The Evolving Field of Genetic Epidemiology: From Familial Aggregation to Genomic Sequencing

Abstract

The field of genetic epidemiology is relatively young and brings together genetics, epidemiology, and biostatistics to identify and implement the best study designs and statistical analyses for identifying genes controlling risk for complex and heterogeneous diseases (i.e., those where genes and environmental risk factors both contribute to etiology). The field has moved quickly over the past 40 years partly because the technology of genotyping and sequencing has forced it to adapt while adhering to the fundamental principles of genetics. In the last two decades, the available tools for genetic epidemiology have expanded from a genetic focus (considering 1 gene at a time) to a genomic focus (considering the entire genome), and now they must further expand to integrate information from other "-omics" (e.g., epigenomics, transcriptomics as measured by RNA expression) at both the individual and the population levels. Additionally, we can now also evaluate gene and environment interactions across populations to better understand exposure and the heterogeneity in disease risk. The future challenges facing genetic epidemiology are considerable both in scale and techniques, but the importance of the field will not diminish because by design it ties scientific goals with public health applications.

Keywords: -omics; genetic epidemiology; genome-wide study designs; genomics; public health genetics.

Figure 1

Timeline of the development of genetic epidemiology. BRCA1, Breast cancer type 1 susceptibility protein; CFTR, cystic fibrosis transmembrane conductance regulator; CIDR, Center for Inherited Disease Research; JHU, Johns Hopkins University; NIH, National Institutes of Health; RFLP, restriction fragment length polymorphism; SNP, single nucleotide polymorphism.

Figure 2

Overview of genetic epidemiology contributions to public health.