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Iceland's genetic goldmine, and the man behind it

A "simple man, living in a backwater country, with modest aspirations" — that's how Iceland's Kari Stefansson described himself this week from his office in Reykjavik.

People who know him, or know of him, would describe him as anything but.

Stefansson is chief executive and founder of deCODE Genetics, a Reykjavik-based company that set out in 1996 to mine the unique genetic makeup of Stefansson's native land.

Two decades later, the United States and other nations and companies are seeking to follow suit, sequencing the genomes of millions of people to glean new avenues for medicine and drug development. Few places have the ideal conditions for genetic research provided by Iceland.

"There happens to be a population founder effect" here, Stefansson explained. "That means there are relatively few ancestors that account for a large percent of the current-day population."

And that means that rare genetic variants important in disease — either as culprits contributing to illness or as protectors against it — show themselves more readily in the genes of Icelanders than they would in "outbred" populations, as Stefansson puts it.

The Nordic island country's homogeneity isn't the only thing going for it when it comes to genetic research. Iceland has also kept meticulous genealogical records — some natives can trace their roots back to the 9th century.

"We have 44 kilometers of paper documents, and the oldest document is from 1185 or thereabouts," Eirikur Gudmundsson, director general at the National Archives of Iceland, said in an interview. "They are the memory of our nation, and without that we wouldn't know who we are."

DeCODE digitized these records and others from private collections, a massive project, Stefansson said. The result: an online Book of Icelanders, or "Islendingabok" in the native tongue, a treasure trove of family trees tracing Icelanders back generations.

A collection of Icelandic genealogical records dating back to the 1700s.
Jodi Gralnick | CNBC
A collection of Icelandic genealogical records dating back to the 1700s.

Gudmundsson logged into Islendingabok this week from the National Archives in Reykjavik, tracing his roots back to ancestors listed in the world's oldest existing comprehensive census, taken in 1703 on the order of the King of Denmark to investigate reports of poor conditions on the island. The website also revealed Gudmundsson's lineage went back several hundred years further, to ancient ancestors mentioned in the Sagas, the famed medieval Icelandic stories.

Upon request, the national archivist also demonstrated how closely he's related to current-day famous Icelanders — President Guðni Th. Jóhannesson (back to a common ancestor in the 1600s), and Bjork (a slightly closer connection, back to the 1700s).

"It's often done when you are meeting people," Gudmundsson said. "Saying, 'Who's he?' And 'Who's she?' And 'Do you know her? Let's check on the book of Icelanders if he or she is related to you or me.'"

Icelanders, on average, can trace a common ancestor seven generations back, Gudmundsson explained. But the likelihood of running into a closer relation can pose unique problems in romantic situations — so much so that many here check the Book of Icelanders for common ancestors before getting too serious with a potential romantic partner.

Iceland National Archivist Eirikur Gudmundsson shows Meg Tirrell the 1703 census.
Jodi Gralnick | CNBC
Iceland National Archivist Eirikur Gudmundsson shows Meg Tirrell the 1703 census.

The records are useful for more than avoiding accidentally dating a cousin; deCODE is able to marry such extensive knowledge about family connections with genetic information about disease to seek new clues for medicine in Iceland's DNA.

That work has turned up new leads in Alzheimer's disease, type 2 diabetes, cardiovascular disease, schizophrenia and more. But deCODE's existence hasn't always been an easy one; the company filed for bankruptcy in 2009, as the whole country of Iceland was going through a financial crisis.

The story is different now. In 2012, Amgen, the world's largest independent biotech company, paid $415 million to take deCODE in-house, providing funding to keep the research going, but leaving the Icelandic company "completely alone to indulge in exactly the same discovery as before they bought us," Stefansson said.

For Amgen, the relationship appears to be working out as well, according to CEO Bob Bradway.

"We've been thrilled with the progress of our collaboration with deCODE," Bradway said in an interview last week. "It's informed both projects that we've moved forward in our pipeline, as well as projects that we've concluded we need to stop based on information in the human genetics."

Last spring, Amgen announced a deCODE discovery leading to a new effort in heart disease, a mutation in a gene called ASGR1 that appears to confer protection against heart attacks and coronary artery disease for certain lucky Icelanders. The plan now: develop drug candidates to mimic the protective effects of this mutation.

It's the kind of work that governments and other companies around the world are hoping to emulate. In the U.S., there's former President Barack Obama's Precision Medicine Initiative, part of which aims to collect genomic and other health data from at least a million Americans to find new clues about disease.

Despite a change in administration — to a president who's suggested cutting funding for the National Institutes of Health, which would drive the Precision Medicine Initiative, by 20 percent -- plans for the work are full-steam ahead, said NIH Director Francis Collins.

"We are anxious to move as quickly as possible away from a 'one size fits all' approach to how to keep people healthy or manage chronic illness into something that's much more individualized," Collins said in an interview. "The 'All of Us' program has been working day and night to get all the pieces together."

The NIH is planning a "beta test" of the program in the next few months, Collins said, ahead of a full launch in the fall. The goal is to make it easy for anyone in the U.S. to join in the research project by making a phone call or getting on the web.

"You will be hearing a lot about it at that point, because we want lots of people to know about it and to take an interest in possibly signing up," Collins said.

These kinds of projects are going on worldwide — from Genomics England's 100,000 Genomes Project, to a collaboration between drugmaker AbbVie and Genomics Medicine Ireland, to Qatar, Singapore, France, Estonia, China, and many others.

"I did a little inventory about how many other programs like this around the world are getting underway," Collins said. "There are at least 50 programs that are enrolling at least 100,000 people in various countries around the world."

Many of those programs have a connection back to deCODE — not just in their model, but in the technology being used to power the work. In 2013, deCODE spun off a technology arm called NextCODE, later acquired by China's WuXi. Now WuXi NextCODE is involved in many of the major population sequencing initiatives around the globe.

"We have a fully integrated genomics platform company, starting with sample and ending with answers," WuXi NextCODE CEO Hannes Smarason said in an interview this week in the company's office in Reykjavik.

Decode Genetics CEO, Kari Stefansson
Ian Langsdon | Reuters
Decode Genetics CEO, Kari Stefansson

"In a way, what we aspire to do is in essence much like what Bloomberg did for financial data," he said. "Bring together the world's genomic data, put it onto a digital platform, and allow the user to query that information and interrogate it at scale."

Back at deCODE, Stefansson is enamored by the potential to use the power of Iceland's genetic and genealogical data to unlock understandings about the brain, and the heritability of thoughts.

"Science is well-suited to answer certain kinds of questions, but not all questions," Stefansson reflected. "We can solve the technical problems, but the epistemological problems are somewhat more difficult to answer."

The brain, despite its mysteries, "is just an organ," Stefansson said. "You inherit the function of all your other organs; why shouldn't you inherit the function of your brain?" he demanded. "Tell me."

Notoriously mercurial, Stefansson swung during a thirty-minute conversation from quoting T.S. Eliot's "The Love Song of J. Alfred Prufrock" to expressing fear for how much he takes after his father, whom he called "a nasty bastard."

He's proud of what he's accomplished with deCODE, starting in 1996 in a country "with no know-how, nothing that allowed you to do biomedical research in a competitive way," he said.

"We brought together a group of people, almost all of them Icelanders, who have been leading the world in cutting-edge science," Stefansson reflected. "I am very proud of what these kids have accomplished, and that is sort of at the top of my mind when I think back."

As for himself, Stefansson said, "There is nothing [else] that I feel that I have to accomplish."

"I just want to die sitting by this desk doing human genetics," he said. "Simple man, living in a backwater country, with modest aspirations."

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