Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

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.

Paediatric CT dose: a multicentre audit of subspecialty practice in Australia and New Zealand.

OBJECTIVES: To evaluate paediatric CT dosimetry in Australia and New Zealand and calculate size-specific dose estimates (SSDEs) for chest and abdominal examinations. METHODS: Eight hospitals provided data from 12 CT systems for 1462 CTs in children aged 0-15. Imaging data were recorded for eight examinations: head (trauma, shunt), temporal bone, paranasal sinuses, chest (mass) and chest HRCT (high-resolution CT), and abdomen/pelvis (mass/inflammation). Dose data for cranial examinations were categorised by age and SSDEs by lateral dimension. Diagnostic reference ranges (DRRs) were defined by the 25th and 75th percentiles. Centralised image quality assessment was not undertaken. RESULTS: DRRs for 201 abdominopelvic SSDEs were: 2.8-4.7, 3.6-11.5, 8.5-15.0, 7.6-15, and 10.6-16.2 for the <15 cm, 15-19 cm, 20-24 cm, 25-29 cm and >30 cm groups, respectively. For 147 chest examinations using these body width categories, SSDE DRRs were 2.0-4.4, 3.3-7.9, 4.0-9.4, 4.5-12, and 6.5-12. Kilovoltage peak (kVp), but not AEC or IR, was associated with SSDE (parameter estimate [standard error]: 0.12 (0.03); p < 0.0001). CONCLUSIONS: Australian and New Zealand paediatric CT DRRs and abdominal SSDEs are comparable to international data. SSDEs for chest examinations are proposed. Dose variations could be reduced by adjusting kVp. KEY POINTS: • SSDEs can be calculated for all patients, CT systems, and practices • Kilovoltage peak (kVp) has the greatest association with dose in similar-sized patients • Paediatric DRRs for CT are now available for use internationally.

Cancer detection in primary care: insights from general practitioners.

BACKGROUND: General practitioners (GPs) have a key role in cancer detection as the usual first point of contact for patients with potential cancer symptoms. Nevertheless, there is limited work that investigates their perceptions of their role in the early detection of cancer. To address this gap, we aimed to gain an in-depth understanding of cancer diagnosis from the perspective of GPs. METHODS: Individual face-to-face semi-structured interviews were conducted with 55 GPs from the North and North East of England and Greater London. All interviews were recorded and professionally transcribed verbatim. Repeated reading and co-coding engendered systematic thematic analysis across the interview material. RESULTS: Three main themes emerged from the analysis of our data. First, we identified the burden of early cancer detection in general practice, both related to the anxiety and symptoms patients bring to GPs and the need for GPs to recognise patterns of cancer symptoms and refer appropriately; second, this burden is intensified by a perceived fragmentation of services within the National Health Service (NHS); and third, it is made more complex by the interface between general practice and public health. CONCLUSIONS: GPs occupy a challenging but pivotal role in cancer detection. It is crucial that this role be supported by policy and research.

Systematic review of international evidence on the effectiveness and costs of paediatric home care for children and young people who are ill.

Promoting 'care closer to home' for ill children is a policy and practice objective internationally. Progress towards this goal is hampered by a perceived lack of evidence on effectiveness and costs. The aim of the work reported here was to establish the strength of current international evidence on the effectiveness and costs of paediatric home care by updating and extending an earlier systematic review. A systematic review following Centre for Reviews and Dissemination guidelines involved updating electronic searches, and extending them to cover paediatric home care for short-term acute conditions. Twenty-one databases were searched from 1990 to April 2007. Hand searching was also carried out. Pairs of team members, guided by an algorithm, selected randomized controlled trials (RCTs), other comparative studies and studies including health economics data. A third reviewer resolved any disagreements. The quality of RCTs was assessed, but a 'best-evidence' approach was taken overall. Data were extracted into specifically designed spreadsheets and a second team member checked all data. Narrative synthesis was used throughout. This paper reports findings from RCTs and studies with health economics data. In total, 16 570 publications were identified after de-duplication. Eleven new RCTs (reported in 17 papers) and 20 papers with health economics data were included and reviewed. Evidence on costs and effectiveness of paediatric home care has not grown substantially since the previous review, but this updated review adds weight to the conclusion that it can deliver equivalent clinical outcomes for children and not impose a greater burden on families. Indeed, in some cases, there is evidence of reduced burden and costs for families compared with hospital care. There is also growing evidence, albeit based on weaker evidence, that paediatric home care may reduce costs for health services, particularly for children with complex and long-term needs.

Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective.

WHO advice suggests a family-centred approach for managing the elevated risk of recessively inherited disorders in consanguineous communities, whilst emerging policy recommends community engagement as an integral component of genetic service development. This paper explores the feasibility of the family-centred approach in the UK Pakistani origin community. The study took place within a context of debate in the media, professional and lay circles about cousin marriage causing disability in children. Using qualitative methods, a total of six single-sex focus group discussions (n = 50) were conducted in three UK cities with a high settlement of people of Pakistani origin. Tape-recorded transcripts were analysed using framework analysis. Kinship networks within Pakistani origin communities are being sustained and marriage between close blood relatives continues to take place alongside other marriage options. Study participants were critical of what was perceived as a prevalent notion that cousin marriage causes disability in children. They were willing to discuss cousin marriage and disability, share genetic information and engage with genetic issues. A desire for accurate information and a public informed about genetic issues was articulated whilst ineffective communication of genetic risk information undermined professionals in their support role. This study suggests a community that is embracing change, one in which kinship networks are still active and genetic information exchange is taking place. At the community level, these are conditions supportive of the family-centred approach to genetic testing and counselling.

Antenatal screening for haemoglobinopathies in primary care: a cohort study and cluster randomised trial to inform a simulation model. The Screening for Haemoglobinopathies in First Trimester (SHIFT) trial.

OBJECTIVES: To assess the effectiveness, cost-effectiveness, acceptability and feasibility of offering universal antenatal sickle cell and thalassaemia (SCT) screening in primary care when pregnancy is first confirmed and to model the cost-effectiveness of early screening in primary care versus standard care. DESIGN: A population-based cohort study, cluster randomised trial and refinement of a published decision model. SETTING: Twenty-five general practices from two UK primary care trusts (PCTs) in two inner city boroughs with a high proportion of residents from minority ethnic groups. PARTICIPANTS: Practices were considered eligible if they agreed to be randomised and they were able to provide anonymous data on all eligible pregnant women. Participants were at least 18 years old and consented to take part in the evaluation. INTERVENTIONS: Practices were allocated to intervention, using minimisation and stratifying for PCT and number of partners at the practice, as follows: screening in primary care with parallel father testing (test offered to mother and father simultaneously; n = 8 clusters, 1010 participants); screening in primary care with sequential father testing (test offered to father only if mother identified as carrier; n = 9 clusters, 792 participants); and screening in secondary care with sequential father testing (standard care; n = 8 clusters, 619 participants). MAIN OUTCOME MEASURES: Data on gestational age at pregnancy confirmation and screening date were collected from trial practices for 6 months before randomisation in the cohort phase. The primary outcome measure was timing of SCT screening, measured as the proportion of women screened before 70 days' (10 weeks') gestation. Other outcomes included: offer of screening, rates of informed choice and proportion of women who knew the carrier status of their baby's father by 77 days (11 weeks). RESULTS: For 1441 eligible women in the cohort phase, the median [interquartile range (IQR)] gestational age at pregnancy confirmation was 7.6 weeks (6.0 to 10.7 weeks) and 74% presented in primary care before 10 weeks. The median gestational age at screening was 15.3 weeks (IQR 12.6 to 18.0 weeks). Only 4.4% were screened before 10 weeks. The median delay between pregnancy confirmation and screening was 6.9 weeks (4.7 to 9.3 weeks). In the intervention phase, 1708 pregnancies from 25 practices were assessed for the primary outcome measure. Completed questionnaires were obtained from 464 women who met eligibility criteria for the main analysis. The proportion of women screened by 10 weeks (70 days) was 9/441 (2%) in standard care, compared with 161/677 (24%) in primary care with parallel testing, and 167/590 (28%) in primary care with sequential testing. The proportion of women offered screening by 10 weeks (70 days) was 3/90 (3%) in standard care (note offer of test ascertained for questionnaire respondents only), compared with 321/677 (47%) in primary care with parallel testing, and 281/590 (48%) in primary care with sequential testing. The proportion of women screened by 26 weeks (182 days) was similar across the three groups: 324/441 (73%) in standard care, 571/677 (84%, 0.09) in primary care with parallel testing, and 481/590 (82%, 0.148) in primary care with sequential testing. The screening uptake of fathers was 51/677 (8%) in primary care with parallel testing, and 16/590 (3%) in primary care with sequential testing, and 13/441 (3%) in standard care. The predicted average total cost per pregnancy of offering antenatal SCT screening was estimated to be 13 pounds in standard care, 18.50 pounds in primary care with parallel testing, and 16.40 pounds in primary care with sequential testing. The incremental cost-effectiveness ratio (ICER) was 23 pounds in primary care with parallel testing and 12 pounds in primary care with sequential testing when compared with standard care. Women offered testing in primary care were as likely to make an informed choice as those offered screening by midwives later in pregnancy, but less than one-third of women overall made an informed choice about screening. CONCLUSIONS: Offering antenatal SCT screening as part of pregnancy-confirmation consultations significantly increased the proportion of women screened before 10 weeks (70 days), from 2% in standard care to between 16% and 27% in primary care, but additional resources may be required to implement this. There was no evidence to support offering fathers screening at the same time as women. TRIAL REGISTRATION: Current Controlled Trials ISRCTN00677850.

