Living with Sickle Cell or Beta Thalassaemia Trait: Implications for Identity and Social Life

Previous policy oriented and sociological research on sickle cell and thalassaemia disorders has tended to focus on how carrier status impacts on reproductive choices or decisions related to antenatal screening. We know little about how being a ‘healthy carrier’ impacts on people’s ideas about health and illness or, more broadly, their sense of social relationships and identity at different phases of the life-course

Testing the Children: Do Non-Genetic Health-Care Providers Differ in Their Decision to Advise Genetic Presymptomatic Testing on Minors? A Cross-Sectional Study in Five Countries in the European Union

BACKGROUND: Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early detection improves future medical health. AIM: This study, which is part of the larger 5th EU-framework "genetic education" (GenEd) study, aimed to evaluate the self-reported responses of nongenetic health-care providers in five different EU countries (Germany, France, Sweden, the United Kingdom, and the Netherlands) when confronted with a parent requesting presymptomatic testing on a minor child for a treatable disease. METHODS: A cross-sectional study design using postal, structured scenario-based questionnaires that were sent to 8129 general practitioners (GPs) and pediatricians, between July 2004 and October 2004, addressing self-reported management of a genetic case for which early medical intervention during childhood is beneficial, involving a minor. RESULTS: Most practitioners agreed on testing the oldest child, aged 12 years (81.5% for GPs and 87.2% for pediatricians), and not testing the youngest child, aged 6 months (72.6% for GPs and 61.3% for pediatricians). After multivariate adjustment there were statistical differences between countries in recommending a genetic test for the child at the age of 8 years. Pediatricians in France (50%) and Germany (58%) would recommend a test, whereas in the United Kingdom (22%), Sweden (30%), and the Netherlands (32%) they would not. CONCLUSION: Even though presymptomatic genetic testing in minors is recommended for disorders for which medical intervention exists, EU physicians are uncertain at what age starting to do so in young children

General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers’ practices

It is increasingly recognised that genetics will have to be integrated into all parts of primary health care. Previous research has demonstrated that involvement and confidence in genetics varies amongst primary care providers. We aimed to analyse perceptions of primary care providers regarding responsibility for genetic tasks and factors affecting those perceptions. Postal questionnaire including a hypothetical case management scenario of a cardiac condition with a genetic component was sent to random samples of medically qualified general practitioners in France, Germany, Netherlands, Sweden and UK (n = 1,168). Logistic regression analysis of factors affecting primary care practitioners’ willingness to carry out genetic tasks themselves was conducted; 61% would take a family history themselves but only 38% would explain an inheritance pattern and 16% would order a genetic test. In multivariate analysis, only the country of practice was consistently predictive of willingness to carry out genetic tasks, although male gender predicted willingness to carry out the majority of tasks studied. The stage of career at which education in genetics had been provided was not predictive of willingness to carry out any of the tasks analysed. Country of practice is significantly predictive of attitudes towards genetics in primary care practice and therefore genetic education structure and content in Europe will need to be significantly tailored towards country-specific approaches

Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial

Objective To evaluate the effectiveness of offering antenatal screening for sickle cell disease and thalassaemia in primary care as a way of facilitating earlier uptake of screening

White managers must tackle discrimination

Black and minority ethnic nurses trying to develop their career should not have to cope with a racist system

Equity of access to NHS cancer services for members of minority ethnic groups. Report of findings of surveys of hospital medical and nursing staff at the Royal Marsden Hospital

