Using a “genomics tool” to develop disease prevention strategy in a low-income setting: lessons from the podoconiosis research project

Genomics research is making significant contributions to our understanding of the biology and treatment of several human diseases. With varying degrees of success, genomics has also contributed to the development of new diagnostic tools and prevention strategies in the public health settings (Brand et al. 2008). A high proportion of diseases with significant public health impact occur due to the interplay between genetic and environmental factors. In this regard, conducting genomics research on diseases with strong environmental determinants is useful not only to identify genetic causes but also to improve public health approaches that aim to modify environmental risk factors (Agurs-Collins et al. 2008; Burke et al. 2010). Genomics research may contribute to the latter by presenting evidence for stratifying targeted population by level of genetic risk. This risk stratification approach has the potential to refine disease prevention strategies by more effectively targeting individuals differentially affected by the disease (Khoury et al. 2005). Moreover, given that most common complex diseases have both genetic and environmental components, community health interventions that utilize information from both risk factors promise to have higher impact (Morabia and Costanza 2005). Family health history (FHH) is the most commonly applied genomics/genetics tool in the stratification of disease risk at community level. FHH of a disease is a composite indicator of the effects of factors such as genetics, environment, culture, behavior, and the complex interplay between these factors in families. It is a “low tech” but powerful community health genomics tool for risk prediction and stratification, disease prevention and control, and health promotion (Yoon et al. 2002). For example, a study showed that 86 % of early strokes aggregated in 11 % of families, and 72 % of all early chronic heart disease cases clustered in only 14 % of families (Williams et al. 2001), demonstrating the efficiency of FHH in predicting disease risk (Scheuner 2003). Moreover, a randomized clinical trial showed effectiveness of family-oriented education and behavioral interventions. Individuals that received preventive messages tailored to an individual's familial risk had more compliance to the recommendations than those that received standard prevention messages (Ruffin et al. 2011). Despite existing knowledge gaps, the important role of the FHH tool for clinical and primary health practice was reflected in the National Institutes of Health's Consensus Development Program (http://consensus.nih.gov/2009/familyhistory.htm). Importantly, FHH offers unique values for disease prevention in low-income countries for several reasons including the fact that it is well proven, free, and is readily available to all persons (Guttmacher et al. 2004). However, there is paucity of practical evidence on applicability of FHH for informing disease prevention programs in low-income countries, particularly in Africa. The aim of this article is to describe a practical lesson gained from epidemiologic and genetic studies in Ethiopia that informed community-based prevention approaches for targeting children at high risk for podoconiosis. First, we provide a brief description of podoconiosis and the resource challenges of prevention in endemic communities. Second, we review evidence for the role of genetic and environmental risk factors for podoconiosis, and the usefulness of FHH as a “genomics tool” capturing both risk factors for identification of high risk individuals and resource targeting. Third, we discuss an experience from a pedigree study and a community-based genomics research project that demonstrated the scientific basis and feasibility of FHH. Fourth, we highlight the practical application of this approach by the local community-oriented organization in developing a model podoconiosis prevention program that targets children at high risk. Finally, we point out a strategic direction that can be implemented at primary health care facilities in Ethiopia for systematizing and scaling up the implementation of FHH to speed up elimination of podoconiosis.