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From the Summer/Fall 2015 Quest
Dr. Catalona’s research group has a long-standing collaboration with deCODE genetics, Inc. In this collaboration, they discovered the first genetic variant associated with prostate cancer susceptibility in 2006, and helped discover and validate a dozen more of the 105 known genetic variants associated with prostate cancer susceptibility and aggressiveness.

Now, in a groundbreaking study, researchers from deCODE genetics have sequenced the complete DNA of more 100,000 people in Iceland. This is the largest collection of DNA ever analyzed in a single human population. The team at deCODE recently published a series of papers that revealed how genomic sequencing can help us understand the roots of disease.

Initially, the scientists sequenced the genomes, or complete DNA, of 2,636 Icelanders. They combined this information with data from family trees to accurately infer the genomes of more than 100,000 other Icelanders. This is almost a third of the entire country.

The potential impact

The deCODE researchers hope this expansive project will yield new genetic discoveries and crucial data for improving diagnostics worldwide. A better understanding of genetics may help personalize healthcare.

Discovering genetic mutations

Some diseases are caused by a single genetic mutation. However, the most common diseases, such as heart disease or breast cancer, are linked to mutations of a number of different genes. Many of these mutations are rare. Thus, it is necessary for scientists to examine large groups of people to discover them. The large scale of the deCODE data could make this easier in the future.

The deCODE researchers have already used their DNA collection to discover a number of new gene mutations that could be linked to heart disease, Alzheimer’s disease and gallstones.

Human Knockouts

In certain people, some genes have been switched off, or knocked out, due to rare mutations. deCODE’s data identified more than 1,000 knocked out genes in its study population. Nearly 8% of the 104,000 people studied had at least one gene knocked out. Researchers hope that examining the health and other traits of these people will help them understand the direct effect of specific individual genes on human biology.

Similar large-scale efforts in the US

Precision medicine is an innovative approach to disease prevention and treatment that takes into account individual differences in people’s genes, environments and lifestyles. President Obama’s Precision Medicine Initiative is a new research effort to revolutionize how we improve health and treat disease. The initiative strives to promote research that accelerates biomedical discoveries that will ultimately provide clinicians with new tools to select the treatments to work best for each individual patient.

Part of the Precision Medicine Initiative is to develop a voluntary national research cohort of one million or more people who will have the opportunity to contribute their genetic profiles to research. The initiative also aims to scale up efforts to identify genomic drivers in cancer—and use that knowledge to develop more effective approaches to cancer treatment.

deCODE is based in Reykjavik, Iceland and is a wholly-owned subsidiary of Amgen. The research was presented in a series of papers in Nature Genetics in March 2015.

"We’re contributing to important tools for making more accurate diagnostics for rare diseases; finding new risk factors and potential drug targets for diseases like Alzheimer’s; and even showing how the Y chromosome, a loner in the paired world of our genome, repairs itself as it passes from father to son. Other countries are now preparing to undertake their own large-scale sequencing projects, and I would tell them the rewards are great."

– Kari Stefansson, founder and CEO of deCODE

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