Towards global data on congenital disorders

The October special issue of the Journal of Community Genetics contains a series of papers that describe the approach used to the develop The Modell Global Database of Congenital Disorders (MGDb). This effort began in the 1980s as an exercise to develop country specific estimates for haemoglobin disorders in order to inform the development of community genetics services. It has since evolved and been instrumental in ensuring that congenital disorders (also called birth defects) were an important element of the Global Burden of Disease study. The MGDb currently contains country, regional and global estimates of the birth prevalence and outcomes of congenital disorders that can be used as a starting point for service planning.

The need for data on congenital disorders

Congenital disorders are a diverse group of conditions arising before birth, and can be evident at birth or later in life. Examples include neural tube defects or genetic disorders such as sickle cell disease.

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This group of conditions is important from a global health perspective given their impact on child mortality and disability. Therefore, activities targeted at the care and prevention of congenital disorders are an important part of Maternal, Newborn and Child Health policies and services. A challenge for many countries is deciding what activities to undertake.

Given the wide range of different conditions, services for the care and prevention of congenital disorders need to be equally diverse. They encompass a variety of activities ranging from population level initiatives such as folic acid fortification to the development of services for the early identification and treatment of those with genetic disorders or congenital malformations.

Most high income countries have well established services for the care and prevention of these disorders. This has been informed through data collection, epidemiological analysis and policy development to identify and implement key services. The UK government has recently announced  folic acid will be added to flour as a means to prevent neural tube defects; cases of which are high in comparison to other European countries. 

Robust data is pivotal to better decision making at the global, regional, health ministry and local levels. However, data collection and analysis can be daunting tasks for low and middle income countries, especially where information systems are not yet adequately developed. It can also create a chicken and egg situation where policy action is hindered by lack of robust data and concerted effort is needed in order to gather data for policy. Data gathering is not an easy task and requires a considerable amount of investment. The hope is that initiatives such as MGDb can act as a useful stepping stone by providing initial data to kick-start this process.

Working together to reduce death and disability

Global efforts to understand the epidemiology of congenital disorders have been underway for many years. Yet, differences in technical terminology used and the approaches taken in developing the estimates are resulting in discrepancies between global estimates. Different estimates and data sources serve different purposes. Sometimes what is needed is fine grained information on particular sub-types of congenital disorders and other times we require a broad brush picture. The existence of conflicting estimates can create a barrier for policy action due to lack of clarity about which estimates to use. However, this should not be used as an excuse, rather, this should be seen as an opportunity to recognise the strengths and weaknesses of available data.

Ultimately all models are wrong – and the estimates of MGDb are by no means perfect. But this should not stop them being used to move the agenda forward and begin the journey to support individuals, families and communities in caring for and preventing congenital disorders.

Dr. Sowmiya Moorthie is a lead contributing author on many of the papers for this special issue of the Journal of Community Genetics, and also acted as one of the guest editors.