Views of patients about sickle cell disease management in primary care: a questionnaire-based pilot study.

OBJECTIVES: To determine how patients with sickle cell disease (SCD) perceive the quality of care that they receive from their primary healthcare providers. DESIGN: A questionnaire-based pilot study was used to elicit the views of patients about the quality of care they have been receiving from their primary healthcare providers and what they thought was the role of primary care in SCD management. SETTING: Sickle Cell Society and Sickle Cell and Thalassaemia Centre, in the London Borough of Brent. PARTICIPANTS: One hundred questionnaires were distributed to potential participants with SCD between November 2010 and July 2011 of which 40 participants responded. MAIN OUTCOME MEASURES: Analysis of 40 patient questionnaires collected over a nine-month period. RESULTS: Most patients are generally not satisfied with the quality of care that they are receiving from their primary healthcare providers for SCD. Most do not make use of general practitioner (GP) services for management of their SCD. Collecting prescriptions was the reason most cited for visiting the GP. CONCLUSION: GPs could help improve the day-to-day management of patients with SCD. This could be facilitated by local quality improvement schemes in areas with high disease prevalence. The results of the survey have been used to help develop a GP education intervention and a local enhanced service to support primary healthcare clinicians with SCDs ongoing management

Patients' views on improving sickle cell disease management in primary care: focus group discussion.

OBJECTIVES: To assess sickle cell disease (SCD) patient and carer perspectives on the primary care services related to SCD that they receive from their general practitioner (GP). DESIGN: A focus group discussion was used to elicit the views of patients about the quality of care they receive from their primary health-care providers and what they thought was the role of primary care in SCD management. The focus group discussion was video recorded. The recording was then examined by the project team and recurring themes were identified. A comparison was made with notes made by two scribes also present at the discussion. SETTING: Sickle Cell Society in Brent, UK. PARTICIPANTS: Ten participants with SCD or caring for someone with SCD from Northwest London, UK. MAIN OUTCOME MEASURES: Patients perceptions about the primary care services they received, and a list of key themes and suggestions. RESULTS: Patients and carers often bypassed GPs for acute problems but felt that GPs had an important role to play around repeat prescriptions and general health care. These service users believed SCD is often ignored and deemed unimportant by GPs. CONCLUSION: Participants wanted the health service to support primary health-care providers to improve their knowledge and understanding of SCD. Key themes and suggestions from this focus group have been used to help develop an educational intervention for general practice services that will be used to improve SCD management in primary care

Consistency and accuracy of diagnostic cancer codes generated by automated registration: comparison with manual registration

BACKGROUND: Automated procedures are increasingly used in cancer registration, and it is important that the data produced are systematically checked for consistency and accuracy. We evaluated an automated procedure for cancer registration adopted by the Lombardy Cancer Registry in 1997, comparing automatically-generated diagnostic codes with those produced manually over one year (1997). METHODS: The automatically generated cancer cases were produced by Open Registry algorithms. For manual registration, trained staff consulted clinical records, pathology reports and death certificates. The social security code, present and checked in both databases in all cases, was used to match the files in the automatic and manual databases. The cancer cases generated by the two methods were compared by manual revision. RESULTS: The automated procedure generated 5027 cases: 2959 (59%) were accepted automatically and 2068 (41%) were flagged for manual checking. Among the cases accepted automatically, discrepancies in data items (surname, first name, sex and date of birth) constituted 8.5% of cases, and discrepancies in the first three digits of the ICD-9 code constituted 1.6%. Among flagged cases, cancers of female genital tract, hematopoietic system, metastatic and ill-defined sites, and oropharynx predominated. The usual reasons were use of specific vs. generic codes, presence of multiple primaries, and use of extranodal vs. nodal codes for lymphomas. The percentage of automatically accepted cases ranged from 83% for breast and thyroid cancers to 13% for metastatic and ill-defined cancer sites. CONCLUSION: Since 59% of cases were accepted automatically and contained relatively few, mostly trivial discrepancies, the automatic procedure is efficient for routine case generation effectively cutting the workload required for routine case checking by this amount. Among cases not accepted automatically, discrepancies were mainly due to variations in coding practice

The implication of identifying JAK2V617F in myeloproliferative neoplasms and myelodysplastic syndromes with bone marrow fibrosis

The myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) occasionally demonstrate overlapping morphological features including hypercellularity, mild/nonspecific dysplastic changes and variable bone marrow fibrosis. Thus, when the associated bone marrow fibrosis results in a suboptimal specimen for morphological evaluation, the descriptive diagnosis “fibrotic marrow with features indeterminate for MDS versus MPN” is often applied. The JAK2V617F mutation was recently shown to be frequently identified in MPN, but it is rarely present in other myeloid disorders. However, the diagnostic utility of JAK2V617F screening in hypercellular bone marrow specimens with fibrosis has not been previously investigated. Using a real-time polymerase chain reaction melting-curve assay capable of detecting JAK2V617F in archived fixed materials, we retrospectively studied JAK2V617F in 45 cases with fibrotic hypercellular bone marrow at initial presentation, including 19 cases initially described as “with features indeterminate for MDS versus MPN”. These 19 cases were reclassified into more specific categories of MDS (n = 14) or MPN (n = 5) based on the availability of subsequent clinical data and/or bone marrow examinations. The JAK2V617F allele was identified in 17 out of 18 BCR/ABL gene-negative MPN cases with marrow fibrosis, whereas only wild-type alleles were identified in the remaining non-MPN cases. Importantly, JAK2V617F alleles were seen in all five cases of “with features indeterminate for MDS versus MPN” at initial presentation that were later determined to be MPN, but they were absent in the 14 cases later determined to be MDS. Our results suggest that JAK2V617F allele evaluation can be a useful ancillary test for discriminating MDS from MPN in specimens with bone marrow fibrosis