Imaging of the ileocaecal valve.

The ileocaecal valve can cause concern when it is enlarged. We define the normal and abnormal appearances of the ileocaecal valve and illustrate the importance of using CT and endoscopy to make the correct diagnosis, avoiding any further unnecessary interventions.

Involving South Asian patients in clinical trials.

OBJECTIVES: To investigate how South Asian patients conceptualise the notion of clinical trials and to identify key processes that impact on trial participation and the extent to which communication difficulties, perceptions of risk and attitudes to authority influence these decisions. Also to identify whether 'South Asian' patients are homogeneous in these issues, and which factors differ between different South Asian subgroups and finally how professionals regard the involvement of South Asian patients and their views on strategies to increase participation. DATA SOURCES: A review of the literature on minority ethnic participation in clinical trials was followed by three qualitative interview studies. Interviews were taped and transcribed (and translated if required) and subjected to framework analysis. Face-to-face interviews were conducted with 25 health professionals; 60 South Asian lay people who had not taken part in a trial and 15 South Asian trial participants. RESULTS: Motivations for trial participation were identified as follows: to help society, to improve own health or that of family and friends, out of obligation to the doctor and to increase scientific knowledge. Deterrents were concerns about drug side-effects, busy lifestyles, language, previous bad experiences, mistrust and feelings of not belonging to British society. There was no evidence of antipathy amongst South Asians to the concept of clinical trials and, overall, the younger respondents were more knowledgeable than the older ones. Problems are more likely to be associated with service delivery. Lack of being approached was a common response. Lay-reported factors that might affect South Asian participation in clinical trials include age, language, social class, feeling of not belonging/mistrust, culture and religion. Awareness of clinical trials varied between each group. There are more similarities than differences in attitudes towards clinical trial participation between the South Asian and the general population. Important decisions, such as participation in clinical trials, are likely to be made by those family members who are fluent in English and younger. Social class appears to be more important than ethnicity, and older South Asian people and those from working class backgrounds appear to be more mistrustful. Approachable patients (of the same gender, social class and fluent in English) tend to be 'cherry picked' to clinical trials. This practice was justified because of a lack of time and resources and inadequate support. South Asian patients might be systematically excluded from trials owing to the increased cost and time associated with their inclusion, particularly in relation to the language barrier. Under-representation might also be due to passive exclusion associated with cultural stereotypes. Other characteristics such as gender, age, educational level and social class can also affect trial inclusion. CONCLUSIONS: Effective strategies for South Asian recruitment to clinical trials include: using multi-recruitment strategies; defining the demographic and social profiles of the population to be included; using focus groups to identify any potential barriers; consulting representative community members to provide assistance in the study; ensuring eligibility criteria are set as wide as possible; developing educational and recruitment approaches to attract ethnic minority health professionals; ensuring health professionals are adequately trained in culturally and ethnically orientated service provision; determining the most effective mass media to use in study promotion and recruitment; and targeting inner-city, single-handed practices likely to have high ethnic minority populations. Future research should consider: responses when invited to participate; the role of methodological and organisational barriers to recruitment; the complexities of recruitment from a health professional perspective; developing culturally sensitive research methods; the magnitude of the problem of under-recruitment; strategies to encourage inner-city, single-handed GP participation; and other factors affecting trial inclusion, such as age, gender, educational level and socio-cultural background.

Living a 'normal' life: young people coping with thalassaemia major or sickle cell disorder.

