Sequencing the genome of an entire population

July 8, 2012 - 05:00

As the first country ever, the Faroe Islands are preparing to sequence the genetic material of its entire population. The FarGen project could become a model for personalised medicine throughout the world.

The Faroe Islands are an exciting and challenging tourist destination. But the Faroese population is also unique because of the people’s homogeny and their long, documented genetic history. This background will now be used to sequence the genome of the entire population. (Photo: Colourbox)

The ambitious Faroese FarGen project has set out to sequence the Faroese genome.

The project will be the first one in the world to map the genetic material of an entire population and will thereby bring the Faroes into the future of personalised genomics-based health systems.

“This is a joint community project and we will not only be creating a genetic biobank, but a completely new health system,” Bogi Eliasen said at the International Conference Copenhagenomics, which was recently held in Copenhagen.

Eliasen, the programme director of FarGen, points out that the project will resolve the Faroese's own unique genetic problems, future proof the health system in a small country with limited resources and lead the way globally.

Danish scientists are thrilled

"This is a very exciting project which can easily end up as a role model for the rest of the world," says Professor Torben Ørntoft, of the Molecular Diagnostic Laboratory at Skejby University Hospital in Aarhus.

“The vision is right and we will also be doing that here in Denmark,” he says. “Five years from now I think we’ll be mapping the genetic material of all patients entering the country’s hospitals.”

The genome database will enable doctors to look up the patient’s genetic material and e.g. check whether a certain drug will have side effects, or whether it’s right to provide preventive treatment for a hereditary disease. (Photo: Colourbox)

Professor Donald Børglum of the Institute of Biomedicine at the University of Aarhus agrees:

”This is something that many scientists across the world are working with, and for the Faroe Islands it is relatively straightforward,” he says.

“The great advantage with the Faroes is that it’s possible to find correlations between inheritance and disease – and the underlying disease mechanisms, which in the long term could provide better and more targeted treatment.”

Børglum adds that Denmark has a similar project, called Genome Denmark, in which he and his colleagues will map the Danish genetic material – initially 150 people by 2015.

New technology makes genome mapping cheaper

Genome sequencing is today’s big buzz word in scientific circles, and since the first sequencing of the human genome some ten years ago, the technology has seen a rapid development in which costs have dropped dramatically and the speed has exploded. The result is that it’s now possible to sequence a person’s genetic material for less than €3,000.

This makes it realistic to run such a comprehensive project on the Faroese population, which only counts around 50,000 people.

Improving public health
Participants at the international conference Copenhagenomics. Pictured from the left are Professor James Lupski of the Department of Molecular and Human Genetics at Baylor College of Medicine, Houston, Texas, Bogi Eliasen (centre) and Nobel Prize winner James Watson.

FarGen is similar to the Decode Genomics project that was launched in Iceland in the late 1990s.

But Decode is a commercial project, which has ‘only’ sequenced a representative sample of Icelanders, and which has so far not led to the development of any new drugs.

FarGen, on the other hand, is a publicly funded project which aims to sequence the genetic material of all citizens now and in the future, and is expected to play a key role in the efforts to improve public health.

In the Faroes, the Decode project sparked a heated debate as the Faroese were intended to be used as a control population.

Nothing came out of it, but the debate sowed some thoughts. One of the results was a new genetic regulatory framework, introduced in 2005 to protect the individual.

The interesting Faroese population

What’s particularly attractive about the Faroese population in this respect is that it is highly homogenous.

For a small country like the Faroe Islands there are some diseases that no-one else will study.
Bogi Eliasen

Most people know their ancestry back to the 1650s – some can even trace their family roots all the way back to the Vikings, who arrived on the islands some 1,000 years ago.

The islands have a public family tree, which is digitalised 200 years back in time.

All this makes it relatively easy to determine the genetic factors behind diseases.

But according to Eliasen, it’s the general framework that’s most important.

“It’s exciting with the isolated population, but the entire setup is interesting, since it makes it possible to study a host of different factors.”

He says that the Faroes are a small, compact and homogenous society without class or racial problems, that the country has a comprehensive digital health system, lots of health data and not least the genetic regulatory framework from 2005.

Facts

A timeline of gene mapping in the Faroe Islands

1998: Decode wanted to use the Faroese as a control population

1998 - 2006: Heated debate in the Faroes

2005: The Faroese genetic biobank is established

2007: The FarGen research project starts

2009 - 2012: The FarGen framework is developed

2012: The sequencing begins

In short, this means that the Faroe Islands are uniquely positioned to be a model for the rest of the world.

Inspired by a Nobel Prize winner

“The technology is ready, but it needs to be tried and tested in a place where it can be controlled. And for that purpose, the Faroes are the only suitable place in the world,” he says.

This has been spotted by international scientists, and FarGen can now boast a scientific committee which is close to the top ten in genome research, where Nobel Prize winner James Watson, who at one time headed the international Human Genome Project, has been a major source of inspiration, according to Eliasen.

The funding, which is estimated at around €270,000-400,000, has not yet been finalised.

The programme director says that they are now ready to start sequencing the first 100 locals, after which they will sequence 5,000 genomes – a process expected to be completed by the end of 2013. This experience will be used to routinely sequence the remainder of the population, including newborns.

Distinctive Faroese diseases to be studied

The genome database will be used by doctors, who can look up the patient’s genetic material and for example check whether a certain drug will have side effects, or whether it’s right to provide preventive treatment for a hereditary disease.

Facts

Facts about the Faroe Islands

18 small North Atlantic volcanic islands

Capital: Tórshavn, with some 17,000 inhabitants

Total population: around 50,000

The current population are descendants of Vikings who arrived on the islands over 1,000 years ago.

The population has for centuries stayed at around 4,000. It wasn’t until the late 19th century that it started growing.

Prime Minister Kaj Leo Holm Johannesen is a former goalkeeper for the Faroese national football team.

But the benefits will probably be clear even before that time. The past few decades have shown that the Faroese have a high incidence of some otherwise rare hereditary diseases, and even the first 100 genomes will probably prove valuable in the efforts to unravel diseases that are more or less endemic in the population on the tiny island community.

“For a small country like the Faroe Islands there are some diseases that no-one else will study,” says Eliasen.

Success depends on the population

In the end, FarGen’s success depends on the goodwill of the population – on how many of them are willing to participate.

Eliasen is cautiously optimistic and says that genetics is already an important part of Faroese culture. For instance, the heart disease CTD (carnitine transport defect) has created awareness among the locals of the need for knowledge of the genomes.

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Read this article in Danish at videnskab.dk

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Translated by
Dann Vinther

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