A Systematic Approach to Genetic Epidemiology in the 21st Century
Genetic epidemiology involves identifying the heritable determinants of common disease in human populations and understanding the complex interactions between genetic and environmental risk factors. This field faces a variety of challenges in the 21st century arising from issues such as a) the very large sample sizes required to detect important disease associations and b) the enormous amount of genotype data generated from new technologies such as Affymetrix SNP chips. In an effort to address these issues we are developing a systematic approach to conducting a new admixture gene mapping study of ~3000 Maori in New Zealand.
This paper will critically examine the spectrum of methods/techniques required to enable large-scale complex disease studies including 1. DNA sample collection (blood samples vs buccal cell swabs), 2. DNA sample tracking systems (eg. barcoding) 3. DNA extraction (Qaigen kits vs MagnaPure instrument), 4. DNA quantitation (Pico green vs Real-time PCR) 5. Polymorphism screening (eg. DNA pooling and the Affymetric SNP chip platform), 6. Data management and statistical analysis.
We hope to establish a comprehensive system for conducting powerful, yet cost effective studies in genetic epidemiology. This model should provide valuable guidelines for other laboratories wishing to initiate new studies in this field or existing labs wishing to adopt and integrate the new DNA-based technologies that are continually being developed in the 21st century.