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Vital Signs with Dr. Sanjay Gupta

Genetic Research in Iceland. Aired 2:30-3p ET

Aired March 19, 2017 - 14:30   ET


DR. SANJAY GUPTA: This is Iceland. Desolate. Remote. Isolated. A natural wonder boasting dramatic waterfalls and icy glaciers. What's happening on this volcanic rock in the middle of the Atlantic is a research revolution that could change the medical landscape for us all.

February in Iceland and it's cold. Alternating between white-out blizzards and brilliant sunlight. We're in Reykjavik, Iceland's capital city, home to a third of the country's population. That might sound like a lot, but the total population here only numbers some 330,000 people.

KARI STEFANSSON: We have made probably as much contribution as the rest of Europe put together.

GUPTA: Meet Kari Stefansson. Twenty years ago he had an ambitious idea, to map the genome of Iceland's entire population, through his company, called DeCode.

STEFANSSON: When you begin to look at genetics, when you begin to think about life in general, it turns out that all life on earth is rooted in DNA. There is no life on earth that is not based on information that lies in this miraculous micro-molecule that we call DNA.

GUPTA: So what does that mean exactly? Well, the genome is our entire set of DNA, the chemical compound that contains genetic instructions. It is the code that tells our bodies how to function, from our organs to our cells. Ultimately we're talking about six billion pieces of data, arranged in some three billion base pairs, making up tens of thousands of genes.

GUPTA: We have been able to map the human genome for the last 16, 17 years now. But where are we in the world of genetics right now?

STEFANSSON: We claim that we can sequence the whole genomes, or very, very last number of people. For example, in this building we have sequenced the whole genome, so 40,000 people. But that claim is not completely authentic; it's a little bit false. Because yes, we can, we have sequenced it down to individual basis, but there are certain features in the sequence that we have yet to figure out. So I think that the key to developing your understanding of the function of the brain, which is the only organ in the body that we don't understand adequately? I think that the key to that lies in the use of the genetics. GUPTA: Dr. Stefansson's team at DeCode has identified genes that impact someone's chances of developing everything, from Alzheimer's to heart disease to breast cancer, and they're even down to a level of problem-solving and creativity. He can tell you, for example, based on your genetic makeup, if you like crossword puzzles or have an artistic mind.

STEFANSSON: Human genetics is the study of human diversity, and what you are trying to do is to figure out how information that lies in the genome has impact on human diversity and having, for someone, the genealogy gives you the avenue by which this information is passed from one generation to the next and I'm absolutely convinced that we have been leading this field for the past 15 years at least, because of the advances that lies in having all of this data.

GUPTA: In case you're wondering what all this looks like, this is it. This is the basement of DeCode and as far as the eye can see, you're seeing vials and vials of blood. This represents more than half the country's genetic material, 150,000 people. It's -15 degrees in here and that'll make sure these vials can be stored here into perpetuity.

There's something else also important about Iceland. The small population is relatively homogenous. As much as 90 percent of the people here are considered pure Icelandic. That means not much diversity in the gene pool; the perfect control group for scientists at DeCode. When they find a mutation or variant, it's easier to trace.

STEFANSSON: That is what is so interesting about this is that many of these variants that we are finding will probably turn out to be double-edged swords. In some instances they may be a liability, in other instances they may be assets. For example, we discovered a variant a few years back, three, four years back that confers protection against Alzheimer's disease. It's a rare variant which is found in about one percent of Icelandic population and if you carry this variant, you are almost completely protected against Alzheimer's disease.

GUPTA: The idea is this. Replicate what the gene is doing naturally in medicine. DeCode is privately owned and its parent company, Amgen, is in the pharmaceutical business. Amgen is taking the information coming from DeCode and then working to turn it into medications.

Sean Harper is the head of Research and Development for Amgen. He visits DeCode several times a year and says one of the most promising projects at the moment is a drug for heart disease.

SEAN HARPER: We start our work with a certainty that the target that we're going after is actually relevant in humans in the pathophysiology of the disease. That's what the genetics is telling you. What's amazing about the human genetics is they can actually establish causality of the link of these genes with disease.

