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CURATOR
A pinboard by
Meghan Cupp

Research Associate (Hons.), UCL

PINBOARD SUMMARY

This qualitative study utilised focus group discussions to identify emergent themes on consanguinity

Why: Consanguinity refers to relationships between blood relatives. Consanguineous relationships are common throughout the world and present potential health risks to children's health. Consanguineous unions increase the risk of children being diagnosed with genetic disorder which may lead to disease. Consanguinity has been linked to some South Asian and Middle Eastern populations, particularly those of Asian Pakistani descent. The aim of this study was to explore perceptions of consanguinity through the experiences and opinions of women from the South Asian and Middle Eastern communities in a London Borough.

How: We recruited an estimated 200 women from the South Asian and Middle Eastern community living in the London Borough of Newham. These women were selectively approached by a community facilitator and invited to attend the focus group. The focus group consisted of a brief presentation on consanguinity and the delivery of nine structured discussion questions discussed among four small groups. A facilitator was assigned to each group in order to transcribe participant responses. Responses were carefully reviewed in order to identify reoccurring theme discussed by participants.

What we learned: Ultimately 36 women attended, of whom 20 identified as Asian Pakistani. Women were generally aware of consanguinity in their communities, but few had an understanding of the link between consanguinity and genetic disease. The theme of choice reoccurred in the focus group discussions. The identified barriers to receiving information included cultural factors, religion and pressure from relatives.

Why this study matters: This focus group highlighted the need for improved awareness of the health risks associated with consanguinity. Women were receptive to the topic and called for more information about awareness and the accessibility of services to be distributed. We recommend further engagement and the provision of information on consanguinity amongst local communities.

6 ITEMS PINNED

Fifteen years of genetic testing from a London developmental clinic.

Abstract: To evaluate genetic disease among children referred to a community paediatric clinic.Retrospective cohort study.Community paediatric clinic, Tower Hamlets, London.All patients seen for first time in the Child Development Team (CDT) clinic between 1999 and 2013.Clinical notes were reviewed. Genetic test results were obtained. Exploratory Excel analysis was performed. Patients without an identified genetic disorder were labelled 'more likely genetic cause' if they had at least two out of three risk factors: developmental delay, congenital abnormality or parental consanguinity, and 'unlikely genetic cause' if they had one or no risk factors, or an obvious alternative cause.Prevalence of genetic diagnoses and parental consanguinity, undertaking of genetic tests, predicted likelihood of a genetic cause among unsolved patients.749 patients were included. 404 (53.9%) had undergone genetic testing and 158 of those tested (39.1%) had a confirmed genetic diagnosis. Parental relatedness was documented in 461 patients, of which 128 (27.8%) had first-cousin parents. The number of patients undergoing genetic testing increased over time. Aneuploidies and syndromic/Mendelian disorders were most common. Of the 591 patients without a genetic diagnosis, 29.9% were classified 'more likely genetic cause'. Patients with consanguineous parents were significantly more likely to have a diagnosed genetic disorder than those with non-consanguineous parents (43/128 vs 72/333), particularly an autosomal recessive condition (27/43 vs 6/72).Genetic disease was common and genetic testing is important in evaluating children in this clinic. Consanguinity increases the likelihood of autosomal recessive disease.

Pub.: 01 Jul '17, Pinned: 31 Jan '18

The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring.

Abstract: This study aims to define the relative risk of development of hearing loss in offspring of consanguineous marriages.This is a retrospective case-control study conducted in a tertiary referral center in Jeddah, KSA. The study group included 1600 probands (848 males, 752 females), with age range 0.5-12 years (6.6 ± 3.6). The study group comprised of two equal, age and sex matched subgroups; Hearing Loss (HL) group and Normal Hearing (NH) group. The children included in the HL group should have idiopathic or non syndromic genetic sensorineural hearing loss.The HL Group comprised 800 children with variable degrees of sensorineural hearing loss. Profound and severe degrees of hearing loss were the most prevalent degrees (P <0.05%). The prevalence of consanguineous marriage offspring in the NH group was 42.5%, while in the HL group it was 68.9% (P < 0.05). The differences between both study subgroups regarding the distribution of different degrees of parental consanguinity (first, second, double first, and first once removed cousins) were insignificant (P > 0.05). The relative risk and 95% confidence interval (RR, 95% CI) for development of hearing loss in offspring of consanguineous marriage was 1.76 (95% CI 1.57-1.97, P < 0.001).There was 76% increased risk for consanguineous marriage progeny to develop SNHL when compared to non consanguineous progeny.

