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Vital Signs with Dr. Sanjay Gupta

Project of Genome Mapping of Iceland's Population Profiled; Possible Positive Health Effects of Geothermal Pools on Icelandic Citizens Examined. Aired 2:30-3P ET

Aired June 10, 2017 - 14:30   ET


[14:30:00] FREDRICKA WHITFIELD, CNN ANCHOR: -- time for "Vital Signs" with Sanjay Gupta.

DR. SANJAY GUPTA, CNN CHIEF MEDICAL CORRESPONDENT: 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 whiteout 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.

DR. KARI STEFANSSON, FOUNDER/CEO, DECODE GENETICS: 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 though 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 called 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 6 billion pieces of data arranged in some 3 billion base pairs making up tens of thousands of genes.

We've 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 for a very, very large number of people. For example, in this building we have sequenced the whole genomes of 40,000 people. But that claim is not completely authentic. It's a little bit false, because, yes, we have sequenced it down to individual basis, but there are certain features from the sequence that we have yet to figure out. GUPTA: Dr. Stefansson's team at deCODE has identified genes that

impacts 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: The geneticist wants to study human diversity, and what you're trying to do is to figure out how information that lies in the genome has impact on human diversity, and having the genealogy gives you the avenue by which this information is passed from one generation to the next.

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 see vials and vials of blood. This represents more than half the country's genetic material, 150,000 people. It's negative 15 degrees in here, and that will make sure these vials can be stored here in 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 variance, it's easier to trace.

STEFANSSON: That is what's 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, and in others instances they may be assets. For example, we discovered a variant a few years, three, four years back, that confers protection against Alzheimer's disease. It's rare variant found in about one percent of the Icelandic population. And if you carry this variant, you are almost completely protected against Alzheimer's disease.

[14:35:10] 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, VICE PRESIDENT, AMGEN RESEARCH AND DEVELOPMENT: 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 everyone to see. It's important to point out not everyone agrees with what they're 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 so change.

STEFANSSON: 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 bracket two gene in Iceland. It is carried by 0.8 percent of the population. Women who carry this mutation has 86 percent probability of developing a lethal cancer. We can at the push of a button find all these carriers or find encrypted I.D. of all these carriers. So if society would want to use this, they could find these women, they can approach them, and they mitigate most of this race.

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 1,000 years.


[14:41:04] GUPTA: Iceland, a landmass no larger than the U.S. 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.

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 1,000 years, and they treat them like gold.

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. Gisli Sigurdsson is a research professor here. Today he's pulled one of the Icelandic settlement books for us. This manuscript was handwritten in the 1600s, believed to be a copy of the 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?

GISLI SIGURDSSON, RESEARCH PROFESSOR, ARNI MAGNUSSON INSTITUTE: We know from Irish sources, writing in Ireland around 825, that the Irish hermits were here around 790 or thereabouts.

GUPTA: 790, wow. If you think about genealogy around the world, how unique is Iceland, how unique is a document like this?

SIGURDSSON: It's as unique as they come. In the Olympics in culture heritage, we would be I think receiving a gold medal for this book.


GUPTA: That good, huh?

SIGURDSSON: Nowhere else do you have such a complete coverage, as I say, of an entire country, even though it doesn't cover the entire population, it covers the entire country.

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 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 health care wasn't available for people, and we hadn't defined the condition until relatively recently. So here they are testing all kinds of parameters of function the 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 1,100 years. So no matter whether I like this place or not, I fit into this place. We have evolved to adjust to this place, to the darkness of the wind, to the, you know, relentless daylight during the summer. So I was probably destined to come here then, but what made me come here probably what was to push me at that point in time, was the desire to put together a large genetic portrait.

[14:45:02] And the advantages of doing it in this way is that we have the genealogy of the entire nation on a computer database going 1,000 years back in time. Having cohesive longitude in data, it gives you numerous 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, FOUNDER, INTERNATIONAL MYELOMA FOUNDATION: What we know is that myeloma is always preceded by the precursor state. So what we're learning 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 Kristinsson 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 comes up, I imagine, right? Why do people develop multiple myeloma?

DR. SIGURDUR KRISTINSSON, PRINCIPAL INVESTIGATOR, ISTOPMM PROJECT: That's a very interesting question. We actually don't know. That's the honest answer. There are some risk factors. We 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 are diagnosed with myeloma today, they have none of these risk factors. 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, what is that over there? And it's a very large aluminum smelter. 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.

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.


[14:51:25] 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 mountain side, 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. Valdimar Hafstein is a professor at the University of Iceland. For the past few years he and a group of colleagues have been studying Iceland's pools.

VALDIMAR HAFSTEIN, PROFESSOR, UNIVERSITY OF ICELAND: There is just down the road from here about 200 feet is a geothermal energy plant, and this is the runoff water from the energy plant. And if you could look just beyond that hill which they probably put there so we couldn't see it, you would see that you're basically bathing in factory runoff. And it's a gorgeous place and it's a nice spa.

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

HAFSTEIN: I don't think that's what it says in the brochure.

GUPTA: Right. But it works though, right? So this is considered clean. It's considered safe, and obviously very, very warm.

HAFSTEIN: 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 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, 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.

HAFSTEIN: Every neighborhood in the country, every neighborhood in 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 here. Look at us here twitching in the cold. We don't have the Mediterranean plaza culture. We don't have the town square as a meeting place. It's a limited winter in the year anyway. Beer was actually illegal in this country until 1989, so the pub doesn't develop as a social space either. But what did as of the 50s and 60s was the neighborhood pool. 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.

[14:55:17] GUPTA: Despite the harsh elements, Iceland often finds itself in the top three of the world's happiest countries. Valdimar and his fellow researchers believe the pools are a big reason for it.

Why is this place so happy?

HAFSTEIN: 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. We feel good there.

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

HAFSTEIN: Life is good here. And if I weren't from here, this wouldn't be my first choice of a place to live, but there's a tightknit network of friends and family here. So the pools are a part of -- good part of social life here. The 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.