GUPTA: Harper says half of Amgen's current research projects are influenced directly by genetics and of that, at least 90 percent is from the work happening in this building. DeCode does publish all their findings so the research is available for anyone to see. Yet it's important to point out not everyone agrees with what DeCode is doing. Critics are raising questions about privacy and what to do with all this information.

For now, all the data here is encrypted and anonymous. Kari Stefansson hopes that will soon change.

STEFANSSON: We have insight into the genome of all Icelanders today. We do. And one of the big question is, how can society here take advantage of it? And there are some obstacles that society has to get over before it will use it and I can give you a very good example of that.

There is, as I said before, there's just one mutation in the BSEA (ph) tour, the Bracket Two (ph) gene in Iceland. It is carried by .08 percent of the population. Women who carry this mutation have 86 percent probability of developing a lethal cancer. We can, at the push of a button, find all of these carriers or find encrypted I.D. of all of these carriers. So if society would want to use this, they could find these women, they could approach them and they could mitigate most of this risk. It has always been considered a virtue in our culture to know as much about yourself as possible, and I don't think that in that there is any exception for genetics. We just want to know who we are.

GUPTA: Understanding who they are; it's a huge part of Icelandic culture and it has a history, rooted in Viking times, going back more than a thousand years.


GUPTA: Iceland, a land mass no larger than the US state of Kentucky, formed by volcanic activity with the population shaped by the isolation and extreme natural landscape. There's a tight bond here, fueled by a strong knowledge of identity, enabling researchers to do extensive genetic studies.

MALE: Of course, none of what we're talking about works as well unless you have really detailed, historical records. That's particularly unique about Iceland. They have these genealogical records that go back more than a thousand years and they treat them like gold.

GUPTA: This is the Manuscript Institute at the University of Iceland in Reykjavik. In this vault original manuscripts that date back hundreds of years, some nearly a millennium old. Jeezly Sigurdsen (ph) is a research professor here. Today he's pulled one of the Icelandic settlement books for us.

JEEZLY SIGURDSEN (ph): The Eastern theorist DeMolay (ph) was a man, a Roman Catholic papa (ph) was a Roman Christian (ph).

GUPTA: This manuscript was handwritten in the 1600s, believed to be a copy of a book from the 14th century and that one is believed to be a copy from the 1200s. You get the idea.

How far back are we talking here? SIGURDSEN (ph): We know from our resources, Daquille (ph) was writing in Ireland around 825 and that the Irish hermits were here around 790.

GUPTA: Seven-ninety.

SIGURDSEN (ph): Or thereabouts.


SIGURDSEN (ph): They were exploring the island. They were sailing across, coming up with several suggestions for a name, just an island, so a land of snow, Carolus (ph) was so self-obsessed a character by the name of Carla and then Flokey (ph) who saw the drift ice from Greenland, from mountain that they climbed and he came up with the Iceland name.

GUPTA: If you think about genealogy around the world, how unique is Iceland? How unique is a document like this?

SIGURDSEN (ph): This is as unique as they come. In the Olympics in cultural heritage, we would be I think receiving a gold medal for the base code (ph). Because no, no --

GUPTA: It's that good, huh?

SIGURDSEN (ph): Nowhere else do you have such a complete coverage, as I say, of, well, an entire country, even though it doesn't cover the entire people, it covers the entire country.

GUPTA: And you read a book like this and somehow you know you're probably reading about your ancestors.

SIGURDSEN (ph): Oh, yeah. And that's how to Lester Nostaligian (ph), create 20th century writers. He claimed that Iceland, this would be the only nation who originates in a book.

GUPTA: At the DeCode offices there are reminders of what's possible here. And why.

STEFANSSON: This is a family tree of asthma. This is one big family. In the last two generations you have patients with asthma and they can be traced to one ancestor who is probably, if I remember correctly, born in 1651.

GUPTA: So going back in over, 400 years, whatever, one ancestor and then all this family tree and then the red...

