The cataloguing of human genes and determination of common genetic variation in the human genome presents the major challenge of determining how inherited genetic variation affects our health. Epidemiologists are responsible for assessing the proportion of specific diseases associated with particular genotypes, and how these genotypes interact with environmental and lifestyle factors in disease causation. The advent of the capacity to perform Genome-Wide Association Studies has led to a rapid series of findings relating common inherited variation with risk of common cancers and other diseases and phenotypes. These associations should lead to new mechanistic insights, as well as having the potential to offer individuals cancer risk assessment. GWAS performed on breast cancer have led to the identification of common polymorphisms in FGFR2 and several other genes being reproducibly related to risk of breast cancer. GWAS in prostate cancer have identified several variants in the 8q24 region, as well as MSMB and several other genes as related to risk of prostate cancer. Translation of these findings into public health and clinical practice is complex, and made more complex by the sheer number of new findings. The new technologies that permit genome-wide assessment of common genetic variation in research studies, also permit the determination of these genotypes in individual consumers at low cost per genotype. The responsible incorporation of these new technologies into medical practice poses unprecedented challenges to our conventional models of evaluation of risk assessment tools in the population and the clinic.
03 - 07 May 2008
European Society of Endocrinology