CLAHRC (SY) Inequalities Theme & Genetics Theme

NIHR CLAHRC  for South Yorkshire

Understandings related to consanguineous marriage and genetic risk: Findings from a community level consultation exercise in Sheffield and Rotherham

Sarah Salway, Parveen Ali, Giles Ratcliffe and Serish Bibi

March 2012

     

 

Pakistan Advice  & Community  Association 

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Various approaches to raising community genetic literacy among populations practising consanguineous marriage are evident in England, with significant variety in messages and modes of communication. None have been rigorously evaluated. The appropriateness and effectiveness of any particular approach is likely to depend on a number of local contextual factors including: the educational and demographic profile of the local population; the availability of local partner organisations that are well-trusted by the community and willing to support this agenda; prior investment in community level workers who might be suitable conduits for information; and any history of past intervention, positive or otherwise. To-date there has been no significant intervention at community level in Sheffield or Rotherham on this agenda. There is growing recognition among professionals and the public of the need for better access to reliable information and services. As part of a broader set of activities intended to inform an appropriate and effective service response to this issue in Sheffield and Rotherham, a community-level consultation exercise was undertaken. We conducted interviews and group discussions with Key Informants and community members (around 70 individuals in total across Sheffield and Rotherham; the majority being of Pakistani ethnicity) to gain insights into knowledge and attitudes towards: cousin marriage; infant death and disability; genetic risk; existing and future services. There was consensus that most members of the Pakistani 'community' would recognise significant advantages to marrying within the family. That said, there was evidence of some divergent views and growing objections to cousin marriage among younger, UK-born individuals, particularly men. There was consensus that people would generally not link congenital abnormalities or infant deaths to cousin marriage, offering other explanations instead, and commonly coming to terms with the situation by locating its ultimate cause in Allah's hands. Nevertheless, significant numbers of people are aware of the purported link between cousin marriage and infant death/disability. While some appear to deny the veracity of this claim, others, perhaps a larger proportion, express uncertainty. The consultation suggested that at least some private conversations are underway on this topic, but that significant confusion and partial understanding is the norm. Most respondents were unaware of the existence of genetics counselling services and felt that people would go to their GP if they wanted information on this topic. Reactions to new intervention at community level are likely to be mixed, with some people showing a clear appetite for information and others significant opposition. Establishing trust will be crucial, as will overcoming contestation by presenting clear 'facts and figures' on the rates of death/disability at population level, as well as information on individual risk. Real life stories were felt to be helpful in enhancing trust and knowledge, particularly in relation to services and options. Diversity within the Pakistani population was emphasised, and the consequent need for strategies that are appropriate across gender, education, generation and personal circumstances. Opportunities for repeated exposure to the information will be important e.g. via existing groups that create a safe space and web-based materials to which people can return as-and-when they feel the need. The importance of educating and equipping healthcare professionals alongside community members was emphasised by respondents. 2

1. Background Consanguineous marriage - the practice of marrying close blood relatives, commonly cousins - is customary in many cultures around the world, offering significant social and economic benefits (Modell and Darr, 2002). In the UK, cousin marriage is found occasionally among the majority White British population, but is more common and often preferred among a number of minority ethnic populations; the largest being those who identify as 'Pakistani' or 'British Pakistani'. However, this practice increases the risk of inherited disorders caused by recessive genes. Most people carry one or two gene variants that do not affect their own health but that can potentially cause a recessive disorder (Vogel and Motulsky, 1996). When both partners happen to carry the same recessive variant, each child has a one in four chance of inheriting it from both parents and therefore having the recessive disorder. Partners who are closely related are more likely to carry the same gene variants than unrelated people and therefore face an increased risk that their offspring will be affected by recessive disorders. Accurate estimates of the increased genetic risk associated with consanguinity are hampered by poor data availability. However, the Birmingham Birth Study (Bundey and Aslam, 1993) is widely cited as the best evidence we have of the size of the effect in a UK population. This prospective study reported that among a sample of over 2,000 North European babies the birth prevalence of all congenital disorders was 4.3% (with 0.28% being identified as possible recessive disorders), compared to 7.9% (with around 3% being recessives) among the 956 British Pakistani babies in the study. At a population level, this increased risk translates into higher levels of both infant and child mortality and severe, life-long disability. Clearly, for the families concerned such conditions can have devastating consequences. Nevertheless, it is estimated that only around 20% of UK Pakistani cousin couples are at risk of having a child affected by a recessive genetic disorder (Modell and Darr, 2002), and even when both parents carry the same abnormal gene, the chance of each pregnancy being affected by that condition is 1 in 4. Therefore, most babies born to cousin couples are healthy. Research suggests that many people in the UK at risk of recessive conditions linked to consanguinity have poor or no understanding on which to make informed decisions and commonly have little or no contact with genetics services (Darr, 1999). Recent years have seen growing recognition among health and social care practitioners, service commissioners, as well as patients and the public, of the need to address this gap in service provision. Furthermore, as genetic technologies are developing quickly, there is a growing potential to offer carrier testing and pre-natal diagnosis for even very rare recessive disorders. However, the combination of (1) a highly valued social practice affecting communities that are frequently poorly served by health services and marginalised within wider society, (2) complex patterns of individual and population level risk, and (3) low levels of understanding and awareness among professionals, make this a complex and contentious area of work. International and national expert groups (Modell and Darr, 2002) currently recommend a multi-professional service response that combines three related strands of work: 3

