A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services

Mesothelioma : are nurses being put at risk in the workplace?

Malignant mesothelioma is an aggressive, rare cancer caused by exposure to and inhalation of asbestos fibres. The cancer is associated with traditionally male-dominated industries that use asbestos, including asbestos mining and disposal, and the construction industry

Understanding the experiences of end of life care for patients with mesothelioma from the perspective of bereaved family caregivers in the UK: a qualitative analysis

Objectives: Mesothelioma is a rare, progressive cancer with a short trajectory from diagnosis to the end of life. This study explores the experiences of palliative and end of life care for patients with mesothelioma from the perspective of bereaved family caregivers. Methods: A qualitative, descriptive approach was adopted comprising face-to-face, semi-structured interviews with bereaved caregivers of patients with mesothelioma in the UK. An inductive, thematic analysis was conducted using the ‘Framework’ approach. Results: Nine bereaved caregivers participated. Four themes emerged: understanding what lies ahead; carer support; care co-ordination; managing after death: practicalities, inquests and abandonment. Caregivers need to understand what lies ahead in order to emotionally and practically prepare themselves for supporting the patient at the end of life. Information and support needs of caregivers were often distinct from those of patients, including the importance of information about the coroner's involvement. The importance of care co-ordination was emphasised, with caregivers valuing on-going relationships and a named individual taking responsibility for co-ordinating the patients care. Feelings of abandonment arose when there was no contact with healthcare professionals following the death of the patient. Conclusions: Greater opportunity for open, one-to-one communication between family caregivers and healthcare professionals is vital to enable the caregiver to prepare for what lies ahead at the end of life and prevent feelings of abandonment after the death of the patient. Improved care co-ordination and partnership working are essential for supporting both patient and caregiver at the end of life

Malignant pleural mesothelioma patients' experience by gender : findings from a cross-sectional UK-national questionnaire

Objectives: Malignant mesothelioma is an aggressive malignancy of mesothelial surfaces, most commonly those of the pleura. The aim of this study was to understand, using a national questionnaire, the gendered care experiences of patients with malignant pleural mesothelioma (MPM). Patients were asked about their experience of the diagnostic process, about information clarity, health care professionals’ knowledge, general practitioner support and overall satisfaction with care received. Setting: Recruitment of patients was carried out in three UK countries (England, Wales and Scotland) via mesothelioma clinical nurse specialists. Participants: In total, 503 patients completed the questionnaire. 460 had MPM, the remainder had other types of mesothelioma. In accord with the study protocol, only the MPM patients were included in this study. Primary and secondary measures were: (1) time from symptom to diagnosis, (2) satisfaction with the diagnosis and treatment, and (3) quality of life and well-being. Results: There were gender differences in time from symptom to diagnosis. The time from symptom to diagnosis was significantly longer for women than men (median=152 days vs men=92 days, p=0.01). Lack of a verified source of exposure to asbestos was a hindrance to private treatment access for women (95% of those that access private treatment are men). Patients were five times more likely to be satisfied if they thought that the doctors knew enough about their condition (OR=4.4, p=0.001) and nearly three times more likely to be satisfied if information was presented in a sensitive way (OR=2.8,p=0.01). Conclusions: This study has several implications for clinical practice. Our findings suggest that the diagnostic time in women might be reduced by reviewing diagnostic processes including occupational history taking, and by revising the occupational risk of mesothelioma categorisation

Effects of the COVID-19 pandemic on people with mesothelioma and their carers

Mesothelioma is a rare, life-limiting and aggressive cancer with a high symptom burden. This article explores the effect of the coronavirus disease 2019 (COVID-19) pandemic on the experiences of patients with mesothelioma and their carers. The charity Mesothelioma UK conducted a service evaluation that included two surveys – one with patients with mesothelioma and their carers, and the other with UK mesothelioma clinical nurse specialists – to explore the effects of the COVID-19 pandemic. This article presents the results of these surveys, which suggest that patients with mesothelioma and their carers have been disproportionately affected by the COVID-19 pandemic in various areas. These include treatment and investigations, communication with healthcare teams, confusion concerning shielding, and the emotional and psychological burden of the pandemic. The authors include recommendations for practice to ensure patients and their families receive optimal treatment and support during the remainder of the pandemic