Fear, inadequate knowledge, and assumptions about cultural beliefs, result in missed opportunities to support access to genetic counselling, say Naz Khan and Sarah Salway
The practice of marrying close blood relatives has received intermittent, largely unhelpful, attention within UK health policy circles over past decades. Rather than conveying the increased genetic risk accurately, the tendency has been to sensationalise the issue and stigmatise those at risk. Media attention has further stoked blame and distortion. Our experience from clinical practice and research highlight the need to view this as a healthcare inequality issue. We need to address the persistent unmet need for genetic services that many families experience.
Close relative marriage—often marriage between cousins—is common around the world. It is also preferred among some families and communities in the UK. The largest group affected is those identifying as Pakistani/British Pakistani. Since blood relatives are more likely to carry the same gene variants than unrelated people, a higher incidence of autosomal recessive genetic disorders ensues. This manifests as higher population rates of congenital abnormality, infant and child mortality. The risk of any congenital abnormality is around 6 per 100 births, compared to 3 per 100 births for unrelated couples. This increased risk is similar to that associated with older age childbearing; a reproductive choice prevalent among White British women.  Importantly, genetic risk clusters in families. Around 8 out of 10 cousin couples are not at any increased risk. 
We have been working to improve access to genetic services for those families affected with these genetic disorders for over 10 years. Qualitative studies and local population-based surveys reveal poor understanding of the levels and patterns of risk among the general population. Unfamiliarity with genetic services, and the options they present, is common. It is also clear that the cascading of information among family members where harmful gene traits have been identified is often poor. Multiple, unanticipated affected births (and deaths) often occur in the same family.
Naz’s clinical experience confirms that those affected utilise genetic services when offered. Family members are keen to access information. Provision of genetic counselling with a sensitivity towards the patients’ cultural context can be empowering. This requires imparting medical knowledge while appreciating how such new information may be accommodated alongside existing understandings. Currently, many families are not being offered referrals to genetic services by professionals at primary or secondary level. Referrals are crucial, as affected individuals are often unaware of what genetic services can offer. In the words of participants in a recent consultation exercise: “How can we ask for something when we do not know it exists?” Health professionals have a responsibility to ensure these families have the knowledge to make informed reproductive decisions. However, fear of being culturally insensitive, inadequate knowledge, and assumptions about religious and cultural beliefs, result in many missed opportunities to support access to genetic counselling.
Our engagement work at a community level also demonstrates that many people have an appetite for improved knowledge. Yet, while in a few places genetic literacy has been incorporated into healthy pregnancy promotion work, this is by no means universal. Furthermore, several initiatives have been poorly designed and short lived.
These current healthcare and public health shortcomings are a manifestation of a system that struggles to accommodate diverse health needs and questions minority ethnic entitlements to healthcare.
In recent months we have seen some promising signs of change. There is a growing consensus that this issue must be seen fundamentally as one of healthcare inequality. We have also witnessed increased interest at regional and national level within the Maternity Transformation Programme. We need to see a similar response from those responsible for the redesign of clinical genetic services. As genomic medicine advances, a much wider range of options will become available to individuals and couples. This makes it even more important that we strive for equitable access to genetic services.
While we await such policy shifts to materialise, individual healthcare professionals can do more. We must take every opportunity to enhance genetic literacy and increase access to genetic services for those who remain under-served. Genetic professionals must also ensure a culturally competent service. Informed reproductive decision-making should not be the preserve of a sub-set of the population.
Naz Khan, Principal Genetic Counsellor, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust
Sarah Salway, Professor of Public Health, University of Sheffield and Public Health England (Honorary)
Competing interests: None declared
- Sheridan, E, Wright, J, Small, N et al. Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study, The Lancet, 382, 9901,2013, 1350-1359,https://doi.org/10.1016/S0140-6736(13)61132-0
- Modell, B., Darr, A. Genetic counselling and customary consanguineous marriage. Nat Rev Genet 3, 225–229 (2002). https://doi.org/10.1038/nrg754
- Salway S, Yazici E, Khan N, et al. How should health policy and practice respond to the increased genetic risk associated with close relative marriage? results of a UK Delphi consensus building exercise. BMJ Open 2019;9:e028928. doi: 10.1136/bmjopen-2019-028928