risk, as suggested from the participant responses, is the stigma associated with genetic conditions related to cousin marriage may force consanguineous couples to either refute genetic information or not relay the information to immediate family and the wider community (Bywaters et al 2003;Croot et al 2008;Paul and Spencer 2008;Shaw and Hurst 2009) thus preventing dissemination of information on genetic risk related to consanguinity, a fact corroborated by the local genetic counsellor serving the area (Ajaz 2013). This would appear to be different from the findings in areas like Bradford and Birmingham, where genetic risk information is being discussed in communities through familial network and has been successful in dissemination of this knowledge (Darr et al 2013). The opposition in Luton is based on the fact that the discussion of genetic risk and consanguinity is in its infancy.…”

“…The impact of local social determinants that may play a role in increasing health inequalities, including a bearing on infant mortality and stillbirth rates (Guildea et al 2001;Olsen and Madsen 1999;Wagstaff 2000;Weightman et al 2012), remains unexplored to date. As the discussions on consanguinity and genetic risk in Luton are just evolving, it is unclear yet if a wide ranging community approach or a more targeted family approach to promoting health information on genetic risk (Darr et al 2013) will be successful. The situation in Luton calls for community engagement and increasing awareness on genetic risk and consanguinity in conjunction with local health care service providers and religious leaders.…”

“…Evidence highlights a 2-3 % risk of genetic disorders in children of unrelated couples which goes up to 4-6 % in children of consanguineous couples and a strong association with rise in autosomal recessive disorders (Bennett et al 2002;Darr et al 2013;Hamamy et al 2011;). While most people with recessive genes show no signs of disease due to the presence of at least one healthy copy of the gene, a person who inherits two copies of the same rare recessive gene variant will express the disease (Bittles 2010a).…”

“…Studies exploring genetic risk perceptions found opposition to existing evidence by the community, which was perceived as contributing towards anti-Muslim sentiment (Ali et al 2008. These studies have not only tried to explore the genetic impact of consanguineous marriages but also have tried to identify approaches to improving information on consanguinity and genetic risk (Darr et al 2013). A community based or family-based approach is being offered as best practice to improve genetic services and information delivery to Pakistani/Kashmiri communities, aiming to utilise the exchange of information within extended familial networks (Darr et al 2013) in Leeds/Bradford.…”

“…These studies have not only tried to explore the genetic impact of consanguineous marriages but also have tried to identify approaches to improving information on consanguinity and genetic risk (Darr et al 2013). A community based or family-based approach is being offered as best practice to improve genetic services and information delivery to Pakistani/Kashmiri communities, aiming to utilise the exchange of information within extended familial networks (Darr et al 2013) in Leeds/Bradford. The success of such initiatives rests on local contexts of knowledge about consanguinity and genetic risk and the community's willingness to accept and address adverse health impacts (Salway et al 2012).…”