Genetic epidemiology

The integration of epidemiological methods with genome-wide technologies has provided unprecedented insights into the complex biological mechanisms of traits and diseases in human populations. These advances have revolutionized the scope and scale of what can be done, ranging from studies of single gene variants measured in small samples through to the emergence of high-throughput genotyping, genome-wide association studies, and next-generation whole genome sequencing technologies which produce information on millions of genetic variants in thousands of individuals. In parallel, as these genomic technologies provide new opportunities to better understand disease biology, it is becoming increasingly apparent that a knowledge of genomic medicine will be essential for public health practitioners in meeting the public’s future healthcare needs. As our understanding of disease aetiology and its underlying biological mechanisms increases, there is the potential for new drug development and improved therapeutic strategies to manage disease at the population level. At the same time, there is growing interest in the use of these genetic variants to predict individual disease risk over and above classical risk factors, and to develop stratified and personalized approaches to diagnosis and disease management. The public health community has a central role to play in critically and systematically evaluating these discoveries for their potential use in disease management. Thus, in this 21st century era of genetic epidemiology and genomic science, public health practitioners cannot overlook the global relevance of genetic epidemiology on our understanding of models of disease, personalized medicine, and the relationship between individuals and populations, treatment, and prevention strategies.