1. Family-centred genetics services for at risk individuals and families (including family tracing and proactive offer of counselling and testing). 2. Training to enhance competence and confidence of health professionals particularly in primary care (to provide information and make appropriate referrals). 3. Activities at community level to raise genetic literacy and encourage uptake of services. However, while a consensus is emerging around the key elements of a service response to this issue, interventions are in their infancy in the UK and important questions remain regarding how such a response can be operationalised effectively in practice. Our own review of services around the country - documented in a separate CLAHRC (SY) report reveals a variety of service responses most including only one or two of the three strands noted above. In relation to interventions at community level aimed at improving understanding of genetic risk and raising awareness of available services, a range of approaches is evident. For instance in Bradford, Children's Centres have been involved and community development workers have been trained to deliver awareness-raising sessions to members of the community via established family support groups and one-to-one sessions for interested individuals. In contrast, in Walsall bespoke community events were held in community venues facilitated by an external expert. Meanwhile, in Blackburn, where enhanced family-centred genetics services are comparatively well-developed, there has to-date been no attempt to intervene at community level and there are concerns about the potential negative impact of such activity. It is also evident that a number of different materials using a range of formats have been developed. For instance, Genetics, Communication & Diversity have developed glossy, spiral-bound booklets combining simple text and colour images designed to be used by professionals and families. Birmingham's 'Enhanced Genetics Services Project' has produced a much shorter leaflet with input from community members to its design, as well as commissioning a detailed piece of insight work (Ali, McClean and Rehman, 2008), and more recently have established a website (www.talkinggenetics.co.uk/ ). NHS Walsall has invested in other media, including a Live Channel advertisement and a drama (though these are not currently being used). Importantly, the tone and content of 'messages' contained in these various materials varies as well as their format and the avenues that have been used for their communication. Clearly, there is no blue-print for this work and to-date there has been little by way of formal evaluation of either the materials or the broader communication strategies. Nevertheless, a number of recurring issues warrant consideration in any future responses, including: a need for clear articulation of the objectives of interventions and what 'success' would look like; potential dangerous blurring of the line between general awareness raising and genetic counselling; generally poor engagement with men; high costs of some available materials; queries/issues being raised by community members that are not addressed in available materials; text-based information being inaccessible to some community members; and variable responses by primary healthcare professionals when individuals respond to information received at community level and seek services.

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Available evidence also strongly suggests that the appropriateness and effectiveness of any particular approach to awareness raising at community level is likely to depend on a number of local contextual factors including: the educational and demographic profile of the local Pakistani population; the availability of local partner organisations that are welltrusted by the community and willing to support this agenda; prior investment in community level workers who might be suitable conduits for information; and whether there is a history of past, unhelpful intervention. Recognising the lack of robust evidence from elsewhere and the need for local-level insight to inform future community-level intervention in Sheffield and Rotherham, a series of consultation activities was undertaken as part of a CLAHRC(SY)-funded set of preliminary scoping studies. This report presents the findings of this small-scale exploratory investigation.

2. Objectives The community consultation work was intended to provide information that could begin to inform a service response to the issue of consanguinity and genetic risk in Sheffield and Rotherham. The work was intended to primarily provide information relevant to the design and implementation of a community-based genetics literacy intervention, but in addition was also expected to provide information of relevance to the other two strands of work identified above. The work focused on the Pakistani population and aimed to explore ongoing 'community conversations' in order to understand: -

attitudes, preferences and practices related to cousin marriage understandings related to infant disability and death; causes and implications current knowledge and awareness related to genetic inheritance, consanguineous marriage and genetic risk awareness and experiences of services likely reactions at community level to interventions aimed at increasing genetic literacy.

Recognising diversity within the local community, we aimed to reveal areas of contention and heterogeneity as well as common themes. We also aimed to identify possible community partners, resources and approaches that could be drawn on to support intervention work and to identify any potential obstacles to successful working.

