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.

Preconception health care and congenital disorders: mathematical modelling of the impact of a preconception care programme on congenital disorders.

OBJECTIVE: This study aims to model the impact of preconception care on births with congenital disorders at a national level. DESIGN: Mathematical cross-sectional model based on life-table methodology. SETTING: Research conducted in Cambridge, United Kingdom. POPULATION: Women aged 15-45 years in England, 2001. METHODS: A mathematical model was constructed based on cross-sectional data from women aged 15-45 years in England undertaking one of three interventions, so as to reflect different strategies of preconception care: folic acid supplementation and fortification (representing national, universal interventions); alcohol intervention (reflecting primary care strategies); and diabetes management (targeting a population of high-risk women with a known chronic disease). MAIN OUTCOME MEASURE: Reduction in the prevalence of congenital disorders at birth. RESULTS: Between 585 (lower estimate) and 1085 (upper estimate) congenital disorders could be prevented with a national preconception programme, based on a single-year national cohort in England. This represents an 8-15% reduction in annual notifications of congenital disorders in live births annually. According to modelled estimates, folic acid fortification or supplementation, alcohol intervention, and diabetic management may result in a 46, 32-62, 53, and 54% reduction in the live birth prevalence of specific congenital disorders, respectively. In an ideal scenario, the application of this model decreases the total annual number of congenital disorder notifications by approximately one-sixth. CONCLUSION: A preconception care programme comprising three different strategies potentially can reduce the number of infants born with congenital disorders at a national level. This model provides strong support for preconception care to become a healthcare priority, and has major implications for healthcare planning.

Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK.

Inherited cardiovascular conditions (ICCs) are a group of monogenic disorders caused by mutations in the components of the electrical and contractile system of the heart or its vasculature. ICCs include arrhythmias, cardiomyopathies, inherited arteriopathies such as Marfan syndrome, muscular dystrophies, and familial hypercholesterolaemia. Epidemiological data on ICCs are sparse but a survey of the available literature suggests that there are approximately 340,000 prevalent cases of these conditions in the UK (population 61 million). As a result of dramatic advances in understanding of the molecular pathology of ICCs, more than 50 ICCs have been recognised, and diagnostic genetic tests are increasingly available. As part of a needs assessment and review of provision of ICC services, a survey of all UK ICC services was undertaken focusing on both quantitative and qualitative aspects. Service provision was found to be highly inequitable, with typically a 10-20-fold variation in referral and genetic testing rates between different UK regions. Service levels per million population are much higher in London than in all but one of the regions. The review concluded that capacity of services is inadequate to meet current or future demand and many services lack the critical mass to provide the full range of services. Recommendations are made for the development of services appropriate for the future. Services should be led by cardiology but have close links with clinical genetics services, which should provide support with specialist genetics advice and cascade testing. Finally, the international relevance of this review is considered.

Inherited cardiovascular conditions: the challenges of genomic medicine.

The report Heart to Heart published in 2009 by the Foundation for Genomics and Population Health provided an account of new health services needs arising from greater scientific and clinical understanding of inherited cardiovascular conditions. Informed by advice from an expert working group, the report makes recommendations for the development of specialised inherited cardiovascular conditions services within the UK. The report will also be of relevance internationally, wherever cardiologists and geneticists aim to provide care for these patients and their families.