Because of isolation from the worldwide DNA pool for the past 1,200 years, Faroese population is vulnerable to recessive gene disorders
Because of the dramatic—and still falling—cost of DNA sequencing, an ambitious project is launching with the goal of sequencing the full DNA of all 50,000 residents of the Faroe Islands. When completed, this project has the potential to reshape molecular diagnostics and clinical laboratory testing.
FarGen is the name of this effort and pathologists and clinical laboratory managers will want to follow its progress. Organizers of this unique effort expect that it will speed up the use of personalized medicine in mainstream medicine. This tiny, self-governing Danish land, located between Iceland and Norway, is moving forward with plans to decipher complete DNA sequences for every one of its 50,000 citizens.
Ethnic Petri Dish for Studying Uses for Genome Sequencing
The Faroes is an ideal testing ground for DNA screening of a defined population, suggested a Bloomberg News. That is because its people have been relatively isolated from outside DNA influence since about 800 AD, when their wayward Viking ancestors first settled there.
This isolation has made the populace vulnerable to disorders caused by recessive genes. For example, carnitine transporter deficiency (CTD), a condition that can be fatal, is 1,000 times more common in the Faroes than anywhere else in the world. Carnitine deficiency prevents cells from turning certain fats into energy.
This disorder, which is easily treatable with carnitine supplements, typically first appears in infants and young children. Symptoms of CDT include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals, but all of them are at increased risk for heart failure, liver problems, coma, and sudden death.
Using the FarGen Project to Bring More Healthcare to the Faroes
The overall goal of FarGen is to bring more medical services to the Faroes. The effort will bring home the health technology that Faroese residents now fly hours to get, Sigurd Vang, Director of the National Hospital in the Faroese capital Torshavn, told Bloomberg. “Our ambition is to do as much [healthcare] as we can at home,” he said. “We want to bring expertise here, and that expertise will breed more expertise.”
“The genome era is coming whether we like it or not,” stated Bogi Eliasen, Program Director for the FarGen project at the Ministry of Health. “Of course there is an interest in research. But my approach has always been, what can we use it for?”
Faroese Prime Minister Kaj Leo Holm Johannesen is an avid supporter of FarGen. He proposed a $2-million budget to help fund the project. Eliase estimates that the project will take about 10 years and cost up to $100 million. But if all goes as planned, the Faroes community could have its own DNA sequencer in operation by summer and begin using some residents’ genomes in medical decisions by yearend, noted the Bloomberg report.
Geneticists Worldwide Eye the FarGen Project
The project’s high profile has captured the attention of scientists worldwide as a model for use of human genomes. Consequently, Eliasen has gained collaboration and access to top geneticists. This includes James Watson, Ph.D., a co-discoverer of the structure the DNA molecule. Additionally, executives from Illumina Inc. (ILMN:US) the world’s largest maker of DNA sequencers, have visited the Faroes.
FarGen Stirs Controversy about Use of Genetic Information
The Faroese parliament passed a law that requires use of a secure database to store the genetic data collected on its citizens, which is only available for clinical use. But just the same, the project has ignited a firestorm of debate over issues of privacy, ownership and the value of making patients’ complete DNA available to medical practitioners.
Information contained in an individual’s genome poses new privacy challenges for scientists and doctors who want to access a patient’s genome. As well, studies suggest that a full DNA sequence alone might provide enough clues to enable determined sleuths to identify its owner, noted the Bloomberg report.
Large-scale DNA analysis projects planned worldwide face similar concerns. This includes a project by the U.S. Veteran’s Administration, which is gearing up to sequence the genomes of 1 million veterans. Another effort is the Personal Genome Project, a joint research study launched by Harvard and Toronto medical schools to sequence up to 100,000 volunteers.
Although Eliasen plans to limit residents’ access to their genomes, George Church, a Harvard Medical School geneticist who spearheaded the Personal Genome Project, told Bloomberg that once the Faroese system goes live, the Faroese people may ignore the law and demand access to their genetic information.
Genetic Screening Can Boost the Value of Medical Laboratory Testing
As DNA analysis of human genomes becomes faster and cheaper for both rare and common diseases, there will be controversy about how to store, access, and use genetic information. However, the practical use of genetic information in medical treatment and prevention in ways that improve patient outcomes will surely trump opposition and create ways to mitigate controversy over these concerns.
In the meantime, projects such a FarGen will proceed. These programs will create powerful changes in the diagnosis and treatment for a host of diseases. More knowledge about the human genome is expected to provide solutions for medical issues that have confounded the medical community for centuries. In turn, this will create new opportunities for pathologists and medical laboratories to provide diagnostic information that has significant clinical value.
—By Patricia Kirk