STEFANSSON: In the last two generations there are asthma patients, but before that people were rarely diagnosed with asthma, so it doesn't mean that among the others there were not people who suffered from the same disease. It's just that medicine or healthcare wasn't available for people and we hadn't defined the condition until relatively recently.

So here they are testing all cancer (INAUDIBLE) as a function and structure of the eye. GUPTA: For Kari Stefansson's team at DeCode, these genealogical records are a crucial clue, providing a look at the past that could help researchers treat us in the future. The team even digitized the traditional Book of Icelanders, meaning every person in Iceland can log onto a website and trace their ancestry.

It's a strong pull of national identity, one that brought Dr. Stefansson back after 20 years away.

STEFANSSON: You see, my family has lived here for 1100 years. So no matter whether I like this place or not, I fit into this place. We have a world to adjust to this place, to the darkness of the winter, to the, you know, relentless daylight during the summer. So I probably, I was probably destined to come here and then, but what made me come here probably was so to push me at that point in time was the desire to put together a large genetic project. And the advantage of doing it in this way that we did, is that we had the genealogy of the entire nation on a computer database going a thousand years back in time, having access to longitudinal data, having access to the birth rates, the birth lanes (ph) of all of their patients with heart attack in the country, having cohesive longitudinal data, it gives you miraculous possibilities when it comes to figuring out what is behind disease.

GUPTA: This intersection of genealogy and genetics is inspiring other studies as well. Forty minutes from Reykjavik sits the fishing town of Akranes. For reasons still unclear to scientists, this small town has a higher than average rate of Multiple Myeloma. That's a relatively rare cancer that forms in bone marrow.

DR. BRIAN DURIE: What we know is that Myeloma is always preceded by the precursor state, so what we're hoping to learn is why do people develop that precursor state? And perhaps even more importantly, why do they progress from the precursor into the active Myeloma.

GUPTA: Dr. Brian Durie is the head of the International Myeloma Foundation. The IMF formed a partnership with the team in Iceland, headed by Sigurdur Christensen (ph) to study Myeloma in Iceland. Using routine blood tests, participants will be monitored for the precursor and then treated immediately if signs of the disease exist. The goal? To enroll every adult over the age of 40. That adds up to more than 140,000 people. It's an unprecedented study. Already in just a few months they're halfway there and it all started in Akranes.

GUPTA: The question of nature versus nurture always come up, I imagine. Right? Why do people develop Multiple Myeloma?

MALE: That's a very interesting question.

DURIE: Very, very good question, yes.

MALE: We actually don't know. That's the honest answer. There are some risk factors, you know, that Africans and African Americans have about twice the incidents of Myeloma. We know that it runs a little bit in the family, but actually most people that have been diagnosed with Myeloma today, they have none of these risk factors. So most people just turn up with Myeloma out of nowhere.

DURIE: Exactly. So when I first came to Iceland in September, to this beautiful place, this pristine place, it seemed like, why would people get cancer here? You know, everything is so beautiful. And so then I looked across the bay to Akranes and I said, you know, "What's that over there?" and it's a very large aluminum smelter. And so I realized that even in a pristine place like Iceland there are some aspects where people could be exposed to toxic chemicals and maybe this could be a risk factor that we could evaluate here. Because we have such an amazing genetic understanding, we can overlay the nurture and see what aspect is maybe contributing.

GUPTA: So, the population, the genealogy, the genetics, all the pieces that come together to make Iceland what it is. And there's one more curiosity here. Despite the winter cold and lack of sun, Iceland is a very happy country. Why? Well, let's just say there might be something in the water.


GUPTA: Iceland is a country of brilliant colors and in the winter you're most likely to find them up in the sky. The Northern Lights, one of Earth's most beautiful views. Light from the atmosphere dances across the night sky. At 2:00 a.m. on a mountainside our cameraman captured this stunning display. During the day, winter often presents a different color in Iceland, mostly gray or white, from overcast skies and snowstorms. But you can find more color if you know where to look.

