This presentation will explore the relevance of ethnic origin and the provision of genetic counselling within the UK. This will be with particular reference to Epstein et al's (1975) description of genetic counselling as a communication process. Whilst primarily drawing upon research undertaken with sickle and thalassaemia counsellors, the current context of service provision will be looked at in light of the NHS Plan (2000), the implications of the Race Relations (Amendment) Act, 2000 and the Genetics White Paper (DoH, 2003). Key discussion points will include:

the adequacy of current genetic/sickle & thalassaemia counselling provision for those who require this in languages other than English
possible factors involved in the contrasting ethnic group profiles of genetic counsellors and sickle and thalassaemia counsellors
are genetic/sickle & thalassaemia counsellors culturally competent?

Back to workshop homepage

Ethical Implications of Race and Ethnicity in Clinical Genetics

Dr Richard Ashcroft

The relationship between social categories, such as "race" or "ethnicity", and biological variation is intellectually and politically fraught with difficulty. This has been highlighted recently by debates in the United States and elsewhere about variations in response to therapeutic drugs between populations. How should clinicians and managers treat patients and organise services in the light of knowledge of such population variations, without falling into the trap of racial discrimination? In this presentation I will set out some of the ethical complexities facing patients, clinicians, managers and policy makers. I will discuss how far we can learn from the US experience. I will also suggest some ways in which ethical practice can be defined and promoted.

Back to workshop homepage

Kinship Knowledge as A Tool In Genetic Service Delivery

Dr Aamra Darr

Genetic information impacts on whole families and not just the individual affected by a genetic condition. Given that all family st5ructures function within a larger, pre-existing kinship structure, there is an inter-dependent relationship between the two. However, in health services research, the relationship between genetics and kinship is relatively unexplored.

In our multi ethnic society, diversity is manifested not only in the often discussed socio-economic, language and cultural dimensions but also in co-existing and dynamic kinship patterns. The diversity poses a challenge for the Health Service to devise appropriate services for every ethnic group. This presentation illustrates how kinship knowledge of the British Pakistani population has facilitated the development of a culturally sensitive approach to genetic service delivery. The approach incorporates the implications of its kinship structure. It also presents information on the diversity of kinship patterns within our population and examines the consequences of disregarding kinship knowledge in devising genetic services.

Back to workshop homepage

Ethnicity and Antenatal Screening for Sickle Cell/Thalassaemia

Dr Simon Dyson

The EQUANS project for the NHS Sickle Cell and Thalassaemia Screening Committee assesses whether an ethnicity question can accurately predict risk of carrying genes associated with sickle cell/thalassaemia. Ethnicity questions used in the study are presented. There are three problems with selection by ethnicity. First, the current highly pressured state of community midwifery means midwives do not have the time to explore understanding of ethnicity and risk in sufficient detail.

Second, both health service providers and mother work with misconceived notions of distinct biological 'races' based on scientific racism. Scientific non-racial thinking about the relationship between ethnicity and risk disturbs this commonsense 'race-thinking' and means an ethnicity question sometimes taps the wrong domain of experience for effecting selectivity. Continued use by services of 'racial' categories such as Caucasian further confuses clients. Some clients themselves hold to discredited notions of race-thinking ("I've got white blood"). Midwives do not have the ethnicity awareness, nor the confidence, nor the time, not the inclination to undertake the emotionally-taxing 'face-work' that challenging such misconceptions would entail.

Third, processes of ethnic identification are increasingly flexible, whereas the 'New Genetics' medicalises kinship networks. Clients increasingly define their family in social not biological terms. They use ethnicity flexibly as standing for social family, country of birth, language, nationality, religion, skin colour and much more. None of these are domains that capture genetic ancestry and therefore none correctly map to risk of carrying genes associated with sickle cell/thalassaemia.