This qualitative paper explores the strategies and resources young people use to cope with sickle cell disorder or thalassaemia major, two haemoglobin disorders with serious implications for health and survival. By focusing on coping strategies, we explore how young people attempt to take control over their lives. The respondents, largely of South Asian and African Caribbean origin, aged between 10 and 19 years, valued maintaining a normal' life and struggled to achieve this normalcy. Strategies were employed to minimise difference from peers but these strategies remained vulnerable. Coping occurred in a dynamic space, involving negotiation and engagement with both personal and structural factors. Threats to normalcy did not always reside in the condition; life transitions, changes in social relationships and racist. disablist or sexist marginalisation also threatened coping strategies.

Genetic screening and haemoglobinopathies: ethics, politics and practice.

The increasing availability of information on the human genetic makeup presents both individuals and society with difficult decisions. This paper explores the ethical and practical issues raised by genetic screening for sickle cell and thalassaemia major, by examining the emerging tension between allowing people to make informed choices, on the basis of genetic information, and prevention of haemoglobinopathies. Within this broad context, the paper also explores the more practical issues of providing genetic screening for haemoglobinopathies, such as the meaning of counselling and screening for the general population; the psychological and social implications for people identified as carriers; and the organisation and delivery of services. It concludes that screening is not always informed by a commitment to informed decision making.

Screening and counselling for sickle cell disorders and thalassaemia: the experience of parents and health professionals.

Shortfalls in haemoglobinopathy provision result in patients and their carers receiving inadequate support. This paper, by drawing on material from a project evaluating service provision to families caring for a child with a sickle cell disorder or thalassaemia, discusses screening and counselling services. It explores the perspectives of parents, front-line practitioners, managers and health commissioners. Poor quality care, inadequate information and professionals' insensitivity were salient themes in parental accounts. The parents' experience also confirms the problems faced by minority ethnic people in having their welfare needs recognised, more generally. Although our focus in on genetic conditions affecting minority communities in the UK, the issues we address are at the heart of the 'new genetics'.

Were practice nurses distributed equitably across England and Wales, 1988-1995?

OBJECTIVE: To examine whether variations in the number of whole-time equivalent (wte) practice nurses across family health services authorities (FHSAs) can be explained by population characteristics and the organisation of general practice. METHODS: Analysis of nine health and 16 social indicators for 98 FHSAs identified three factors underlying health care needs. These factors and seven practice characteristics were analysed by stepwise regression. A formula for allocating health care resources and a logistic growth model were used to estimate the 'expected' number of nurses. RESULTS: Past trends indicate an eventual (wte) practice nurse workforce of 12,500 (95% CI +/- 3500). Although geographical disparities have declined, there was a two-fold variation in nurse numbers across FHSAs. Around 2000 (wte) posts would be required to bring under-provided areas, mostly in northern England and metropolitan districts, up to the highest level of provision. There were more nurses in areas with higher proportions of elderly people but fewer where deprivation, morbidity and mortality levels were above average. The number of general practitioners was the most significant predictor of practice nurse provision (t = 5.0); population needs and practice characteristics explained 24% of the variation. CONCLUSIONS: The distribution of practice nurses scarcely corresponded with health care needs at the FHSA level. Despite a lack of evidence that nurses are a cost-effective addition to the primary health care team, their role and numbers will be driven by the extent to which they take on responsibilities performed by doctors. Achieving equity in practice nurse provision probably requires explicit consideration in a formula for allocating primary care funds, backed by audit of the services they provide.

Staying single in the 1990s: single-handed practitioners in the new National Health Service.

The U.K. health care system is organised around independent medical practitioners who work in community settings and act as gatekeepers for acute health interventions. Recent developments in U.K. health policy have revolutionised the environment within which all general medical practitioners (GPs) operate. The last five years in the U.K. have seen the most fundamental health service reforms since the inception of the National Health Service (NHS) in 1946: namely, the development of the internal market, an increasing emphasis on primary health care, and changes to the GP Contract in 1990. Single-handed GPs (practitioners not in partnership with other GPs) traditionally work in the most deprived areas with the greatest health and social problems. The current restructuring and the subsequent organisational and policy initiatives present particular problems for single-handed practitioners. How single-handed practitioners respond to the reforms raises particularly important debates that are significant both for themselves and for the populations they serve. Drawing upon a range of sources, this paper discusses three central issues that emerge. First, how do single-handed practices relate to the more managerial role envisaged for authorities responsible for supporting primary health care? Second, given the development of the internal market, how do single-handed practices fare in influencing local policy and priority setting? Third, to what extent can single-handed practitioners take advantage of the opportunities to hold their own budgets? Overall, in the context of recent U.K. health care reforms, what is the future for "staying single in the 1990s"?

Postmarketing surveillance of oral terbinafine in the UK: report of a large cohort study.