Pub.: 02 Oct '17, Pinned: 31 Jan '18

A Study of Effect of Consanguinity on Cochlear Morphology in Patients with Congenital Bilateral Profound Sensorineural Hearing Loss

Abstract: Consanguinity has been considered as one of the risk factors predisposing to the development of congenital hearing loss. Effect of consanguinity on cochlear morphology has been subject of speculation, though many studies have provided insight into functional aspect of cochlea. This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted. Seven children born out of consanguineous marriages and having bilateral congenital sensorineural hearing loss were imaged for their inner ears by MRI and various cochlear measurements were compared with that of seven control children born out of non-consanguineous marriages and who had congenital bilateral sensorineural hearing deafness. No statistically significant differences were noticed in the measurements of mean cochlear length, cross sectional diameter of cochlea at apex, middle turn and at basal turns; between children born of consanguineous and non-consanguineous marriages. Study revealed normal cochlear morphology in all the children born out of consanguineous marriages. Consanguinity, as a risk factor for development of sensorineural hearing loss, may not result in gross structural anomaly of cochlea. The genetic testing of these patients need not be extensive and can be limited to selective screening of genes responsible for functioning of cochlea rather than its anatomical development.

Pub.: 10 Oct '17, Pinned: 31 Jan '18

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.

Pub.: 14 Sep '15, Pinned: 31 Jan '18

Community engagement and education: addressing the needs of South Asian families with genetic disorders.

Abstract: Consanguineous marriage is common among the South Asian heritage community in the UK. While conferring social and cultural benefits, consanguinity is associated with an increased risk of autosomal recessive disorders and an increase in childhood death and disability. We have previously developed a genetic service to address the needs of this community. We report the extension of this service to include community-based initiatives aimed at promoting understanding of genetic issues related to consanguinity and improving access to genetic services. Our approach was to develop integrated clinical, educational and community engagement initiatives that would be sustainable on a long-term basis. The service provided for South Asian families by a specialist genetic counsellor was extended, and a series of genetics education and awareness sessions were provided for a diverse range of frontline healthcare workers. Two community genetic outreach worker posts were established to facilitate the engagement of the local South Asian population with genetics. The education and awareness sessions helped address the lack of genetic knowledge among primary health care professionals and community workers. Engagement initiatives by the genetic outreach worker raised awareness of genetic issues in the South Asian community and families affected by autosomal recessive disorders. All three elements of the extended service generated positive feedback. A three-stranded approach to addressing the needs of consanguineous families affected by autosomal recessive disorders as recommended by the World Health Organisation is suggested to be an acceptable, effective and sustainable approach to delivery of service in the UK.

Pub.: 12 Sep '16, Pinned: 31 Jan '18

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

Abstract: This is a qualitative study exploring the perceptions of members from the Pakistani/Kashmiri community living in Luton, UK, on the adverse health risks associated with consanguineous marriages. Rates of stillbirths and infant mortality are higher than the national average in Luton and the existing evidence base suggests that these higher rates may be associated with consanguinity (especially first cousin marriages) in highly consanguineous populations, such as the Pakistani/Kashmiri ethnic group. This qualitative study included 9 focus groups and 10 one to one in-depth interviews (n = 58) with members from the Pakistani/Kashmiri community in Luton during 2012. Audio-recorded transcripts were analysed using framework analysis. Emerging themes included a limited knowledge, opposition to evidence and need for a more culturally sensitive health services approach. Findings from the focus group and interview discussions indicated that participants had a limited and varied understanding of genetic risk and indicated a lack of discussion within the community regarding genetic risk. They also opposed evidence that may link consanguineous marriages with infant mortality, stillbirth or genetic disorders that led to disability. The participants stressed the need for culturally sensitive and locally constructed services for information on genetic risk and services. These findings may be used to address higher rates of infant mortality and adverse health impacts associated with higher rates of consanguinity in Luton and elsewhere, through a partnership approach, improve upon current services and develop culturally appropriate services.

Pub.: 07 Feb '15, Pinned: 31 Jan '18