Neural tube defects (NTDs) are associated with substantial mortality, morbidity, disability, and psychological and economic costs. Many are preventable with folic acid, and access to appropriate ...services for those affected can improve survival and quality of life. We used a compartmental model to estimate global and regional birth prevalence of NTDs (live births, stillbirths, and elective terminations of pregnancy) and subsequent under‐5 mortality. Data were identified through web‐based reviews of birth defect registry databases and systematic literature reviews. Meta‐analyses were undertaken where appropriate. For 2015, our model estimated 260,100 (uncertainty interval (UI): 213,800–322,000) NTD‐affected birth outcomes worldwide (prevalence 18.6 (15.3–23.0)/10,000 live births). Approximately 50% of cases were elective terminations of pregnancy for fetal anomalies (UI: 59,300 (47,900–74,500)) or stillbirths (57,800 (UI: 35,000–88,600)). Of NTD‐affected live births, 117,900 (∼75%) (UI: 105,500–186,600) resulted in under‐5 deaths. Our systematic review showed a paucity of high‐quality data in the regions of the world with the highest burden. Despite knowledge about prevention, NTDs remain highly prevalent worldwide. Lack of surveillance and incomplete ascertainment of affected pregnancies make NTDs invisible to policy makers. Improved surveillance of all adverse outcomes is needed to improve the robustness of total NTD prevalence estimation, evaluate effectiveness of prevention through folic acid fortification, and improve outcomes through care and rehabilitation.
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BFBNIB, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK
The use of genomic information to better understand and prevent common complex diseases has been an ongoing goal of genetic research. Over the past few years, research in this area has proliferated ...with several proposed methods of generating polygenic scores. This has been driven by the availability of larger data sets, primarily from genome-wide association studies and concomitant developments in statistical methodologies. Here we provide an overview of the methodological aspects of polygenic model construction. In addition, we consider the state of the field and implications for potential applications of polygenic scores for risk estimation within healthcare.
The European Collaborative on Personalized Early Detection and Prevention of Breast Cancer (ENVISION) brings together several international research consortia working on different aspects of the ...personalized early detection and prevention of breast cancer. In a consensus conference held in 2019, the members of this network identified research areas requiring development to enable evidence-based personalized interventions that might improve the benefits and reduce the harms of existing breast cancer screening and prevention programmes. The priority areas identified were: 1) breast cancer subtype-specific risk assessment tools applicable to women of all ancestries; 2) intermediate surrogate markers of response to preventive measures; 3) novel non-surgical preventive measures to reduce the incidence of breast cancer of poor prognosis; and 4) hybrid effectiveness-implementation research combined with modelling studies to evaluate the long-term population outcomes of risk-based early detection strategies. The implementation of such programmes would require health-care systems to be open to learning and adapting, the engagement of a diverse range of stakeholders and tailoring to societal norms and values, while also addressing the ethical and legal issues. In this Consensus Statement, we discuss the current state of breast cancer risk prediction, risk-stratified prevention and early detection strategies, and their implementation. Throughout, we highlight priorities for advancing each of these areas.
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FZAB, GEOZS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
IntroductionHealth inequalities in the UK are investigated and addressed by analysing data across socioeconomic factors, geography and specific characteristics, including those protected under law. ...It is acknowledged that the quality of data underpinning these analyses can be improved. The objective of this work was to gain insights from professionals working across the health and care sector in England into the type(s) of resource(s) that can be instrumental in implementing mechanisms to improve data quality into practice.DesignQualitative study based on semistructured interviews involving health and care professionals.SettingEngland.ParticipantsA total of 16 professionals, mainly from the East of England.ResultsAwareness of mechanisms that could be put in place to improve quality of data related to health inequalities was high among interviewees. However, logistical (eg, workforce time, capacity and funding) as well as data usage (eg, differences in data granularity, information governance structures) barriers impacted on implementation of many mechanisms. Participants also acknowledged that concepts and priorities around health inequalities can vary across the system. While there are resources already available that can aid in improving data quality, finding them and ensuring they are suited to needs was time-consuming. Our analysis indicates that resources to support the creation of a shared understanding of what health inequalities are and share knowledge of specific initiatives to improve data quality between systems, organisations and individuals are useful.ConclusionsDifferent resources are needed to support actions to improve quality of data used to investigate heath inequalities. These include those aimed at raising awareness about mechanisms to improve data quality as well as those addressing system-level issues that impact on implementation. The findings of this work provide insights into actionable steps local health and care services can take to improve the quality of data used to address health inequalities.
