Editorial: Genetics and population health

Abstract

There has been a widespread belief that genetic disorders are of little importance in low income countries, an opinion that is perhaps understandable given the often daunting prevalence of infectious diseases and nutritional problems faced by these populations. The failure to recognize genetic disorders as significant contributors to the overall disease profile of low income countries is, however, a serious error. For example, an estimated 7.6 million children are born per year with a severe congenital or genetic disorder (Alwan and Modell 2003), and one in seven of the world’s population are carriers of a haemoglobin disorder (WHO 2002). In both cases a large majority of those affected are resident in low income countries, which currently comprise over 80% of the global population (PRB 2004). There is also convincing preliminary evidence that some sub-populations are genetically predisposed to contract serious infectious diseases, including tuberculosis and leprosy (Pitchappan 2002). Further, because of the requirement to treat β-thalassaemia major individuals with regular blood transfusions, in 2003 Thalassaemia International Federation estimated that 30–80% of all cases worldwide were infected with hepatitis B and/or hepatitis C, a testament to the lack of adequate blood screening facilities in low income countries. Thus the contribution of genetic disorders to global population disease profiles, directly and indirectly, is of major significance