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3. Methods In order to gather a rich body of data within a short time period, we decided to conduct a series of interviews and discussions with two sets of respondents. First, we identified a number of individuals who we considered to be 'Key Informants' (KI). These were primarily people of Pakistani origin who, by virtue of their professional roles, had frequent and extensive interaction with members of the local Pakistani community and could therefore offer us insights into the prevailing knowledge, attitudes, concerns and 'community conversations'. In practice, these respondents often also offered us reflections on their own or their relatives' circumstances and experiences; a reflection of the fact that this issue has touched most people at some time, to some extent. Our second broad group of respondents were individuals who identified themselves as members of the local Pakistani community, and who were invited to participate in individual interviews or group discussions to offer their own thoughts and experiences on the topic. Community participants were primarily contacted via community-based organisations, though some additional personal networks were also used to access suitable people. In the case of the community members, we used a recorded vignette and a series of prompting questions to encourage the discussion (see Appendix 1 below). For Key Informants the discussion was loosely guided by a set of prompting questions (see Appendix 2 below). Consultation work was undertaken by a team of four, two of whom were of Pakistani ethnicity and able to conduct interviews/discussions in Urdu/Punjabi. Notes were taken during the consultation exercises and typed up later with additional reflections from the team members. A simple framework was developed to organise the information into themes that allowed the team to look both within particular consultation exercises, as well as across the different exercises, to identify areas of consistency or divergence. Information derived from consultation with both sets of respondents was combined to produce the findings presented below, though we do reflect on the responses from Key Informants separately as well, since these individuals may potentially play a supportive role in any future intervention in this area. Table 1 provides a summary of the respondents who participated. Just one organisation in Rotherham refused to take part in the consultation, expressing concerns about the topic focus.

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Table 1: Summary of respondents Key Informants* Rotherham Sheffield Male Female

4 14 6 12 Total =18

*Mix of UK- and Pakistan-born. Variety of professional roles. Included four non-Pakistani GPs serving a practice population with high Pakistani population who engaged in a brief group discussion.

Community Members** Group discussions (women; 30-60+ yrs; mainly Pakistan-born) Small group discussion (men; 40-49 yrs; UK-born) Workshop with group feedback (women, mixed ages) Interview with professional married couple (30-39 yrs; UK-born)

3 1 1 1 Total= 50+

**All Sheffield

4. Findings 4.1 Cousin marriage: attitudes and practices Responses from both the KIs and community group discussions suggest that, by-and-large, the topic of cousin marriage is not widely discussed, though it is not taboo. There was consensus that most members of the Pakistani community would recognise significant advantages to marrying within the family. The advantages identified included: strengthening family ties; providing economic opportunities for family members; ease of finding a suitable match; and increased sustainability of the marriage. Respondents commented: "When you marry outside you don't know what you are getting. It's about security, about knowing your ancestry also" "It is a way of giving a good life to the son or daughter of your relative who is left in Pakistan" Respondents also highlighted the stake that family members other than the couple themselves have in the marriage arrangements. They noted that there is often familial pressure and that refusal to accept marriage offers from relatives can negatively impact upon existing family ties. In many cases, going ahead with a cousin marriage is seen to be respecting the wishes of older relatives. One happily married respondent noted that his 7

marriage had been agreed long before by his grandfather and that even though his grandfather was deceased by the time the marriage took place they had nevertheless respected his wishes. Some respondents also noted the relevance of caste (or zaat) hierarchy and the reluctance to marry outside one's zaat. One respondent felt that most well-educated Pakistani people no longer approve of cousin marriage, and we came across some such individuals who expressed strongly negative attitudes towards the practice. However, other observations and comments indicated that there are varied opinions and perspectives among those who might be considered 'welleducated' or 'professional', with many identifying advantages to this marriage pattern. Several of our respondents felt that although a large proportion of marriages are still between close relatives and often involve spouses from Pakistan, there is a change underway. Respondents felt that the younger generation, and particularly UK-born young men, are raising objections to cousin marriage, largely because of concerns about not being compatible with the proposed spouse. Several respondents felt that the proportion of marriages that are to cousins is decreasing. Nevertheless, respondents noted that the older generation are generally still very supportive of cousin marriage and that younger people may struggle to oppose their elders' wishes.

4.2 Childhood disability and infant death: understandings and explanations Some respondents noted that there is a reluctance to reveal disabilities within the family and that the presence of such conditions can negatively impact upon people's marriage chances even if they themselves are not affected (themes that are prominent in the wider research literature). Many respondents suggested that most people in the Pakistani community would explain disability or death among infants as 'Allah's destiny', and that some would regard such a disabled child as a test from Allah. Respondents commented: "We are here in this world as a test; disabled children are making a place in heaven for us" "However long God has destined you to live, whether it be days, months or years, you will live for that time, not a day earlier or a day later" Other explanations that were commonly given included: black magic or evil eye (nazur lug jaati hai); evil spirits (gin ya bhoot chumut gaya, or saya ho gaya); eating something wrong during pregnancy; and lack of rest during pregnancy. Respondents noted that women often blame themselves (for not being careful during pregnancy; for having something wrong with their womb or pregnancy), and often take the brunt of the blame from other family members, when a disabled child is born.

