ArticleJournal of community genetics2016
Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.
Article in Journal of community genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Negotiating genetic risk in Indonesia: Development and psychometric evaluation of the knowledge and attitude toward consanguineous marriage instrument in a mixed-methods cross-sectional study.Journal of community genetics · 2026Article
- Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.International journal of molecular sciences · 2025Article
- Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.Genetics in medicine open · 2025Article
- Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.Human genomics · 2024Article
- Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Article
- Mortality, morbidity and educational outcomes in children of consanguineous parents in the Born in Bradford cohort.Wellcome open research · 2024Article
- Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality.Journal of community genetics · 2022Review
- Inborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008-2021).Frontiers in immunology · 2022Article
- Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous population.BMC pediatrics · 2021Article
- Letter to the Editor: Time to update the language of genetics from the nineteenth to the twenty-first century: a response to Schmidtke and Cornel.Journal of community genetics · 2020Article
- Exploring perceptions of consanguineous unions with women from an East London community: analysis of discussion groups.Journal of community genetics · 2020Article
- Article
- Enhancing health literacy through co-design: development of culturally appropriate materials on genetic risk and customary consanguineous marriage.Primary health care research & development · 2019Article
- Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence.Journal of global health · 2018Review
- Lived experiences of Iranian parents of beta-thalassemia children.Journal of multidisciplinary healthcare · 2017Article
- Community engagement and education: addressing the needs of South Asian families with genetic disorders.Journal of community genetics · 2016Article
- Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England.Journal of community genetics · 2016Article
- A Mitochondrial DNA A8701G Mutation Associated with Maternally Inherited Hypertension and Dilated Cardiomyopathy in a Chinese Pedigree of a Consanguineous Marriage.Chinese medical journal · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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