Cracking the Genetic Code to Global Health

Some of the most serious and persistent diseases of our time, cancer, diabetes, Schizophrenia, and Alzheimer’s, often share a frustrating trait: we still do not fully understand what causes them. Despite decades of research and significant advances in technology, many of these illnesses remain genetic riddles, with studies that are too fragmented or small to yield definitive answers.

In Iceland, a unique company has been working for years to make a change.

Headquartered in Reykjavík, deCODE Genetics has built one of the world’s most advanced systems for understanding how genes influence disease. What makes this possible is Iceland’s unusual combination of population characteristics: a relatively small and genetically homogeneous population, universal healthcare, and remarkably complete genealogical records that stretch back centuries.

Since its founding in 1996, deCODE has collected genetic and health data from over 160,000 volunteer participants, representing more than half of Iceland’s adult population. By combining this data with detailed family trees and medical histories, the company has built an engine for gene discovery unlike anything else in the world.

deCODE’s success is not only scientific, it is cultural. Iceland’s high levels of public trust, strong data protections, and commitment to public health have enabled the company to work closely with volunteers, clinicians, and national institutions, including the National University Hospital and the Directorate of Health—particularly during the COVID pandemic. Perhaps even more uniquely, the country’s unified healthcare system ensures consistency in medical records, while centuries of genealogical documentation allow researchers to trace inheritance patterns with exceptional clarity.

And because Iceland’s population is both relatively small (about 392,000 people) and genetically homogeneous, researchers can identify even subtle genetic influences that might be hidden in more diverse or fragmented datasets. This relative genetic simplicity stems from Iceland’s history: a founding population, limited immigration over the centuries, with detailed genealogical records that extend back over 1,000 years. Combined with universal healthcare and voluntary participation in research, this makes Iceland a uniquely powerful setting for studying the genetic roots of disease.

At the heart of deCODE’s work is a simple idea: to find the genetic variants that influence disease. To accomplish this, you need to connect two large datasets: one that describes variations in the human genome and another that represents the presence or absence of disease.

deCODE’s scientists utilize sophisticated analytics and proprietary statistical tools to uncover correlations between specific gene variants and common diseases. Their research spans a wide range of conditions, including cardiovascular disease, Schizophrenia, obesity, cancer, and neurodegenerative disorders. In recent work with the University of Iceland, deCODE developed a new AI-based method, Spliceformer-45k, to enhance the prediction of RNA splicing —a critical process in gene regulation. By applying machine learning to complex genomic datasets, deCODE is now able to accelerate the pace of discovery and deepen our understanding of how genes influence health and disease.

Among the most promising discoveries are protective variants that appear to reduce the risk of developing diseases like bipolar disorder, Alzheimer’s, or certain forms of cancer. These insights are not just academic;, they are being used to inform drug development, guide clinical trials, and point the way toward personalized medicine.

While deCODE’s roots are in Iceland, its impact is international. The company was acquired by Amgen, a leading biotechnology firm based in Thousand Oaks, California, in 2012. This partnership ensures that discoveries made in Iceland can be translated into new treatments and delivered to patients with greater reach.

Recent studies from deCODE have informed therapies targeting a range of conditions, including cardiovascular risk factors, inflammation, and metabolic disorders. By offering pharmaceutical companies deeper genetic insight into disease mechanisms, deCODE is helping shape the medicines of tomorrow.

Today, deCODE is led in part by Unnur Þorsteinsdóttir, Ph.D., a pioneering Icelandic scientist who has been with the company since 2000. As Co-Managing Director, she is helping guide deCODE into its next chapter, focusing not just on discovery but on integration, using genetic insight to inform how we deliver care, personalize treatment, and ultimately prevent disease before it starts.

The company’s next challenge is as ambitious as its past: applying what it has learned to real-world healthcare systems and demonstrating how Icelandic genetics can improve outcomes for people worldwide.