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4.3 Inheritance, consanguinity and genetic risk Not surprisingly, people felt that levels of knowledge about genetics and inheritance patterns vary greatly between generations and by educational group. That said, even our professional, well-educated respondents all revealed fairly low levels of knowledge and a desire for better understanding. Furthermore, it was clear that respondents who had not received much education did, nevertheless, have some ideas about inheritance, commonly using the word 'genes' and referring to the idea that certain characteristics - including abnormal conditions - are passed on from parent to children, and also in some cases referring to a notion of 'mixing of blood' and possible negative implications for children. As noted above, there was consensus that people would generally not link congenital abnormalities or infant deaths to cousin marriage, offering other explanations instead, and commonly coming to terms with the situation by locating its ultimate cause in Allah's hands. That said, it was clear that significant numbers of people are nevertheless aware of the purported link between cousin marriage and infant death/disability. While some individuals appear to flatly deny the veracity of this claim, others - perhaps a larger proportion - tend to express uncertainty. Respondents' comments suggested the presence of a 'background murmur' on this issue within families: "There is an element of denial. If there is disability people will not link it to this first. They will think of other explanations, such as the child having had an injection. But the issue is rearing its head now; people do discuss it" "[at a condolence visit for a child death] people may generally ask if the parents were related" "Older generations think that any discussions about increasing levels of disability or its relationship with marriage is nonsense and refuse to discuss" Furthermore, our interviews, group discussions and the workshop suggested that at least some individuals in the community are actively considering this issue. One KI told us that he was aware of several families that have multiple disabled members and where there is active discussion of this issue. Workshop participants provided numerous examples of families affected by disability that were raising this issue and trying to understand it. They also noted that the topic is discussed on TV in Pakistan, and that some Islamic scholars have also been suggesting that some conditions are linked to cousin marriage. These same respondents reported across the board that people have very limited and partial understanding, and that there are common confusions and contradictions that people are struggling with [See Box 1]. Comments from workshop participants included: "Since some cousins have normal children it is difficult to understand the link" "I want to know how this really affects our Muslim community" "When issues are linked to genetics it affects the whole family so we need to know more" 9

"It gets on my nerves, the stereotyping. Not all conditions are due to this. We don't have all the information to really understand" Confusion and scepticism was also revealed among some of our KIs. One respondent asked us: "I have yet to see a clear evidence base on this. Is there medical evidence?"

Box 1: Commonly expressed queries How can my child's disability be caused by cousin marriage if my other children are perfectly healthy? It doesn't make sense to say that infant disabilities are caused by cousin marriage because I know plenty of people who are married to their cousins and have healthy kids. It isn't logical to say that infant disabilities are caused by cousin marriage when there are lots of people with disabled children who are not married to their cousins.

4.4 Service awareness and experiences Many respondents felt that people who wanted more information about the causes of infant death or disability would go to their GP, and that they would expect the GP to be able to give an underlying cause for the problem. At the same time, however, respondents felt that people may visit spiritual healers, highlighting the way in which complementary sources of information and support may be drawn upon. Very few respondents were aware of the existence of genetic counselling services, though a small number reported on the experiences of people that they knew who had received such services. The theme that emerges from these reports is the difficulty faced by individuals in absorbing the complex information that is being conveyed. One respondent told us of a couple who had been for counselling several times and that she had even accompanied them to offer translation support, but that they still left the consultation without a clear understanding of the issues. A number of other respondent reports included some mention of people having received information from health professionals relating to cousin marriage and risk of disability. Though the context of these encounters was not always clear, a common theme was for patients not to trust the information being conveyed. For instance, one respondent told us that a friend of hers had been told by a health professional that her child's disability was caused by cousin marriage but she did not believe this explanation because she has two other perfectly healthy kids. A workshop respondent told us how she had witnessed health professionals erroneously attributing certain conditions to cousin marriage, and said that "It 10

hurts when it is all put down to cousin marriage". These stories suggest current service inadequacies and underscore the importance of equipping healthcare providers with knowledge and skills to support this area of work appropriately. Across the board respondent responses suggested very low awareness of the options that might be available in terms of screening and prenatal diagnosis, with individuals assuming instead that the only message from service providers would be to not marry a cousin and therefore that intervention must take place prior to marriage; "otherwise there is no turning back".

4.5 Considerations for new intervention Respondents were asked for their views on whether and how we should proceed with an intervention at community level. Respondents were asked to comment on what sort of information might be helpful, as well as how such information might best be conveyed. Perhaps not surprisingly given the speculative nature of these questions, a variety of somewhat conflictual responses were received. Nevertheless, the consultation does highlight a number of issues that deserve consideration in planning any new intervention.