Specialist haemoglobinopathy counsellors were also interviewed for the EQUANS project. Haemoglobinopathy counsellors have a strategic position in genetic counselling of carriers and social counselling of sufferers that makes it structurally more difficult to lapse into negative imagery of what the life of someone living with sickle cell/thalassaemia will be like. They also show great skill in 'cooling out' angry white carriers of genes associated with haemoglobin disorders. This has important implications for universal neonatal screening for sickle cell.

In conclusion there are many conceptual reasons to suppose targeting screening by ethnicity would fail. However, the background and the specific purpose of ethnicity data collection need to explained to the client. Clinical genetics can learn much from specialist haemoglobinopathy counsellors. There is a need for health workers to better understand the distinct meanings of ethnicity, scientific racism, racialization, and the myth of 'race'.

Back to workshop homepage

Practical Aspects of Providing Genetic Services for ethnic minorities

Dr Carole McKeown

Genetics Services are organised regionally, and this talk will draw on the experience of the West Midlands department which provides genetic services to an ethnically diverse population of 5.3M. Nearly 600,000 people in the West Midlands come from ethnic minority groups, comprising <1% of the population in some rural areas to >70% in one inner city PCT. The largest minority group in terms of referral is the Pakistani community. Access to Genetic Services and the process will be described. Issues such as the value of genetic counsellors from minority communities, interpreters, and written communication, will be highlighted. There are practical difficulties in providing an equitable service to low prevalence areas. Raising community awareness and education of all health professionals are important for improving the service in the future.

Back to workshop homepage

Kinship patterns and their genetic implications

Professor Bernadette Modell

As migration increases population mixing, it is increasingly important for health workers in multi-ethnic societies to be aware of diverse kinship patterns and their implications, including implications for genetic risk and genetic counselling. For example, the preference for consanguineous marriage among some minority ethnic groups in the UK raises factual questions about the prevalence of recessively-inherited disorders in these groups, and how to provide appropriate socially sensitive genetic counselling.

Dr Sarah Bundy's “Birmingham birth study” provided the most accurate information currently available on the clinical implications of customary consanguineous marriage. This and other studies indicate that the birth prevalence of infants with recessively-inherited disorders rises by about 7.0/1,000 for every 0.01 increase in F, the coefficient of consanguinity (among British Pakistanis the current F is about 0.0431, compared with about 0.003 for most North European populations). The combination of this information with census data allows calculation of service implications for different regions of the UK.

Studies in Pakistan using thalassaemia as a model, have shown that customary consanguineous marriage offers unusual opportunities for fruitful family-based genetic counselling. However, this approach is currently little exploited in the UK. Formal development of a family counselling approach based on national networking among molecular diagnostic and clinical services, could prove a highly cost-effective approach to genetic counselling for consanguineous couples in this country.

Back to workshop homepage

Clinical Genetics in Multicultural General Practice: developing proactive services for consanguineous couples and haemoglobin disorder screening

Dr Nadeem Qureshi

The provision of primary care genetics services for ethnic minority communities involves both identifying conditions specific to these communities and exploring broad genetic issues within the context of ethnicity.

The former includes increased public and primary health care professionals' awareness of the haemoglobin disorders. With the implementation of a National Antenatal Haemoglobin Disorder Screening Programme by 2004, the NHS plan has highlighted the need to develop this area.

Rarer autosomal recessive conditions are also clustered in communities favouring consanguinity. A pro-active primary care based genetic service would help to inform couples at increased risk of these autosomal recessive disorders. Unfortunately, the current healthcare system adopts a reactive culturally insensitive approach.

Considering broader genetic issues, family history based guidelines for cancer and ischaemic heart disease are being developed, however the applicability and interpretation of such inherited predispositions within diverse ethnic kinships have been ignored. Further, a principal of genetic counselling is non-directiveness, however this has also been neglected in many minority communities. This is a particular danger in primary care where counselling is offered by inexperienced staff. Consequently, there is a risk of alienating these communities.

All of the above concerns can be handled by simple relatively low cost infrastructure changes and training programmes.

Back to workshop homepage

London IDEAS does not take responsibility for the content of external websites.