Public Health Translation of Genomics Research in Developing Countries: An Example From Ethiopia

A large proportion of diseases with significant public health impact occur due to the interplay between genetic and environmental factors. Currently, genomics research is contributing to the development of new diagnostic tools and prevention strategies in the public health settings.  Genomics research helps to modify environmental risk factors by presenting evidence for stratifying the targeted population based on the level of genetic risk. Podoconiosis (a geochemical condition resulting in bilateral swelling of the lower legs), is a good example of a preventable non-communicable disease caused by gene-environment interactions. Podoconiosis has recently been recognized by the World Health Organization as a neglected tropical disease common in tropical Africa, central and south America, and north India. A pedigree study followed by a genome-wide association study and a family based association testing revealed the genetic variants that confer susceptibility to podoconiosis. The community outreach components of the genomics research informed that podoconiosis prevention programs can be targeted to high risk children based on family health history (FHH). Following this, the Mossy Foot Treatment and Prevention Association in southern Ethiopia implemented this approach to optimize podoconiosis prevention efforts to children at increased risk.  The overall experience in southern Ethiopia has demonstrated that FHH is a “low tech”, yet accessible tool to identify high risk individuals for interventions in resource challenged settings. It has also illustrated potential of large-scale genomics research projects integrated with community-based programs to influence public health practice in developing countries.