1. The safety profile of terbinafine, the first orally active allylamine, was monitored in the UK in a post-marketing setting. The study recruited 10,361 patients, a number which is approximately 5% of the population who received oral terbinafine in the UK during the period of the study. 2. Follow-up data were available on 9,879 patients. During the course of the study 14.5% patients reported medical events. 49% were thought to be possibly or probably related to terbinafine treatment. Seventy-four of the events (< 1%) were classified as 'serious' and of these only five were assessed as possibly or probably related to treatment. 3. Taste disturbance occurred in 0.6% of the patients and emerged as the only new adverse reaction probably attributable to terbinafine: this was significantly commoner in females and reversible on stopping treatment, with a median time to recovery of 42 days. 4. The study approach successfully combined hospital based dermatology outpatient and general practice centres. Source data verification was conducted on 13% of the cohort selected randomly. 5. Overall, the denominator-based description of the safety profile in actual practice shows terbinafine to be well-tolerated against a wide background of age and coexisting illness.

Neutropenia and agranulocytosis in patients receiving clozapine in the UK and Ireland.

BACKGROUND: Clozapine can cause reversible agranulocytosis and neutropenia. This study documents the occurrence of blood dyscrasias and identifies predisposing risk factors. METHOD: An analysis was made of the haematological, demographic, and dosage data from a central database on 6316 patients receiving clozapine over four and a half years in the UK and Ireland. RESULTS: During the study period, 2.9% of the patients developed neutropenia and 0.8% developed agranulocytosis. The peak incidence of both disorders was in the first 6-18 weeks of treatment. Fatal agranulocytosis occurred in 0.03% of patients. After the first year of treatment, the incidence of agranulocytosis significantly decreased to the order noted with some phenothiazines. CONCLUSIONS: The use of a patient monitoring service kept the haematological risks associated with using clozapine within acceptable limits, particularly in view of the benefits of this medication in treatment-resistant schizophrenia.

Negotiating the role of the practice nurse in general practice.

The debate about the role of the practice nurse is not only about practice nursing per se, but raises broader issues about the organization of primary health care. Two related issues emerge as significant: the role of the practice nurse in providing primary health care; and the effective use of the practice nurse resource in the 'new' National Health Service. This paper, by drawing on material from a qualitative study, specifically examines the type of work performed by practice nurses and the factors that influence this. The responses of practice nurses, general practitioners, Family Health Service Authority (FHSA) advisers, community nurse purchasers and managers of community nursing provider units suggest that a consensus on the future development of practice nursing is unlikely. The different stakeholders emphasized different issues, reflecting their own priorities and backgrounds. Practice nurses' accounts of the future, for example, focused on professional issues. General practitioners stressed the importance of role development which met their General Medical Service responsibilities. Purchasing agencies, provider units and FHSAs adopted a wider perspective and were more concerned to develop an effective and integrated primary health care service. The tensions generated by their different interests and perspectives, and the subsequent organizational and policy initiatives that emerge, will provide the context in which the role of practice nurses will be negotiated.

The role of the practice nurse in primary health care: managing and supervising the practice nurse resource.

This paper, by drawing on material from a qualitative study funded by the Department of Health and Welsh Office, examines the supervision and management of the practice nurse in general practice. In doing so it explores the perspectives of practice nurses, the GPs who employ them, representatives from FHSAs, those responsible for commissioning community nursing services, and managers of community nursing provider units. Within this context the paper explores the nature of the supervisory relationship between GP and practice nurse, and the wider role of the FHSA, commissioners of community nursing services and managers of community nursing provider units.

Training and education in practice nursing: the perspectives of the practice nurse, employing general practitioner and Family Health Service Authority.

Continuing training and education, although fundamental to the development of practice nursing, is subject to considerable debate. This paper, by drawing on material from a national qualitative study funded by the Department of Health and Welsh Office, explores the role of continuing training and education from the perspectives of practice nurses, general practitioners, representatives from Family Health Service Authorities (FHSAs), commissioners of community nursing services and managers of community nursing provider units. The paper demonstrates how practice nurses make use of a variety of education and training opportunities and do not seem particularly disadvantaged in their training pathways. Problems, however, have began to emerge. The informal arrangements covering training and education have been felt by many practice nurses, to leave them in a potentially needs might not be so easily accommodated. More generally, the paper concludes that debates about training and education cannot take place without referring to the type of work it is appropriate for a practice nurse to perform. The role expected of general medical services and the general development of primary health care provision, therefore, will influence practice nurses' training and educational needs.