Identifying and monitoring of health inequalities requires good-quality data. The aim of this work is to systematically review the evidence base on approaches taken within the healthcare context to ...improve the quality of data for the identification and monitoring of health inequalities and describe the evidence base on the effectiveness of such approaches or recommendations. Peer-reviewed scientific journal publications, as well as grey literature, were included in this review if they described approaches and/or made recommendations to improve data quality relating to the identification and monitoring of health inequalities. A thematic analysis was undertaken of included papers to identify themes, and a narrative synthesis approach was used to summarise findings. Fifty-seven papers were included describing a variety of approaches. These approaches were grouped under four themes: policy and legislation, wider actions that enable implementation of policies, data collection instruments and systems, and methodological approaches. Our findings indicate that a variety of mechanisms can be used to improve the quality of data on health inequalities at different stages (prior to, during, and after data collection). These findings can inform us of actions that can be taken by those working in local health and care services on approaches to improving the quality of data on health inequalities.
Background
In the last comprehensive review of the literature published in 2002, little information on the prevalence of orofacial clefts was available from low- and middle-income countries (LMICs).
...Objective
To analyze published data on the birth prevalence of cleft lip and/or palate (CL/P) from LMIC.
Design
Systematic review of the literature and meta-analysis of data from original papers on the birth prevalence of cleft lip and/or cleft palate (CL/P) in LMICs between 1990 and 2014. Secondary inclusion criteria were developed to analyze lower-quality studies from countries with scarce data.
Main Outcome Measure
Birth prevalence of undifferentiated CL/P (with or without associated syndrome or other anomaly).
Results
Twenty-eight studies met strict inclusion criteria. Among 31,475,278 total births, the pooled birth prevalence of undifferentiated CL/P was 1.38 per 1000 births (95% confidence interval CI: 1.20 to 1.56). Four studies met criteria for secondary analysis, providing data on 75,627 births, with a pooled prevalence of 0.75 CL/P cases per 1000 births (95% CI: 0.56 to 0.95). Comparison of studies was limited by variable definitions of cases and of the reference population and by inconsistent reporting of outcomes. There is significant heterogeneity in the findings.
Conclusions
In LMICs, approximately 1 in every 730 children is born with CL/P. To optimize comparability across settings, future research should use a standard classification system and standard criteria for data collection and presentation. As clefting is associated with deprivation, understanding the true scale, risks, and preventive measures for orofacial clefts in LMIC is a matter of both scientific and humanitarian importance.
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CMK, NUK, OILJ, SAZU, UKNU, UL, UM, UPUK
Introduction
Using risk stratification to determine eligibility for cancer screening is likely to improve the efficiency of screening programmes by targeting resources towards those most likely to ...benefit. We aimed to explore the implications of this approach from a societal perspective by understanding public views on the most acceptable stratification strategies.
Methods
We conducted three online community juries with 9 or 10 participants in each. Participants were purposefully sampled by age (40–79 years), sex, ethnicity, social grade and English region. On the first day, participants were informed of the potential benefits and harms of cancer screening and the implications of different ways of introducing stratification using scenarios based on phenotypic and genetic risk scores. On the second day, participants deliberated to reach a verdict on the research question, ‘Which approach(es) to inviting people to screening are acceptable, and under what circumstances?’ Deliberations and feedback were recorded and analysed using thematic analysis.
Results
Across the juries, the principle of risk stratification was generally considered to be an acceptable approach for determining eligibility for screening. Disregarding increasing capacity, the participants considered it to enable efficient resource allocation to high‐risk individuals and could see how it might help to save lives. However, there were concerns regarding fair implementation, particularly how the risk assessment would be performed at scale and how people at low risk would be managed. Some favoured using the most accurate risk prediction model whereas others thought that certain risk factors should be prioritized (particularly factors considered as non‐modifiable and relatively stable, such as genetics and family history). Transparently justifying the programme and public education about cancer risk emerged as important contributors to acceptability.