Likely reception at community level Responses from KIs and community members suggest that any intervention will be met with mixed reactions. While it seems clear that a proportion of the community would value the opportunity to gain more information (around 25 women attended the workshop that we held with over half coming from the other side of Sheffield), there may be some significant opposition to raising this topic from some quarters. Our KIs reminded us of the crucial importance of establishing trust and 'creating a comfortable space' within which people can begin to explore the issues. They felt that there was a danger that intervention in this area could easily be misconstrued as an attack on the Pakistani community and perhaps even an attempt to restrict immigration. Several of them anticipated significant contestation from some community members, highlighting the need for clear and accurate information, confidently conveyed. Some older respondents expressed concern that this kind of intervention might 'spoil' their children with science, while others suggested that members of the younger generation might use new information as a tool to argue against cousin marriages that they object to for other reasons. There does, therefore, seem to be the potential for intervention in this area to be seen as divisive. KIs also noted that Pakistani families living with disabled children are commonly not wellserved by existing services and that their concerns may be primarily focused on meeting the needs of children they are already caring for, rather than thinking about future genetic risk. They felt that service intervention would be more credible and more positively 11

received if it included consideration of their self-identified needs and priorities. Box 2 summarises some of these commonly raised objections. A further issue raised was the importance of any intervention not having the effect of inadvertently stigmatising the Pakistani community. Some KIs suggested that any information giving should be directed at everyone not just at those labelled as being potentially at risk by virtue of their ethnicity. On the other hand, some respondents suggested that there was a need for the "community to take ownership" of the issue and for information sharing to be promoted by "our people".

Box 2: Commonly raised objections I have heard people say that there is a link between cousin marriage and disability but I have yet to see any statistics that prove this. Whether or not a child is born with a disability is in the hands of Allah, talking about cousin marriage and genetic risk is spoiling our children with science. People say that Pakistani families have lots of disabled children due to marrying cousins, but I see more White families with disabled children than among our population. This is really about not wanting people to marry cousins because White people think it is wrong to marry in this way. This is about the government wanting to restrict people from coming into UK, a way to limit us bringing spouses from Pakistan.

Content of messages The consultation findings emphasise the way in which people's response to the topic and need for information will depend greatly on their own personal connection to the issues. Respondents felt that people who have disabled children within their family are more likely to be responsive than those who do not, and that there is a need to tailor information accordingly. Interestingly, a number of respondents felt that there is a need to convey 'facts and figures' at the population level in order to convince people of the veracity of the claim that levels of infant death and disability are higher among those populations who practice cousin marriage, and particularly the local population. Respondents felt that this was important to encourage overall community buy-in to this agenda, and may be important for gaining support from prominent people as Champions. "There needs to be access to clear information as people contest the link and some have strong views" 12

There was also a general consensus that the tone of messages needs to be factual and not in any way preaching or coercive. "There is a need to focus on the health risks, the scientific aspects, that is as involved as the service provider needs to get" Some respondents suggested that life stories and real examples of people who have been identified with genetic risk and how they have been helped would be useful. Again, this related to the need for credibility; for concrete examples and accurate figures. Interestingly, a number of respondents felt that it was important to keep the issue "separate from religion", while others suggested that it was important to engage with religious questions that inevitably come to people's minds. This is clearly an area where further reflection is needed in order to develop an appropriate approach.

Routes of communication; bearers of information Our discussions with both KIs and community members underscored the need to recognise and respond to the diversity within the Pakistani 'community'. Respondents highlighted the way in which younger people would prefer different routes of communication to older people, and the need to adopt strategies that effectively engage with men as well as women. People noted that though young people are perhaps most in need of the information to inform decisions about their future, older generations still have significant influence and so should also have the opportunity to gain more information. There was some disagreement between responses in terms of whether professional healthcare workers - such as GPs or community healthcare workers - are the most appropriate conduits for information or rather people who are perceived to be closer to the community. It appears that there is a need to balance two dimensions of credibility/authenticity. On the one hand people need to trust that the scientific information being given is accurate, while on the other hand they need to trust that the information is being conveyed by someone who has their best interests at heart. A further layer of complexity was raised by one respondent who felt that while general information should be given by local community workers who would be trusted, in the case of personal counselling, this should be provided by someone outside the community to ensure strict confidentiality. Securing trust is likely to depend on different issues for different sections of the population and will require flexibility and sensitivity. The following contrasting quotes illustrate this complexity: "A woman who works in a mosque with a head scarf would be better than a Pakistani woman with jeans and a top" "If this information is to be given it should be by someone who specialises in this topic" "It should be doctors and healthcare professionals; however doctors shouldn't advise people to abort children and should tell them the truth and facts" 13

