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Genetic testing will give patients the chance to prevent the disease

Six milliliter of blood and an informed consent. It is all that is needed to researchers at the biobank in Tartu, Estonia, to be able to read by your genes, and then provide you with tailored advice. So far, more than 70,000 Estonian citizens jumped on the governmental focus on tailor-made medicine.

– the Interest in genetic testing is great. But they are primarily available to the educated in many countries, because of the cost. It was important for the government that the entire population should receive as good care. With genetic testing, we can increase the precision and to put into prevention where it is needed, " says Lili Milani, head of tailor-made medicine at the Estonian genomcentret of the university of Tartu.

already samples from 52.000 ester. The samples began to be collected already in the year 2000. Scientists have used the material to include understanding genetic diseases.

There are certain diseases which are caused by a mutation in a single or a few genes. For example, it increases mutations in any of the genes BRCA1 and BRCA2 greatly the risk of breast cancer and ovarian cancer. The risk of a woman without any of the mutations that develop breast cancer sometime during their lifetime is 12%, with BRCA-mutations is approximately 80%. The mutations are hereditary, which means that women in families where breast cancer is common be tested for this mutation.

Photo: Renee Altrov

But all do not know if they are a carrier of this mutation. When the researchers went through about 5,000 of biobanksproverna in a pilot study, they found a number of people with BRCA mutations and gene variants that increase the risk for familial hypercholesterolemia, FH, a hereditary disease that causes a greatly increased risk of cardiovascular disease even at a young age. Then they were able to face a dilemma: should the carrying lethal mutations get to know it?

the researcher faroese mp kári he has struggled with the same problems. He has a database that makes it possible to identify all carriers of BRCA mutations on the Island. He has since 2013 been struggling to get contact them, but the law doesn't allow it.

The Estonian researchers solved the problem by searching for a new ethical permits, to contact those who had any of the genvarianterna for BRCA or FH. They were given information that they could receive their test results in a study. The who would not know therefore had to not do something and escaped being a forced result of the potentially deadly genes.

" It was nothing that we had found something. Only after they have given their consent to receive information, we took a new sample and validated the results. Then they got their test results and genetic counseling, " says Lili Milani.

the healthcare system failed to catch up most with BRCA mutations, although almost all had family members who had breast cancer. The health service had not set the correct diagnosis in those with FH.

" Only three out of 40 had received the correct diagnosis. Prior to the study had only 32 percent received the treatment, after the figure was 66 per cent. This shows how you can make use of genetic testing in order to avoid heart disease, " she says.

Now then, another 100,000 Estonian citizens get their genes tested and tailor-made advice. In this round, scientists will also look for the risk for more common diseases, such as cardiovascular disease and type 2 diabetes. For these common diseases, there are lots of genes that may influence the risk. A single gene gives a small increased risk, but several can have a higher risk. In this way, the researchers can calculate an individual risk score.

– One important issue has been how well we can calculate who may become ill. This type of risk estimation looks different in different populations. In Estonia, most of Estonian or Russian origin, which has made it easier. But in countries like the US or the Uk, where there are many ethnicities, it is a bigger problem to validate the results, " says Lili Milani.

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get information which can help doctors choose the right medicines. There are eleven known regions in the genome that very clearly contribute to how a person's turnover is a drug. The one who breaks down a drug faster or slower may need a different dose or another drug.

For that people should dare to participate in such projects is required, of course, great security. It is regulated by law that the information may not be used by the police or insurance companies. In addition, all dna samples, the researchers manage identified; instead, they are tagged with a numerical code. For safety reasons keep kryptonycklarna in a room without phones and internet access.

Integritetsfrågan has not led to any major debate in Estonia, however, the program has received criticism for the fact that the tests can create increased anxiety. There is namely a risk that the test reveals something unexpected, the genes for a serious disease. The Estonian project reconnects genes for diseases that can be treated or prevent in any way.

alone does not provide all the answers. For example, women with a BRCA mutation surgery to remove breasts and ovaries as a preventative measure. It is a drastic measure, but for certain life-saving. But all carriers of BRCA mutations will not get breast cancer. The one who has lost several family members in breast cancer may evaluate the risk differently than a person where no one in the family had breast cancer.

in Order to understand their test results, all participants in the Estonian programme in genetic counselling.

Photo: Renee Altrov

" Genetics is not a hundred percent deterministic. Just because you have a mutation or an increased risk of it does not mean that you will get the disease. In the same way does not save the genes that have a low genetic risk for e.g. type 2 diabetes, if the person is overweight or has other risk factors. Perhaps the information can motivate them to a better lifestyle, " says Lili Milani.

genomprojekt in Sweden, but it focuses on the diagnosis of individuals who already have symptoms due to hereditary diseases or cancer, and not on the entire population. Emma Tham, deputy chief physician and researcher in medical genetics at the Karolinska institute, thinks that the Estonian project is interesting, but wonder if it is the most effective way to prevent the disease among the general public.

– It is a great bet out of the forskningssynpunkt that we are going to teach us lots of. But it is difficult to get people to change their lifestyle. I don't know about it if it would give more for the public health with a genetic test than if we all offer a 50-year-olds a health check where blood pressure, weight, blood lipids and blood glucose checked and they get a motivational call about drinking less, smoking less and exercising more, " she says.

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