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J Public Health (Oxf). 2014 Jun;36(2):243-50. doi: 10.1093/pubmed/fdt048. Epub 2013 May 10.

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

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Foundation for Genomics and Population Health, 2 Worts Causeway, Cambridge CB1 8RN, UK.
UCL Centre for Health Informatics and Multiprofessional Education (CHIME), Archway Campus, Highgate Hill, London N19 5LW, UK.
Department of Infectious Disease Epidemiology, London School of Hygiene and Tropical Medicine, 49-51 Bedford Square, London WC1B 3DP, UK.



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.


Materials for the Toolkit website ( 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.


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.


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.


chromosomal disorders; congenital disorders; health services; population-based and preventative services

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