The entire Faroese population may have its genome sequenced for free.
Credit: Wikimedia Commons/TUBS
The inhabitants of the Faroe Islands could become the world's first population to be offered full genome sequencing for free, researchers announced at
a meeting on personal genomes at Cold Spring Harbor Laboratory last week. The project, dubbed FarGen, aims to sequence the entire genome of every
citizen and to use the information for health care and research in the self-governing Danish dependency. A pilot project sequencing the genomes of 100
individuals is under way; if the money can be found, the rest of the 50,000 Faroe Islanders could follow in the next 5 years, scientists say.
Under the program, participants in the 18-island archipelago would not get individual reports, but their genome sequence would be linked to their
medical records. "Doctors can then request the information when the need arises," says Bogi Eliasen, a political scientist at the Faroese Ministry of
Health who directs the program. In this way, scientists hope to minimize chances of people accidentally discovering information they may not want to
know and sidestep some of the ethical issues around genetic testing. However, a freedom of information act gives citizens of the Faroe Islands access
to their medical records, so anyone really interested in their sequence could still get it.
Researchers in other countries, such as Iceland, Estonia, and the United Kingdom, are building national genetic biobanks. FarGen bears particular
similarities to the project launched by deCODE genetics, a company in Reykjavik, to hunt for disease genes in the Icelandic population. But deCODE, a
commercial project, ran into financial, political, and legal problems; some of its plans were stopped by the Iceand supreme court. Eliasen expects less
trouble on the Faroe Islands. The islands did have a fierce debate about the issue, which started in 1999, when deCODE approached the territory with a
plan to include its population in its gene hunt. That idea was rejected but the debate resulted in a 2005 law allowing the construction of a Faroese
genetic databank, Eliasen says.
In 2009, the islands also launched a public effort to identify people afflicted with carnitine transporter deficiency (CTD), a disease that can lead to
sudden death in young adults and is a hundred times more common among the isolated Faroese population than elsewhere. Nearly half the citizens were
voluntarily screened for the genetic defect, which can be treated by supplementing carnitine. The first five genomes to be sequenced by Illumina, a
company that builds sequencing machines and is involved in the project, will be from individuals with CTD.
Scientists are hoping the new project will give them insight into various other diseases and into the population genetics of the Faroe Islands. "This
project is first and foremost about improving the healthcare for every citizen, but of course it will be very valuable for research as well," says
Eliasen. The cost for the project would be roughly $50 million, if sequencing prices keep falling at the current rate. So far, it's not clear where
most of that money will come from, however.
The project's scientific value will depend on how many citizens sign up for it, cautions geneticist Markus Nöthen of the University of Bonn in Germany.
"This is a brave step, but it will only be successful if enough people take part," he says. But Hans-Hilger Ropers, director at the Max Planck
Institute for Molecular Genetics in Berlin, says it would be much cheaper and more useful scientifically to concentrate on patients with certain
diseases. "As it stands, the biggest benefit of the project may be to demystify the genome by identifying many variants that are common among healthy
adults and have little or no clinical relevance," he says.
Ropers is convinced that other rich countries will follow suit, however, and that such projects are necessary. "They will lay the groundwork for the
overdue implementation of genome sequencing as a universal diagnostic test for genetics risks," he says.
While the Faroe Islands have a lot of factors favoring a test run—including a national health care system with digitalized medical records, a small
government, centuries worth of detailed genealogical information, and a public informed about genetic risks—there are still hurdles. How the Faroese
data will be opened up for research while protecting information about individuals is not clear, for example. One of the goals of the pilot phase is to
find ways of guaranteeing privacy, Eliasen says. "We are certainly not planning a genomic Faroese Facebook."