Towards an interoperable healthcare information infrastructure - working from the bottom up

Historically, the healthcare system has not made effective use of information technology. On the face of things, it would seem to provide a natural and richly varied domain in which to target benefit from IT solutions. But history shows that it is one of the most difficult domains in which to bring them to fruition. This paper provides an overview of the changing context and information requirements of healthcare that help to explain these characteristics.First and foremost, the disciplines and professions that healthcare encompasses have immense complexity and diversity to deal with, in structuring knowledge about what medicine and healthcare are, how they function, and what differentiates good practice and good performance. The need to maintain macro-economic stability of the health service, faced with this and many other uncertainties, means that management bottom lines predominate over choices and decisions that have to be made within everyday individual patient services. Individual practice and care, the bedrock of healthcare, is, for this and other reasons, more and more subject to professional and managerial control and regulation.One characteristic of organisations shown to be good at making effective use of IT is their capacity to devolve decisions within the organisation to where they can be best made, for the purpose of meeting their customers' needs. IT should, in this context, contribute as an enabler and not as an enforcer of good information services. The information infrastructure must work effectively, both top down and bottom up, to accommodate these countervailing pressures. This issue is explored in the context of infrastructure to support electronic health records.Because of the diverse and changing requirements of the huge healthcare sector, and the need to sustain health records over many decades, standardised systems must concentrate on doing the easier things well and as simply as possible, while accommodating immense diversity of requirements and practice. The manner in which the healthcare information infrastructure can be formulated and implemented to meet useful practical goals is explored, in the context of two case studies of research in CHIME at UCL and their user communities.Healthcare has severe problems both as a provider of information and as a purchaser of information systems. This has an impact on both its customer and its supplier relationships. Healthcare needs to become a better purchaser, more aware and realistic about what technology can and cannot do and where research is needed. Industry needs a greater awareness of the complexity of the healthcare domain, and the subtle ways in which information is part of the basic contract between healthcare professionals and patients, and the trust and understanding that must exist between them. It is an ideal domain for deeper collaboration between academic institutions and industry

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

A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action.

BACKGROUND: In 2010 the World Health Assembly called for action to improve the care and prevention of congenital disorders, noting that technical guidance would be required for this task, especially in low- and middle-income countries. Responding to this call, we have developed a freely available web-accessible Toolkit for assessing health needs for congenital disorders. METHODS: Materials for the Toolkit website (http://toolkit.phgfoundation.org) were prepared by an iterative process of writing, discussion and modification by the project team, with advice from external experts. A customized database was developed using epidemiological, demographic, socio-economic and health-services data from a range of validated sources. Document-processing and data integration software combines data from the database with a template to generate topic- and country-specific Calculator documents for quantitative analysis. RESULTS: The Toolkit guides users through selection of topics (including both clinical conditions and relevant health services), assembly and evaluation of qualitative and quantitative information, assessment of the potential effects of selected interventions, and planning and prioritization of actions to reduce the risk or prevalence of congenital disorders. CONCLUSIONS: The Toolkit enables users without epidemiological or public health expertise to undertake health needs assessment as a prerequisite for strategic planning in relation to congenital disorders in their country or region

How early can myocardial iron overload occur in Beta thalassemia major?

BACKGROUND: Myocardial siderosis is the most common cause of death in patients with beta thalassemia major(TM). This study aimed at investigating the occurrence, prevalence and severity of cardiac iron overload in a young Chinese population with beta TM. METHODS AND RESULTS: We analyzed T2* cardiac magnetic resonance (CMR), left ventricular ejection fraction (LVEF) and serum ferritin (SF) in 201 beta TM patients. The median age was 9 years old. Patients received an average of 13 units of blood per year. The median SF level was 4536 ng/ml and 165 patients (82.1%) had SF>2500 ng/ml. Myocardial iron overload was detected in 68 patients (33.8%) and severe myocardial iron overload was detected in 26 patients (12.6%). Twenty-two patients ≤10 years old had myocardial iron overload, three of whom were only 6 years old. No myocardial iron overload was detected under the age of 6 years. Median LVEF was 64% (measured by CMR in 175 patients). Five of 6 patients with a LVEF<56% and 8 of 10 patients with cardiac disease had myocardial iron overload. CONCLUSIONS: The TM patients under follow-up at this regional centre in China patients are younger than other reported cohorts, more poorly-chelated, and have a high burden of iron overload. Myocardial siderosis occurred in patients younger than previously reported, and was strongly associated with impaired LVEF and cardiac disease. For such poorly-chelated TM patients, our data shows that the first assessment of cardiac T2* should be performed as early as 6 years old

