| 1. |
- Brownstein, Catherine A., et al.
(author)
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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
- 2014
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In: Genome Biology. - : Springer Science and Business Media LLC. - 1465-6906 .- 1474-760X. ; 15:3, s. R53-
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Journal article (peer-reviewed)abstract
- Background: There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance. Results: A total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization. Conclusions: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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| 2. |
- Mosquera Mendéz, Paola A, et al.
(author)
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Performance evaluation of the essential dimensions of the primary health care services in six localities of Bogota-Colombia : a cross-sectional study
- 2013
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In: BMC Health Services Research. - : Springer Science and Business Media LLC. - 1472-6963. ; 13, s. 315-
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Journal article (peer-reviewed)abstract
- Background: The high segmentation and fragmentation in the provision of services are some of the main problems of the Colombian health system. In 2004 the district government of Bogota decided to implement a Primary Health Care (PHC) strategy through the Home Health program. PHC was conceived as a model for transforming health care delivery within the network of the first-level public health care facilities. This study aims to evaluate the performance of the essential dimensions of the PHC strategy in six localities geographically distributed throughout Bogota city.Methods: The rapid assessment tool to measure PHC performance, validated in Brazil, was applied. The perception of participants (users, professionals, health managers) in public health facilities where the Home Health program was implemented was compared with the perception of participants in private health facilities not implementing the program. A global performance index and specific indices for each primary care dimension were calculated. A multivariate logistic regression analysis was conducted to determine possible associations between the performance of the PHC dimensions and the self-perceived health status of users.Results: The global performance index was rated as good for all participants interviewed. In general, with the exception of professionals, the differences in most of the essential dimensions seemed to favor public health care facilities where the Home Health program was implemented. The weakest dimensions were the family focus and community orientation-rated as critical by users; the distribution of financial resources-rated as critical by health managers; and, accessibility-rated as intermediate by users.Conclusions: The overall findings suggest that the Home Health program could be improving the performance of the network of the first-level public health care facilities in some PHC essential dimensions, but significant efforts to achieve its objectives and raise its visibility in the community are required.
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| 3. |
- Mosquera Mendez, Paola A., et al.
(author)
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Primary health care contribution to improve health outcomes in Bogota-Colombia : a longitudinal ecological analysis
- 2012
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In: BMC Family Practice. - : Springer Science and Business Media LLC. - 1471-2296. ; 13
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Journal article (peer-reviewed)abstract
- Background: Colombia has a highly segmented and fragmented national health system that contributes to inequitable health outcomes. In 2004 the district government of Bogota initiated a Primary Health Care (PHC) strategy to improve health care access and population health status. This study aims to analyse the contribution of the PHC strategy to the improvement of health outcomes controlling for socioeconomic variables.Methods: A longitudinal ecological analysis using data from secondary sources was carried out. The analysis used data from 2003 and 2007 (one year before and 3 years after the PHC implementation). A Primary Health Care Index (PHCI) of coverage intensity was constructed. According to the PHCI, localities were classified into two groups: high and low coverage. A multivariate analysis using a Poisson regression model for each year separately and a Panel Poisson regression model to assess changes between the groups over the years was developed. Dependent variables were infant mortality rate, under-5 mortality rate, infant mortality rate due to acute diarrheal disease and pneumonia, prevalence of acute malnutrition, vaccination coverage for diphtheria, pertussis, tetanus (DPT) and prevalence of exclusive breastfeeding. The independent variable was the PHCI. Control variables were sewerage coverage, health system insurance coverage and quality of life index.Results: The high PHCI localities as compared with the low PHCI localities showed significant risk reductions of under-5 mortality (13.8%) and infant mortality due to pneumonia (37.5%) between 2003 and 2007. The probability of being vaccinated for DPT also showed a significant increase of 4.9%. The risk of infant mortality and of acute malnutrition in children under-5 years was lesser in the high coverage group than in the low one; however relative changes were not statistically significant.Conclusions: Despite the adverse contextual conditions and the limitations imposed by the Colombian health system itself, Bogota's initiative of a PHC strategy has successfully contributed to the improvement of some health outcomes.
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| 4. |
- Mosquera Mendez, Paola A, et al.
(author)
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The impact of primary healthcare in reducing inequalities in child health outcomes, Bogota, Colombia : an ecological analysis
- 2012
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In: International Journal for Equity in Health. - : Springer Science and Business Media LLC. - 1475-9276. ; 11
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Journal article (peer-reviewed)abstract
- Background: Colombia is one of the countries with the widest levels of socioeconomic and health inequalities. Bogota, its capital, faces serious problems of poverty, social disparities and access to health services. A Primary Health Care (PHC) strategy was implemented in 2004 to improve health care and to address the social determinants of such inequalities. This study aimed to evaluate the contribution of the PHC strategy to reducing inequalities in child health outcomes in Bogota.Methods: An ecological analysis with localities as the unit of analysis was carried out. The variable used to capture the socioeconomic status and living standards was the Quality of Life Index (QLI). Concentration curves and concentration indices for four child health outcomes (infant mortality rate (IMR), under-5 mortality rate, prevalence of acute malnutrition in children under-5, and vaccination coverage for diphtheria, pertussis and tetanus) were calculated to measure socioeconomic inequality. Two periods were used to describe possible changes in the magnitude of the inequalities related with the PHC implementation (2003 year before - 2007 year after implementation). The contribution of the PHC intervention was computed by a decomposition analysis carried out on data from 2007.Results: In both 2003 and 2007, concentration curves and indexes of IMR, under-5 mortality rate and acute malnutrition showed inequalities to the disadvantage of localities with lower QLI. Diphtheria, pertussis and tetanus (DPT) vaccinations were more prevalent among localities with higher QLI in 2003 but were higher in localities with lower QLI in 2007. The variation of the concentration index between 2003 and 2007 indicated reductions in inequality for all of the indicators in the period after the PHC implementation. In 2007, PHC was associated with a reduction in the effect of the inequality that affected disadvantaged localities in under-5 mortality (24%), IMR (19%) and acute malnutrition (7%). PHC also contributed approximately 20% to inequality in DPT coverage, favoring the poorer localities.Conclusion: The PHC strategy developed in Bogota appears to be contributing to reductions of the inequality associated with socioeconomic and living conditions in child health outcomes.
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