Icelandic Genetic Database

SIGNIFICANCE: Iceland became the first country to license the rights of an entire population’s genetic code to a private company. The potential scientific and health care benefits of the Icelandic genetic database are considered significant. However, its creation has led to a debate concerning genetic research and its role in public health.

Why Iceland?

The people of Iceland have always displayed an intense interest in documenting their genealogical and medical histories. The complete family histories for more than 75 percent of all Icelanders who have ever lived are known. Although standardized recording of extensive and precise medical records became law in 1915, additional records date to the 1600s. These extensive written records of the Icelandic people are of high quality and unique in the world today.

History of the Database

In the mid-1970s, the Icelandic parliament considered collecting these records into a computer database. The idea was abandoned because of a lack of funding, concern over privacy, and inadequate technology. While working on identifying the gene for multiple sclerosis in 1994, Icelandic physician and scientist Dr. Kári Stefánsson realized that Iceland’s genealogical and medical records would greatly aid in the search for genes involved in complex but common diseases such as heart disease and diabetes. He also believed that since all Icelanders can trace their genetic roots to the same few founders, their genetic backgrounds would be very similar, making it easier and faster to identify the mutations causing diseases than for other populations. He determined it was financially and technologically feasible to build a computer database integrating genealogical, medical, and genetic profiles for the first time. However, the genetic profiles of the Icelandic population had yet to be determined. Because Iceland has a nationalized health care system, permission of the Icelandic parliament was required.

With private financial backing, Stefánsson established the company deCODE Genetics in 1996 (the company was bought by Amgen in 2012). Two years later, Iceland’s parliament enacted the Act on a Health Sector Database for an Icelandic genetic database, awarding a twelve-year license exclusively to deCODE. The database immediately became the subject of intense ethical and medical debates. While this controversy continued, deCODE Genetics computerized the Icelandic genealogical records, created the genetic profiles of eight thousand Icelandic volunteers, and uploaded their genetic, medical, and genealogical records.

Court cases, such as one in 2004 supporting an Icelandic woman’s right to withhold her deceased father’s genetic information, have established the ability for Icelandic adults to “opt out” of inclusion in the database. As of the 2020s, deCODE's Icelandic genetic database included more than 160,000 volunteer participants, representing well over half the adult population of Iceland. While the Icelandic genetic database was the first of its kind, genetic databases are being established by health care systems across the world, including in the United Kingdom and the United States. In total, the database contained more than 900,000 records, some dating back to the eighth century CE.

Current Uses of the Database

From the beginning, two different but interrelated objectives for the database were defined: discovering the genes involved in complex diseases and finding new drugs through pharmacogenomics to combat those same diseases once their genes were identified.

Since 2003, deCODE Genetics has conducted linkage and association studies in the Icelandic population. Such studies have identified novel loci for a variety of diseases, including the transcription factor 7-like 2 (TCF7L2) gene in type 2 diabetes, a common variant on chromosome 9p21 in myocardial infarction, and variants on chromosomes Xp11.22 and 2p15 in prostate cancer. Genetic variants associated with differences in hair, eye, and skin pigmentation and height have also been identified using the Icelandic population. Scientists at deCODE Genetics have also identified genetic variants underlying interindividual variation in gene expression patterns and DNA recombination rates.

DeCODE Genetics has applied the information gained from genetic studies to clinical tools in several ways. From 2007 to 2013, the company offered several genetic tests to assess an individual’s risk for various diseases, based on the company’s research findings. DeCode also developed tests for breast and prostate cancers. DeCODE Genetics is also involved in integrating information from genetic studies into drug development.

Potential Uses

Because the database will ostensibly contain the information on the entire Icelandic people, it is also considered a population genetic database. Its data could be used not only to determine an individual’s predisposition to a particular disease but also to predict diseases within the entire population of Iceland before they actually occur. This form of medical intervention could be used to plan public health policies for groups of people. Predicting diseases is a significant departure from current public health practice, which develops treatment regimens only after a disease appears, not before. What began as a single country’s genetic database has now grown into the recognition of the potential role of genetics in worldwide public health policy and planning.

Ethical Concerns

The Act on a Health Sector Database is silent on what data were to be used, how they would be used, informed consent issues, and the right to privacy. Heavily encrypting all the information in the database, removing all personal information that could identify patients individually, and security testing the database were the result of these privacy concerns.

Informed consent issues have created the most serious problems. The act presumes informed consent unless an individual “opts out,” which many feel violates the intent of consent. Icelandic physicians filed a lawsuit to clarify this issue, since Icelandic law requires that physicians guarantee full informed consent.

A second major concern is the licensing of Iceland’s complete genetic profile to a company. Because Iceland has a nationalized health plan, medical records have always been considered a national resource. Many feel that Icelandic genetic records are also a national resource and should remain with the people. Related to this issue is concern that granting the rights to only a single company will prevent scientific research both in Iceland and elsewhere on any genes deCODE may identify. Eventually, Icelandic courts ruled that the company could not use a person's health record without consent.

Although controversial, the database continues to provide guidance and lessons for other nations in developing new genetic databases. Ethical, medical, and social issues first raised in Iceland have quickly become issues worldwide as population genetic databases proliferate. This, in turn, has resulted in an active debate on the role of genetic information in worldwide public health and whether such databases should be permitted to operate in all countries, if at all.

Key terms

• genetic databasea set of computerized records of individuals that contain their genetic information and medical histories
• genetic profilea description of a person’s genes, including any variations within them
• informed consentthe right for a potential research subject to be adequately informed of the aims, methods, sources of funding, conflicts of interest, anticipated benefits, potential risks, and discomforts involved in a procedure or trial, and the ability to withdraw consent, which should be in a written, signed document
• pharmacogenomicsthe study of how variations in the human genome affect responses to medications; can be used to find the most suitable patients for drug therapy trials or to match people with similar genetic profiles to the drugs most likely to work for them
• population databasea database containing information on the individuals in a population, which can be defined by a variety of criteria, such as location (a state or country) or ethnicity

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