The Economic Resource Receipt of New Mothers

U.S. federal policies do not provide a universal social safety net of economic support for women during pregnancy or the immediate postpartum period but assume that employment and/or marriage will protect families from poverty. Yet even mothers with considerable human and marital capital may experience disruptions in employment, earnings, and family socioeconomic status postbirth. We use the National Survey of Families and Households to examine the economic resources that mothers with children ages 2 and younger receive postbirth, including employment, spouses, extended family and social network support, and public assistance. Results show that many new mothers receive resources postbirth. Marriage or postbirth employment does not protect new mothers and their families from poverty, but education, race, and the receipt of economic supports from social networks do

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide

Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other epidemiological changes that could give early warning of environmental or infectious hazards. However, setting up a sustainable registry and surveillance system is resource-intensive requiring national infrastructure for recording all cases and diagnostic facilities to identify those malformations that that are not externally visible. Consequently, not all countries have yet established robust surveillance systems. For these countries, methods are needed to generate estimates of prevalence of these disorders which can act as a starting point for assessing disease burden and service implications. Here, we describe how registry data from high-income settings can be used for generating reference rates that can be used as provisional estimates for countries with little or no observational data on non-syndromic congenital malformations

Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders

In the absence of intervention, early-onset congenital disorders lead to pregnancy loss, early death, or disability. Currently, lack of epidemiological data from many settings limits the understanding of the burden of these conditions, thus impeding health planning, policy-making, and commensurate resource allocation. The Modell Global Database of Congenital Disorders (MGDb) seeks to meet this need by combining general biological principles with observational and demographic data, to generate estimates of the burden of congenital disorders. A range of interventions along the life course can modify adverse outcomes associated with congenital disorders. Hence, access to and quality of services available for the prevention and care of congenital disorders affects both their birth prevalence and the outcomes for affected individuals. Information on this is therefore important to enable burden estimates for settings with limited observational data, but is lacking from many settings. This paper, the third in this special issue on methods used in the MGDb for estimating the global burden of congenital disorders, describes key interventions that impact on outcomes of congenital disorders and methods used to estimate their coverage where empirical data are not available

Primary care morbidity in Eastern Cape Province

Background. Primary health care in rural South Africa is predominantly provided by remote clinics and health centres. In 1994, health centres were upgraded and new health centres developed to serve as a health care filter between community clinics and district hospitals.Aim. To describe the spectrum of clinical problems encountered at a new health centre in an area of high economic deprivation and compare this with an adjacent community clinic and district hospital.Design. Cross-sectional survey.Setting. A rural clinic, health centre and district hospital in Eastern Cape Province, South Africa.Methods. The International Classification of Primary Care-2(ICPC-2) was used to code data collected over a 13-week period from patients presenting at a community clinic, health centre and district hospital.Results. Altogether, 4 383 patient encounters were recorded across all three sites. Most contacts at the clinic (97%) and the health centre (80%) were with a nurse. Females over 15 years of age comprised over half of all contacts at health facilities (53%). The most common diagnosis category was respiratory (23%). Cough was the most common symptom.Thirty per cent of children up to 5 years of age were seen for immunisations. Most childhood immunisations (79%) werecarried out at the health centre.Conclusion. Of all the health care facilities surveyed, the health centre had the highest throughput of patients, indicating that the health centre is an efficient filter between the community and hospital. The ICPC-2 can be successfully used to monitor encounters at similar African health care facilities.S Afr Med J 2010; 100: 309-312