by Kari Stefansson
(adapted from Drug Discovery Today, 1998, Vol. 3, No. 8, pp. 355-357)

(Posted October 16, 1998 · Issue 40)

Should biological materials be collected for genetic studies of indigenous populations? Such groups sometimes justifiably object to the process. Scientists from the outside can arrive unannounced, extract blood from members of the population with vague promises of benefits, and then disappear, never to be seen again by donors.

deCode Genetics, Inc., the first Icelandic biotech company and one founded by Icelanders for Icelanders, does not operate in this manner. I founded the firm in 1996, leaving my faculty position at Harvard University and returning to my homeland. We plan to be here a hundred years from now, exploring the advantages inherent in the genome of the Icelandic people for studying human genetics.

If we succeed as a company in Iceland, it can be argued that the primary beneficiary will be the population, because of the way in which deCode generates value and employment. As the world shrinks, it has become easier for well-educated Icelanders to get jobs abroad. We are reversing this substantial brain drain by bringing back large numbers of highly educated Icelanders, and highly educated foreigners as well. Indigenous people who criticize genomic studies should start their own companies. It prevents outside scientists from exploiting genetic heritage, and provides a nexus to promote the education and development of one's own people. Extracting value from one's own genome and providing meaningful employment is the antithesis of exploitation.

During my days as a researcher in academe studying the genetics of multiple sclerosis, I concluded that the scarce item in human genetics is not technology but the availability of a sample population with a sufficiently homogeneous genetic background to identify genetic variations. Iceland's highly homogenous population, along with the vast amount of accumulated information on the genealogy of its citizens and the high quality of the country's medical care - a national health-care system since 1915 with universal access and very good record-keeping - makes it a unique resource for such an endeavor. I also recognized that if I did not move forward to explore the genetic advantage possessed by my native population, other researchers who were not necessarily attuned to the best interests of the Icelandic people were poised to step in and do so.

Genealogy was important to the earliest Icelandic settlers some 1,100 years ago. During that early period Iceland was a true democracy. If someone stole your sheep or peed in your water supply, which were serious crimes punishable by death, you had to carry out the sentence. To do so, you called upon your blood relatives, so it was important to know to whom you were related. Your genealogy had a direct relationship to social justice.

Iceland became Christian in the year 1000 and genealogy continued to be important. Part of the official responsibility of the ministry was to record births, deaths, and marriages. Today there is a professorship in genealogy at the university, there are many genealogy societies, every year several books of genealogy are published that sell in large numbers, and a daily newspaper has a daily one- or two-page column on genealogy. As a consequence, the genealogy of the entire nation is well-preserved. We had access to these records when we founded the company.

The unique genetic homogeneity of the Icelandic people is due to the physical isolation of the country and to several population bottlenecks that occurred as a result of natural disasters. The first disaster was the bubonic plague, which devastated the population in the 1400s, reducing it by 60%. The second was the volcanic eruption in the 1700s that covered the entire country with ash and again reduced the population, by 50%. As a result, the Icelandic population of today is descended from a relatively small pool of ancestors, and that helps us in our work.

Let's say, for example, that there were five original founders who brought a particular disease into the population, all of whom had descendants. Due to the weeding-out effect of catastrophes, we may, today, have only the descendants of one of the founders in the population, which decreases the complexity of identifying the gene responsible for the disease. There seems to be some degree of poetic justice in all of this: the very disasters that caused untold misery and decimation of the population in the past are what have today made Iceland into a unique place for genetic studies.

Icelanders have a very strong sense of community and are highly educated. As a result we receive 99% participation in our studies. We also have in one location all the tissue blocks from all biopsies and autopsies performed in Iceland since World War II. With these resources, it was clear that the Icelandic population is a matchless opportunity to do good genetics.

Currently we are working on some 25 diseases, including hypertension, cardiovascular disease, Alzheimer's disease, anxiety - most of the common diseases. We have already made important discoveries in the multiple sclerosis, psoriasis, and schizophrenia areas, and collaborating Icelandic physicians have collected lots of blood from patients with these diseases. We are clearly advanced in the clinical research despite our being less than two years old.

All of our studies are done in collaboration with community physicians. It is extraordinarily important that the company never approach a patient directly because of protection of privacy. All of the information that goes into deCode is labeled with an encrypted identification number, and our genealogy database is labeled with the same code. So when we get the sample and the disease information, the code does not prevent us from determining who is related to whom and how. This system is the best in the world for protecting privacy.

Once we decide to work on a particular disease, we contact a group of physicians who are taking care of such patients. Together, deCode and the physician apply to the Data Protection Commission, a government body, and an ethics committee. We send them a protocol for the study. They must approve it, and also make sure we protect privacy and abide by the protocol. The physician sends us an encrypted listing of patients. Our statistician looks at the family trees in our genealogy database and indicates which families we need. The physician then sends these patients a letter inviting them to participate. He explains the study to them and, if they agree, has them sign an informed-consent form. Once all of this is in place, the physician draws blood from the patient and sends it to us with the encrypted code as the only identifier, and we begin the search for the gene associated with the particular disease that afflicts the patient.

Molecular biology is much more than a collection of molecular tricks, as it has been traditionally viewed. We must understand it for what it is: bioinformatics. It's the sum total of all the information encoded in the nucleotides of DNA that in most cases has remained constant from generation to generation. However, buried in this information are variations that provide clues to our heritage and identity as well as an understanding of almost all of the human diseases.

Special creationists say, "In the beginning was the word." They forget to mention that the word is written in the nucleotides of DNA. Now, at the end of the twentieth century, mankind is at last beginning to read those ancient words. There will be much for us to wonder about and learn as the poetry of our collective genomes finally begins to emerge.

Laufey Tryggvadottir, secretary of Mannvernd (Association of Icelanders for Ethical Genetics and Science), responded in a Letter to the Editor to HMS Beagle.

Send us your comments and ideas for future articles.

Endlinks

Genomics: A Global Resource - a comprehensive site by the Pharmaceutical Research and Manufacturers of America, and the American Institute of Biological Sciences. It includes a genomics lexicon; the latest news from genomics companies; information on laws, regulations, and ethics of genomics research and applications; and extensive links to other genomics-related Web sites.

Genomics - online version of the journal. Includes abstracts or full-text of articles from current and past issues. Numerous links to other genomics sites.

Human Gene Mutation Database - a collation of all the published gene lesions responsible for human genetic diseases. From the Institute of Medical Genetics in Cardiff, United Kingdom.

Human Genome Project Information - contains up-to-date information on the Human Genome Project, the effort to identify and sequence the entire human genome, as well as information and links to worldwide genome research. Maintained by the U.S. Department of Energy

Human Genome Diversity Project - a proposed project to collect DNA from many of the world's indigenous populations. Links to a summary of the project, frequently asked questions, and a model ethical protocol for collecting DNA under the HGDP.

Who Owns Your Genes? - a contrary view of human genomics research and patenting of genetic material. From the Rural Advancement Foundation International.