Genetics of common complex diseases: a view from Iceland.

Abstract

In the past decade, large scale genotyping has led to discoveries of numerous sequence variants that confer increased risk of many common complex diseases. Interestingly, a substantial proportion of pioneering genetic work has originated from the small nation of Iceland and has been facilitated by an extensive genealogy database. We provide examples of relevant observations made so far in several major disease categories central to internal medicine practice. Some of these findings offer new mechanistic clues into the pathophysiology of common disorders and may suggest novel approaches in diagnosis and drug therapy. However, a number of unresolved issues remain that will be subject of future research, driven by recent advances in high-throughput sequencing of the genome. At the same time, we are ready to begin transforming the abundant existing genetic data into practical clinical knowledge with the aim of improving the delivery of medical care. The era of precision medicine has arrived.