The turquoise waters, black lava rocks. And white mud? Must be the Blue Lagoon. This is one of Iceland's most iconic destinations. Year-round, day and night, regardless of weather, you'll find people from all over the world bobbing in the waters of the Blue Lagoon.

Voldemar Hoffstein (ph) is a professor at the University of Iceland. For the past two years he and a group of colleagues have been studying Iceland's pools.

VOLDEMAR HOFFSTEIN (ph): There's just down the road from here, not 200 feet is a geothermal energy plant and this is the run-off water from the energy plant. And if you could look just beyond that hill, which they probably put there we couldn't see it, you'd see that you're basically bathing in factory run-off. And it's a gorgeous place and it's a nice spa. It's a --

GUPTA: You think people here know that they're bathing in factory run-off water?

HOFFSTEIN (ph): Well, I don't think that's what it says in the brochure.


GUPTA: That's right. But it works, though. Right? I mean, so this is considered clean, it's considered safe and obviously very, very warm. HOFFSTEIN (ph): Exactly. It's clean, safe and warm and if you look

around you'll see these strange, ghostly faces of white, these white masks of silica that people have put on, silica mud.

GUPTA: Researchers at the Blue Lagoon have been studying this and they found that the silica mud can help treat skin conditions like psoriasis, drawing in visitors from around the globe.

So the Blue Lagoon is one thing, but those are mainly for the tourists. You want to go see the people who live in the community? You've got to come to a pool like this. Right in the neighborhood, the same geothermal sort of thing, but this is where the locals hang out.

You know what? I'm going to give it a shot.

This is the West End Pool, in Reykjavik. We'll spare you my mad dash from the locker room to the hot tub, also known as a hot pot, I couldn't get in the water fast enough. The air temperature was hovering around freezing, but the water temperature was hot, around 38 degrees Celsius, that's 100 degrees Fahrenheit. Swimming pools exist all across Iceland because of the switch to geothermal energy in the 1950s and '60s. That's when the country decided to harness the awesome power of the water bubbling under the surface here, all heated by volcanic activity underground.

HOFFSTEIN (ph): Every neighborhood in the country, every neighborhood and town, every small town in the country has one of these communal pools and it's at this point considered more or less a civil right to have one within walking distance of your home. And it's become a focus point of public life, really. This is a cold country. Look around you and you know, look at us here. Ah, twitching in the cold. It's, we don't have the Mediterranean Plaza culture, we don't have the town square as a meeting place that much. It's a limited window in the year, anyway.

Beer was actually illegal in this country until 1989, so the pub didn't develop as a social space either. But what did, as of the '50s and '60s was the neighborhood pool and it's a Nordic country; we're not very outgoing. But when we meet in the pool we chat, that's a space of liberty where you're at ease to talk to others.

GUPTA: What is it about the pool that sort of breaks down that barrier?

HOFFSTEIN (ph): People from all walks of life go to the pool and so you have mixing the same hot tub people living in the area, whether it's the professor or the student, the construction worker or the businessman, the billionaire, the car salesman, they all meet up and you know, topics of public interest at any given moment are hammered through in the hot tubs.

GUPTA: Despite the harsh elements, Iceland often finds itself in the top three of the world's happiest countries. Voldemar and his fellow researchers believe the pools are a big reason for it.

Why is this place so happy?

HOFFSTEIN (ph): If you think of health and wellness, not just as a matter of physical health and you know, being free from disease, but also the mental and the social aspects of health and wellness, I think the heat, the geothermal heat and the communal pools have a lot to do with that, that we, we feel good there.

GUPTA: Like Kari Stefansson, Voldemar left Iceland and then came back home.

HOFFSTEIN (ph): Life is good here. You know. And if I weren't from here this wouldn't be my first choice of a place to live. But there's a tight-knit network of friends and family here, so the pools are a part of, a good part of social life here. So geothermal living is good here.

GUPTA: Appropriately, it was snowing while we were in the pool. No one even batted an eye. Another experience as uniquely Icelandic as this place and its people, molded by the extreme elements, a landscape that could change science and medicine all over the world.