Congenital Malformations and Consequential Epidemiology

Abstract

A call for a shift in the discipline of epidemiology, away from those aimed at identifying risk factors and toward those aimed at more directly improving health - so called consequential epidemiology. This call for epidemiologists to engage in solving the biggest public health problems has been heralded for decades by Cates and more recently by Galea [Am J Epidemiol 2013; 178; 1185-94]. In consideration of the consequential epidemiology perspective, the impacts of epidemiologic research of birth defects over the recent decades are evaluated and directions for the field are proposed. While many causal factors have been identified, the causes of the majority of birth defects remain unknown. Folic acid intake notwithstanding, primary prevention of birth defects is elusive. Meanwhile, research that identifies what improves the lives of individuals born with a birth defect and how to ensure those factors are available to all affected would have great impact. In summary, a consequentialist approach to birth defects epidemiology requires a shift in research agendas and teams, but the opportunities are wide open.

Keywords: access to care; birth defects; future; history; quality of life; risk factors.