|Give and TakeEstonia's New Model for a National Gene Bank|
|By Lone Frank
October 6, 2000
At a time when DNA databases are sprouting up like mushrooms, Estonia wants to enter the competitive market for gene hunting in a unique way. It will be a matter of give and take in this tiny Baltic country. The state will ask donors for health information and DNA, but in return, and unlike any existing genetic database, Estonian citizens will be allowed to later access their own genetic profiles.
The Estonian gene bank and health database would be the world's largest. The aim is to include genetic profiles and information on individual health status and lifestyle from 75 percent of the 1.4 million citizens. Developed by a group of scientists of the Estonian Genome Foundation (EGF), the project was first presented to politicians and the public a year ago. Now there are three big steps ahead of them: getting legislation in place, running a pilot project, and finally building the gigantic gene bank. With enthusiasm in both government and opposition, Eiki Nestor, Minister of Social Affairs, expects a law governing the database and research on human genetics to be passed by the parliament before Christmas.
"Thinking ahead, our database could benefit individual donors directly," says Andres Metspalu, the head of molecular diagnostics at the University of Tartu, who originated the idea of a national gene bank. And what he is thinking of is the future's predictive and individualized medicine. As researchers identify still more genetic variations that cause disease or confer disease risk, a donor could readily request his or her status for a given genebe it related to heart disease, Alzheimer's or other conditionsand seek preventive care. The door also opens on effectively stratifying drug treatment on a nation-wide scale, as medicine tailored to individual genotypes becomes reality. Trustee of the Merck Genome Research Institute Thomas Caskey notes that "this could be a model for other countries to follow," and adds that the potential for an economic return for the health care system is substantial.
There is also the scientific return. The Estonian database could be an important tool for identifying disease genes by way of linking and mining its health data and DNA profiles, which would be coded for researchers. There is a particular focus on genes involved in common diseases such as cancer, diabetes, and heart disease and the Estonians may well deliver. Earlier, isolated and genetically homogeneous populationssuch as the Basque or the Icelanderswere touted as ideal for gene hunting but there is a growing consensus that heterogeneity may be an advantage in complex conditions involving many genes and environmental factors. Population size also matters, explains medical statistician Max Baur of the University of Bonn, Germany. "In many disease models a very large sample of people will be necessary to home in on genes that play a relatively weak role," he says. Baur also points out that it will be critical to compare study results across various populations.
"With the human genome fully mapped we need population data banks to understand gene function, and we must build an ethics standard for population studies," says Bartha Maria Knoppers, chairwoman of the Human Genome Project's Ethical, Legal & Social Issues Evaluation Committee. She considers the Estonian proposal for individual data access the more responsible approach but underlines the ethical requirement to educate the general public in understanding genetic information.
"We want to do this right and make sure the project doesn't run into problems later," says EGF chairman Jaanus Pikani who is involved in launching a massive educational program on genetics directed at the public. This leads up to a pilot project in which 10,000 volunteers are recruited by their physicians to answer extensive health questionnaires and give blood for later genotyping. With a positive outcome, Pikani predicts the major effort can begin within a year and one million people will be sampled over a five-year period. The health database will evolve as donors' medical information is entered continually. Genotyping will be done using tens of thousands of single nucleotide polymorphisms or SNP markers, which are single DNA base alterations narrowly spaced over the genome.
The potentially explosive idea of collecting and storing a nation's health data and genetic profiles have elicited little discussion in Estonia. "We should have more public debate about such an important development," says Pikani and he hopes to get things moving as the educational program rolls out TV specials and call-ins with live discussions. The most vocal critic of the database plan has been cancer specialist Tiina Tasmuth of the Estonian Christian Physicians' Society. She is outraged that significant government funds would go into high-tech approaches with long term aims when Estonia needs to improve the basic standard of its all-public health care system.
"We need to do both, and I believe this project will make it possible," answers Nestor, who explains that profits from marketing the database to companies can be funneled back into health care. The Estonian database will be the property of a non-profit foundation formed by EGF and the Ministry of Health who would create a body with rights to sell access and information. Metspalu and others in the academic establishment hope the database could also seriously boost Estonia's biomedical research and kick-start the budding biotech sector. Access to data will be given to local and outside public researchers freely or for a handling fee.
Just ten years after emerging as an independent nation after decades of Soviet rule, the Estonians cannot go it alone. They are looking for outside scientific collaboration and investments in the ballpark of $150 million mainly to cover the massive and expensive genotyping effort. To spread the word among scientists and investors the EGF held an international meeting in Tartu on September 21-22, where practical, legal and ethical questions involved were discussed. "It is important to be open about this and to make sure all the relevant questions are asked and answered," says Pikani.
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