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Medicine gives us more and more opportunities to learn about what the future holds for us and our children. But with knowledge comes fears, anxieties, insecurities. A mistake can be costly. Is it worth it to decide on genetic testing and how to relate to the results?
Every year, geneticists find more and more connections between diseases and the genes with which their development is associated. Techno-optimists predict that one day we will finally be able to “repair” DNA, and then many hereditary incurable diseases will become a thing of the past. And, say, cancer, Alzheimer’s disease and heart disease will become much easier to identify and treat. And all this will be available to almost everyone at the price of a vacation in Turkey.
But if we ignore the bright prospects and proceed only from what medicine offers today, there are still more questions than answers. We do not yet fully understand how genetics affects the development of certain diseases. This means that we cannot predict them with 100% accuracy.
“There are two types of genetic diseases,” says Dr Mary Portius, a clinical geneticist at the University of Edinburgh. “There are rare syndromes, such as Huntington’s disease, that are caused by a defective gene. If this gene has been passed on to you, it means that sooner or later the disease will make itself felt. In this case, the test will really tell you what might happen in the future.”
The unknown breeds anxiety. But knowledge does not necessarily lead to liberation.
With the risks of frequent diseases, everything is more complicated. The purpose of the test is to identify risk areas so that a person can change their lifestyle in order to reduce the risk of the disease. “The data that at the age of 56 you will develop coronary heart disease, no one will give you,” she continues. – To assess the risks, we use large statistical studies that compare the genomes of sick and healthy people. When we study the genome of an individual, we can tell how much more similar in DNA they are to people from a group of sick people or from a group of healthy people.
“But in the case of breast cancer or heart disease, genes are only one side of the story,” she continues. “We have only found some of the genes associated with these diseases. But diet, physical activity, smoking and stress also play a role.”
Maria, 28 years old
“My mother died at 48 from breast cancer. And her mom too. The doctors advised me to take a test to find out my risks. But I didn’t do it. To be honest, I don’t understand what the point is. If they find the same thing that Jolie has, I just won’t be able to sleep peacefully. And I’m still not sure she’s right. And I … I already know about my risks and I try to take all precautions. I eat right, don’t smoke, exercise regularly. I do not want to live these years in constant anxiety. Though my mother’s life was short, she was happy.”
Assess your strengths
Today, one of the most common genetic tests is to detect mutations in the BRCA 1 and 2 genes. It was she who was found in Angelina Jolie. The decision of the actress to remove her breasts and ovaries even before the onset of signs of cancer was met by many with bewilderment and rejection. However, she had good reasons: her mother and aunt Jolie died of cancer, and doctors estimated her own risks at 87%.
On the one hand, this story has become an example for many: for example, the daughter of rock musician Ozzy Osbourne, Kelly, announced that she was going to follow the example of Jolie, since she had the same mutation. On the other hand, some women, on the contrary, refuse to do the test precisely because they are afraid to repeat the fate of the actress.
The unknown breeds anxiety. But knowledge does not necessarily lead to liberation. Psychologists at Boston University studied the response of patients who were told they were very likely to develop Alzheimer’s disease. Scientists were interested in how the news about the genetic risk of the disease will affect the psychological state of the participants.
It turned out that most of the stress level remained the same as it was. But for those participants who suffered from high anxiety and were prone to depression, the news caused a worsening.
According to Portius, if you do not feel strong in yourself, you should not rush into a decision. “The news that you are at risk can come as a shock,” she emphasizes. But in time you will get over it. Try to remember the worst thing that happened to you in your life and how you dealt with it. What challenges did you face? How did they overcome them? What experience did you get? Can you apply this experience to the test situation?”
accept the inevitable
But not every disease can be prevented. For some incurable diseases, such as Huntington’s syndrome or progressive muscular atrophy, knowledge is not salvation. A positive result can be obtained several years before the onset of symptoms, but in this case, you can only prepare yourself for what will happen sooner or later.
On the one hand, it is hard to look into the future and realize that you cannot change anything. On the other hand, for some it may be a chance to rethink life and not put off the most important things for later. Perhaps this is a chance to finally arrange life the way you would like – to quit an unloved job, to go on a journey that you have long dreamed of. Get kids.
“I once counseled a woman who was married to an unloved man,” says Portius. “When her test came back positive, it gave her an inner impulse to end the relationship. She said that the test was the very shake-up that she needed in order to finally decide on a change.
Rimma, 37 years old
“One of my children has Martin-Bell syndrome. This is a hereditary disease that bypassed me and my daughter, but affected my son. I found out about it after he was born. The geneticist said that the chances were 50 to 50. Now my boy has to go to a correctional school, he does not speak well, he has difficulty studying. We would never have chosen such a life for ourselves. There are days when we ask ourselves: what will it be like for him when we are not around. But there were also positive moments. We have been able to help others by donating money and sharing our experiences. We found support ourselves and now we regularly meet with specialists and other parents, trying to draw attention to this problem.”
think of others
How will the test result affect your family and partner? After all, if you have found a defective gene, there is a chance that your children will inherit it.
“If you think you’re at risk, the smartest thing to do is talk to your loved ones,” says Caitlin Palframan, consultant at Breast Cancer Now. – According to my observations, those who come to take the test with family, partners and friends tolerate the results better. Feel free to seek support, contact those who have already experienced something similar. People will be happy to share their experiences and become your guides on this difficult path.”
To know or not to know is a purely personal question. It is impossible to develop an algorithm to answer this question, because we do not know what the real price of this information is. Will the forecast come true? What do we do with the results? Do you believe them? What to do with your life in general? Nobody can answer these questions for us.
In life, we often have to deal with uncertainty and think in terms of the possible. What happens if we go to this university and not to that one? How would our lives have turned out if we accepted the invitation to leave for an internship and stayed abroad?
Sometimes we make a choice blindly, but more often we try to make an informed decision. Medicine gives us a chance to learn something about ourselves that we would not know otherwise. But she can’t make the decision for us.