Conclusion
Using risk stratification to determine eligibility for cancer screening was acceptable to informed members of the public, particularly if it included risk factors they considered fair and when communicated transparently.
Patient or Public Contribution
Two patient and public involvement representatives were involved throughout this study. They were not involved in synthesizing the results but contributed to producing study materials, co‐facilitated the community juries and commented on the interpretation of the findings and final report.
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BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK, VSZLJ
Background
Risk stratification has been proposed to improve the efficiency of population-level cancer screening. We aimed to describe and quantify the relative importance of different attributes of ...potential screening programs among the public, focusing on stratifying eligibility.
Methods
We conducted a discrete choice experiment in which respondents selected between 2 hypothetical screening programs in a series of 9 questions. We presented the risk factors used to determine eligibility (age, sex, or lifestyle or genetic risk scores) and anticipated outcomes based on eligibility criteria with different sensitivity and specificity levels. We performed conditional logit regression models and used the results to estimate preferences for different approaches. We also analyzed free-text comments on respondents’ views on the programs.
Results
A total of 1,172 respondents completed the survey. Sensitivity was the most important attribute (7 and 11 times more important than specificity and risk factors, respectively). Eligibility criteria based on age and sex or genetics were preferred over age alone and lifestyle risk scores. Phenotypic and polygenic risk prediction models would be more acceptable than screening everyone aged 55 to 70 y if they had high discrimination (area under the receiver-operating characteristic curve ≥0.75 and 0.80, respectively).
Limitations
Although our sample was representative with respect to age, sex, and ethnicity, it may not be representative of the UK population regarding other important characteristics. Also, some respondents may have not understood all the information provided to inform decision making.
Conclusions
The public prioritized lives saved from cancer over reductions in numbers screened or experiencing unnecessary follow-up. Incorporating personal-level risk factors into screening eligibility criteria is acceptable to the public if it increases sensitivity; therefore, maximizing sensitivity in model development and communication could increase uptake.
Highlights
The public prioritized lives saved when considering changing from age-based eligibility criteria to risk-stratified cancer screening over reductions in numbers of people being screened or experiencing unnecessary follow-up.
The risk stratification strategy used to do this was the least important component, although age plus sex or genetics were relatively preferable to using age alone and lifestyle risk scores.
Communication strategies that emphasize improvements in the numbers of cancers detected or not missed across the population are more likely to be salient than reductions in unnecessary investigations or follow-up among some groups.
Future research should focus on developing implementation strategies that maximize gains in sensitivity within the context of resource constraints and how to present attributes relating to specificity to facilitate understanding and informed decision making.
Graphical Abstract
This is a visual representation of the abstract.
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NUK, OILJ, SAZU, UKNU, UL, UM, UPUK, VSZLJ
Improving data access, sharing, and linkage across local authorities and other agencies can contribute to improvements in population health. Whilst progress is being made to achieve linkage and ...integration of health and social care data, issues still exist in creating such a system. As part of wider work to create the Cambridge Child Health Informatics and Linked Data (Cam-CHILD) database, we wanted to examine barriers to the access, linkage, and use of local authority data.
A systematic literature search was conducted of scientific databases and the grey literature. Any publications reporting original research related to barriers or enablers of data linkage of or with local authority data in the United Kingdom were included. Barriers relating to the following issues were extracted from each paper: funding, fragmentation, legal and ethical frameworks, cultural issues, geographical boundaries, technical capability, capacity, data quality, security, and patient and public trust.
Twenty eight articles were identified for inclusion in this review. Issues relating to technical capacity and data quality were cited most often. This was followed by those relating to legal and ethical frameworks. Issue relating to public and patient trust were cited the least, however, there is considerable overlap between this topic and issues relating to legal and ethical frameworks.
This rapid review is the first step to an in-depth exploration of the barriers to data access, linkage and use; a better understanding of which can aid in creating and implementing effective solutions. These barriers are not novel although they pose specific challenges in the context of local authority data.
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DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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