Executive Summary 1. The NHS Cancer Plan draws attention to the inequity of access to cancer services for members of minority ethnic groups, according importance to such matters as culturally-sensitive information and different approaches to giving information. The Department of Health's latest Cancer Services: Update states that 'to improve the experience of patients from an ethnic background' is a significant area of risk within the development of cancer services. Again, improving access and providing information and more informed choice to ethnic minority communities is identified as a priority . 2. This research study focuses on one particular dimension of access: the attitudes of hospital medical and nursing staff to inequity of access to NHS cancer services for members of minority ethnic groups. 3. Postally-administered questionnaire surveys for hospital doctors and nurses achieved overall response rates (omitting exclusions) of 52% and 69%, respectively (valid responses, 44 and 55%, respectively). 4. 16% of doctors and nurses thought that patients from minority ethnic groups usually or sometimes presented with disease at a more advanced stage than the general population. Research is needed to establish whether members of minority ethnic groups are diagnosed in later disease stages than other patients, after controlling for socio-economic status and other confounding factors. 5. While only 5% of nurses and doctors thought that clinicians were less willing to recruit members of minority ethnic groups into clinical trials compared with other patients, 16% of doctors and 12% of nurses thought that members of minority ethnic groups were not as willing to participate in clinical trials. Significant proportions of doctors and nurses had greater concerns (compared with other patients) with respect to obtaining informed consent, fulfilling safety requirements, and ensuring follow-up. Linguistic and cultural constraints upon the participation of members of minority ethnic groups in cancer trials were identified by respondents. The extent to which ethnic minorities are excluded from trials requires investigation. 6. Between a quarter and a third of respondents perceived their gender as a barrier in treating/caring for members of minority ethnic groups, especially with respect to Muslim and Asian women and Arab/Middle Eastern men. 10% of nurses found their ethnicity a barrier

The Role of Ethnic Monitoring in Mainstreaming Race Equality and the Modernization of the NHS: A Neglected Agenda?

The Department of Health has adopted mainstreaming as a fundamental principle of its race and equal opportunities work in service delivery, workforce policies and the tackling of institutional racism. A logical and necessary extension of this approach is to mainstream ethnic monitoring, a need supported by an increasing number of government departments, agencies and independent research bodies and implicitly recognized in the equalities framework for the NHS. However, the sparseness of proposals to improve the information base appears as the weak link in the Department's race equality agenda, reflecting a highly fragmented and piecemeal approach to ethnic monitoring in the past. Much of the information collected in the NHS and social care settings either does not record ethnic group or yields data of such poor quality and completeness that they are not used. Monitoring must be made relevant to the needs of those collecting the data as well as for central reporting, so that usage itself contributes to improvements in quality. Guidance and training covering the principles of monitoring, the process of collection and the use of the data generated should be a key component in implementing the process. Making ethnic monitoring a high political priority and locating it at the centre of race equality policies is needed to ensure that the huge potential it offers in the modernization of the NHS is fulfilled

The feasibility of using ethnicity as a primary tool for antenatal selective screening for sickle cell disorders: pointers from the research evidence

The Department of Health has announced a linked antenatal and neonatal screening programme for haemoglobinopathies by 2004 in a comprehensive national plan for the National Health Service in Britain. In response the National Screening Committee has commenced development work on how such a programme can best be implemented, including investigation of the effectiveness of a question about ethnic origin as a basis for selection. In addition, two recent health technology assessment reports have assessed alternative options for antenatal and neonatal haemoglobinopathy screening programmes in the United Kingdom. Both reports and commentators have emphasised the importance of developing a standardised instrument for collecting ethnicity data and recommended early development of such work. An examination of the evidence base on the use of ethnicity as a primary screening tool reveals substantial variability in practice and in the quality of data collected, with risk group misclassification as high as 20% against a recommended target of under 5.5%. The literature on the conceptual basis and structure of ethnicity questions, method of assignment in data collection, and level of resolution on categorisation is reviewed to identify the most appropriate content and format of a screening question for the haemoglobinopathies. Question options are evaluated, including the use of an extended 2001 Census classification and a 'non-North European' identifier and a candidate question based on 'family origins' is offered for debate. Finally, issues relating to the testing of the efficiency of an ethnicity question and the operationalising of its use for antenatal sickle cell screening are discussed