There were mixed opinions as to whether and how to engage religious leaders and mosques in this agenda. While some KIs felt strongly that Imams should be engaged and could be a useful channel for conveying basic information and encouraging engagement with services, others were concerned that we should avoid sparking theological discussions that could complicate the issues. While respondents generally felt that face-to-face interaction and the opportunity to discuss the issues over time would be most helpful, some did feel that internet resources would be useful for some sections of the population. One respondent reported that he had used the internet to get information on cystic fibrosis to supplement the information he had been told by healthcare workers and that this was what he and his peers would normally do when wanting to understand an issue more fully. Others suggested piggy-backing onto existing groups and repeatedly engaging people on the topic since it may take time to convey complex information and encourage useful discussion.

Support from organisations and community leaders The general response from the organisations that we contacted was very positive and we found it easy to set up group discussions on the topic, piggy-backing onto existing groups. Only one organisation refused to participate with managers expressing concern about the topic of focus. The full day workshop we ran included several community development workers from organisations across Sheffield and all of these expressed an interest in pursuing this area of work in the future. It is clear, however, that there is a need to upskill the staff of organisations before they would be able to confidently engage in this area of work; unsurprising given the complex and sensitive nature of the information to be conveyed. In terms of identifying Champions from within the Pakistani community, we again received some positive responses. Potential people did, however, express the need for more information and 'clear facts' so that they could confidently play such a role. One respondent also suggested that the most effective champions of the issue would be those who have used and benefited from the genetics counselling service themselves (though this may be asking rather a lot of individuals who will presumably have gone through some very difficult decisions). There was also some scepticism expressed by some KIs who have witnessed numerous short-lived community-based interventions relating to the health of minority ethic populations. KIs reminded us that there is no 'quick fix' in this area of work and that any intervention will need to be sustained and adequately resourced.

5. Discussion The findings presented above are derived from a small-scale consultation exercise and as such should be interpreted with some degree of caution. The limited resource and short 14

timescale available inevitably meant that we had to rely on the more readily accessible respondents, and it is likely that we have overlooked some segments of the population who might have expressed additional and divergent views and understandings. Nevertheless, the consultation revealed a variety of perspectives and participants did appear to express their opinions openly, raising both concerns and doubts about work in this area, as well as more positive attitudes towards potential intervention. The findings presented above are largely consistent with those from earlier studies conducted elsewhere in the country. Earlier studies have reported: similar reasons for families undertaking consanguineous marriages (Modell and Darr, 2002; Ali, McClean Rehman, 2008; Shaw, 2009; Shaw and Hurst, 2008); similarly low levels of awareness regarding genetics and inherited disease and significant confusion regarding individual level risk and the links to consanguineous marriage; similar demand among some sections of the population for more information; and similar scepticism and mistrust regarding the intentions behind interventions in this area among others (Ali, McClean and Rehman, 2008; Khan et al., 2010). Our findings also suggest significant heterogeneity, ambivalence and uncertainty among community members in relation to the issues, which are both complex and emotionally charged. For instance, those individuals and families, who located the cause of infant death or childhood disability in Allah’s hands, did not necessarily reject other possible explanations or information from the medical profession. Again, this is consistent with earlier work that alerts us to the way in which people’s stated explanations for reproductive outcomes being ‘up to God’ can reflect the fact that their understanding has been exhausted and can be seen as ‘idioms for expressing risk-acceptability rather than indications of necessarily fatalistic or religious beliefs’ (Shaw, 2011). Evidence suggests that the belief that everything is ultimately in the hands of God is not incompatible with the pursuit of scientific knowledge (Shaw and Hurst, 2008; Bryant, et al., 2011) and is not unique to British Pakistanis (Featherstone et al., 2006; Panter-Brick, 1991). That said, a lack of trust in the information provided by healthcare professionals during medical encounters was evident in the present study, and this too has been reported elsewhere, together with a feeling of being stigmatised and blamed for having a disabled child by the attitudes of healthcare professionals (Shaw, 2011; Ali, McClean Rehman, 2008). This links to the recommendation made by several of our respondents that attention should be given to educating healthcare professionals as well as community members. Previous evidence has also highlighted the way in which a lack of knowledge and unhelpful assumptions held by healthcare practitioners – such as that Islam forbids termination of pregnancy and there is no point in providing genetic counselling to Muslim women – can undermine efforts to make services more equitable (Kai et al., 2007; Modell et al., 2007; Khan, Benson, MacLeod, Kingston, 2010). Our findings suggest that any interventions at community level will need to be carefully thought through with clearly articulated objectives and unambiguous links to other strands of intervention on this agenda. Interventions at community level will also need to bear in mind that the recipients of any information provided will vary greatly in terms of their personal relationship to the issue at hand. Messages/approaches will need to be carefully 15

crafted so as not to cause unnecessary worry and to prompt action appropriate to individual circumstances. Intervention should seek to build on existing networks of communication and trusted sources of information and support in order to counter inevitable feelings of mistrust among some sections of the community. Intervention will need to develop effective messages in three broad areas of information need / awareness: • • •

