deCODE leads the world in the discovery of genetic risk factors for common diseases. Our gene discovery engine is driven by our unique approach and resources, including detailed genetic and medical information on some 500,000 individuals from around the globe taking part in our discovery work and proprietary statistical algorithms and informatics tools for gathering, analyzing, visualizing and storing large amounts of data.
Finding genetic risk factors for disease requires the ability to correlate two large sets of data: on variations in the sequence of the genome on the one hand, and on variations in phenotype or condition, such as a disease or some physical trait, on the other. Our advantage arises from the complexity of the challenge. The common diseases – such as heart attack, asthma, stroke and cancer – arise from the interplay of multiple genetic and environmental and lifestyle factors. Moreover, our ability to genotype, or read specific ‘letters’ in the genome, is constantly and rapidly increasing. It is now possible, though still costly, to sequence entire human genomes relatively swiftly. This will enable an ever more detailed understanding of the rare as well as common variations that impact disease, but will require the ability to analyze all 3 billion letters in the genome for every individual studied, compared to the hundreds of thousands of single letter variations, or SNPs, measured by current SNP chips. We believe that deCODE is well positioned to lead the way in generating and analyzing whole sequence data for large scale studies.
The population approach
Since the founding of the company in 1996, deCODE has been focused on meeting this challenge by using the latest technology for analyzing DNA to assemble as much data as possible across a large and well-defined group of people – a population – and to mine it for correlations. Our track-record in gene discovery is testament to the robustness of our approach, from the era of linkage studies using microsatellite markers to the advent of whole-genome sequencing.
In our gene discovery work in Iceland, we have gathered genotypic and medical data from more than 140,000 volunteer participants, comprising well over half of the adult population. Using Iceland’s uniquely comprehensive genealogical records, deCODE has also put together a genealogy database covering the entire present day population and stretching back to the founding of the country more than 1000 years ago. The combination of size of the population, the generous participation of so many people in our discovery work, the genealogies, and high quality universal healthcare make possible very large-scale studies of virtually any common disease. At the same time, our work minimizes the selection bias that confronts research in larger, more stratified populations, and enables us to impute or predict genotypes using the genealogies, multiplying many-fold the amount of data that we can derive from genotyping and sequencing.
Products and services
Using our approach and resources, we have discovered major genetic risk factors for diseases ranging from cardiovascular disease to cancer. The ability to identify SNPs that confer significant risk of common diseases is the requisite basis for developing clinically meaningful diagnostic tests for targeting screening efforts, enabling early intervention, and improving prevention and health more generally. Our disease risk variants are also validated in many populations. The company has been instrumental in raising the scientific standards by which disease risk variants are validated. deCODE regularly publishes its discoveries, but only after replicating the link between a given genetic marker and risk of disease in multiple populations. Publishing also enables independent groups to analyze the role of deCODE’s markers in yet more populations around the world, providing additional third-party validation for the utility of these markers and the tests that are based upon them.
In the course of generating and analyzing genetic and medical data on such a large scale for such a long time, we have also developed cutting-edge statistical algorithms, software programs, and sample handling and privacy protection systems. We can thus go far beyond providing raw genotype and sequence data to make discoveries, using our portfolio of tens of thousands of haplotypes to impute genotypes and maximize the discovery potential of our work.