Individual level risk and patterns of inheritance Population level risk and links to customary consanguineous marriage Service availability

As well as developing effective messages and appropriate communication channels, there are a number of additional questions and issues that will need to be addressed. First, it is unclear to what extent the Pakistani population of Sheffield and Rotherham is made up of branching families that might usefully form the basis for the cascading information and encouraging service uptake. Second, there were mixed opinions as to whether and how to engage effectively with religious leaders. Since religious questions do arise when individuals and families are presented with new information relating to genetic risk and reproductive choices, it would seem essential that services/interventions can at least refer people on to appropriately informed religious scholars. Interventions in Bradford and elsewhere have begun to engage in this way, and there will be a need for Sheffield and Rotherham to learn from these initiatives. It is worth noting that in some Muslim countries, including Pakistan (Ahmed et al., 2000), Iran (Modell & Darr, 2002) and Saudi Arabia (Alkuraya, & Kilani (2001), religious leaders have been actively engaged in seeking appropriate responses to population-level genetic risk, with a fatwa (an authoritative Islamic law ruling) allowing pregnancy termination within the first 120 days of pregnancy in the case of genetic foetal abnormality having been issued. Third, there will be a need to find ways to effectively engage with younger people since these groups were not well represented in our consultation exercise and have not generally been reached by interventions elsewhere, though there are some recent school-based initiatives, e.g. in Kirklees, that may hold promise. Finally, it is important to remember that developing and implementing an effective approach to raising genetic literacy among community members will be a long-term process requiring sustained investment and an ongoing process of evaluation and refinement.

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References Ahmed, S. Et al. (2000). Prenatal diagnosis of β-thalassaemia in Pakistan: experience in a Muslim country. Prenatal Diagnosis, 20, 378–383. Ali N., McClean C. and Rehman H. (2008) Understanding inter-generational attitudes and beliefs towards consanguineous marriages in Birmingham. ETHNOS, Birmingham. Alkuraya, F. S., & Kilani, R. A. (2001). Attitude of Saudi families affected with hemoglobinophathies towards prenatal screening and abortion and the influence of relious ruling (Fatwa). Prenatal Diagnosis, 21, 448e451. Bryant L.D., Ahmed, S., Ahmed, M., Jafri, H., Raashid, Y. (2011). 'All is done by Allah'. Understandings of Down syndrome and prenatal testing in Pakistan. Soc Sci Med. 2011 Apr;72(8):1393-9 Bundey S. and Aslam, H. (1993) A five-year prospective study of the health of children in different ethnic groups with particular reference to the effect of inbreeding. European Journal of Human Genetics 1: 206-219. Darr A, (1999) The Patients' Perspective. In Rose P and Lucassen A, Genetics in Primary Care, OUP. Featherstone, K., Atkinson, P., Bharadwaj, A.,& Clarke, A. (2006). Risky relations: Family, kinship and the new genetics. Oxford: Berg. Foster, G. M. (1976). Disease etiologies in non-Western medical systems. American Anthropologist, 78, 773–782. Kai, J., Beavan, J., Faull, C., Dodson, L., Gill, P., & Beighton, A. (2007). Professional uncertainty and disempowerment responding to ethnic diversity in health care: a qualitative study. Plos Medicine, 4(11), e323. Khan, N., Benson, J., MacLeod, R. Kingston, H. (2010). Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families. J Community Genet, 73–81. Modell B. and Darr A. (2002) Genetic counselling and customary consanguineous marriage Nature Reviews: Genetics 3: 225-229. Modell, B., Harris, R., Lane, B., Khan, M., Darlison, M., Petrou, M., et al. (2000). Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential enquiry. British Medical Journal, 320, 337e341. Panter-Brick, C. (1991). Parental responses to consanguinity and genetic disease in Saudi Arabia. Social Science and Medicine, 33, 1295–1302. Shaw, A. (2009). Negotiating risk: British Pakistani experiences of genetics. Oxford and New York: Berghahn books. 17

Shaw, A. (2011). Risk and reproductive decisions: British Pakistani couples’ responses to genetic Counselling. Social Science and Medicine 73, 111-120. Shaw, A., & Hurst, J.A. (2008). What is this Genetics, Anyway?” Understandings of Genetics, Illness Causality and Inheritance Among British Pakistani Users of Genetic Services. J Genet Counsel, 17, 373–383. Yoong SY, Feltbower R, Spencer N, Mckinney PA (2005) Families affected by deafness: hospital services uptake in a multiethnic population. Arch Dis Child 90:454–459.

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Appendix 1 Prompting questions for consultation with local groups or individuals Vignette (audio recorded in both English and Urdu/Punjabi) Saima is 23 years old and has been married to Shahid for four years. After finishing her degree she and her husband decided that the time was right to start a family. Saima was very excited when she found out that she was pregnant and began to telephone her close relatives, many of whom live in Pakistan. Unfortunately, when their baby was born they were told by the doctors at the hospital that he had a serious illness. Saima and Shahid did not really understand what the doctors were telling them; they were too busy worrying about their son. They spent a lot of time in and out of the hospital over the coming weeks but there was nothing the doctors could do and the baby died at just five months old. When Saima spoke with her relatives in Pakistan she was told that there had been other babies born in the family with similar problems who had died very young. A few weeks later Saima overheard Shahid talking to a friend about the fact they are cousins and that this might have caused the baby's problems. Saima is now pregnant again. 1. What do you think could have caused the problems with Saima and Shahid's baby? 2. Do you think they should be worried about this pregnancy? Why? Why not? 3. Do you think they should go to see someone to find out more about whether this pregnancy could also be affected? Where do you think they should go? Why there? 4. What other advice would you give to Saima and Shahid? 5. To what extent do people in your community discuss the advantages and disadvantages of cousin marriage? What issues are raised? Does the issue of disability/death in children of cousin marriages feature as part of these conversations? 6. What sorts of explanations do people in your community have for children being born with disabilities or dying very early in life? What explanations are there for families that have multiple children with the same disability or several child deaths? 7. Do you think people in the community need more information about these issues? Do people want to learn and understand these things more? 8. Who do you think should provide this information? Is it important that the person conveying the information is from this community? What attributes should the person have? 9. Would it be helpful to have opportunities to learn about these issues at community level? For instance, in local groups or community centres? 10. Do you think people would find these issues sensitive or difficult to discuss? 11. Do you have other thoughts or comments you would like to add? 19

Appendix 2: Prompting questions for Key Informants [First clarify the respondent's background and the issues that s/he feels confident to comment on. Wherever possible avoid yes/no questions and ask for examples and stories to illustrate the points made.] Thinking about the local Pakistani community in Sheffield/Rotherham, and recognising that this is not a homogenous population: 1. To what extent do you think there are ongoing conversations/debates about the advantages and disadvantages of cousin marriage? Is this something that people openly discuss? Discuss within their families? What issues are raised? Does the issue of disability/death in children of cousin marriages feature as part of these conversations? 2. How would you describe the levels of awareness and understanding of genetic risk linked to cousin marriage in the population? What sorts of understandings do you hear expressed by people? [phrases, words etc.] Do levels of knowledge vary? In what way? 3. Aside from genetic factors, what sorts of explanations do local people have for children being born with disabilities or dying very early in life? What explanations are there for families that have multiple children with the same disability or several child deaths? 4. If someone wanted to find out more about these issues, where do you think they might go for advice/information? Who might they talk to? What about GPs? 5. To what extent do you think people who could benefit from more information and advice about genetic risk are currently able to access this sort of service? Are you aware of any individuals/families receiving genetic counselling at the Children's Hospital? Do you know anything about their experiences? Looking to the future now, we are keen to try to find ways to increase people's knowledge and awareness of these issues so that the community as a whole is better informed, and those individuals who are at risk will find it easier to access services they need. 6. How easy do you think it will be to raise these issues in community settings? What issues would need to be taken into account? What might be sensitive? 7. What individuals or networks might be influential here, either supporting attempts to raise awareness and initiate community conversations, or perhaps objecting to this or blocking such attempts? Who else should we be talking to? 8. Who do you think local people would most readily engage with on these issues? Peer educators? Professionals? What attributes would be important in those who were conveying the information? 9. How do you think local people would take on this new information best? What sorts of media/routes might be effective? Do you have examples from other areas of work? 10. Finally, what are your own feelings about this area of work? Do you have concerns or queries? Any other issues you would like us to be aware of? 20

Acknowledgements Support for this work was provided by NIHR CLAHRC for South Yorkshire. NIHR CLAHRC for South Yorkshire acknowledges funding from the National Institute of Health Research. The views and opinions expressed are those of the authors, and not necessarily those of the NHS, the NIHR or the Department of Health. CLAHRC SY would also like to acknowledge the participation and resources of our partner organisations. Further details can be found at www.clahrc-sy.nihr.ac.uk. The authors thank the individuals who participated in the consultation who generously gave us their time and shared their insights. We also thank members of the Sheffield Community Genetics Working Group who have provided advice and support to this work, particularly: Gulnaz Hussein, Oliver Quarrell, Alyson Bradbury, Caroline Burrows, Phil Reid and Permjeet Dhoot.

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