Analysis of genetic predisposition: it is possible, it is possible…
Do you want to know your DNA? Are you sure?
Evgeny Zolotov, ComputerraEvery breakthrough in science and technology not only opens up new perspectives, but also raises new moral questions.
Remember how the scientists who gave people the energy of the atom suffered! And how are the ideologists of the colonization of Mars suffering today? After all, it is technically possible to send a person there, but not yet to return healthy (or even alive). And this means that we will have to sacrifice something again (in the States they are seriously developing a new - lowered – "standard of health" for the conquerors of deep space).
However, for me personally, the most interesting among the topical issues of this kind remains the question that all of us will have to ask in ten or fifteen years. Do we have the right to give up knowledge of our DNA?
Imagine the situation. You come to the doctor for some nonsense reason - and, since you have bothered to look at him for once, the doctor, of course, prescribes the usual tests for you: blood, stool, genetic screening. Yes, progress is inexorable and by that time the procedure of reading all three billion "letters" of your genome will become a penny, fully automated, quite routine. The human genome will cease to be a mystery, it will turn into just a file on a "flash drive" attached to a medical card. And the doctor, habitually glancing at the results ("And your cholesterol, my dear, is high, you need to eat less meat... and sugar is not good ..."), suddenly will note a genetic predisposition to a dangerous disease. Well, let's say one of the forms of cancer or early dementia. Surprise!
You are middle-aged, you are blooming: career, family, active recreation. And then they draw you a plan for the rest of your life! No, the doctor does not promise the disease itself: it would be easier and easier to get sick (God forbid), at least you can fight the disease and see the result. But instead, you get a vague forecast "X percent more likely to cause a deadly sore Y, compared to the average Homo sapiens" plus a recommendation to regularly, to the grave, go to specific medical examinations (understandable, most likely unpleasant) or conduct preventive treatment. And this is not counting – now eternal – experiences: "already" or "not yet", "will it pass" or not? And spending money. And the likely side effects of treatment and anxiety.
Of course, the first question in such a situation is whether you will follow the advice of a doctor (statistics say that in countries with a higher standard of living, people are more inclined to listen to the opinion of doctors)? But if you think about it, the more important, primary question here is different: do you want to know at all about your genetic predisposition to something bad? Yes, it is assumed that a sane individual will always make a choice in favor of knowledge (information is never superfluous!). But we are not computing machines and we are not guided by logic alone. What if someone doesn't like the idea of hearing their "genetic verdict"?
How realistic is it to predict an individual's future diseases based on his genome? It is to anticipate, and not to state an existing condition (for example, less sensitivity to certain medications). Really, but with a big caveat. Somewhat simplifying, the situation is as follows: we do not yet know the meaning of all the genes in human DNA, much less their combinations (we have, presumably, 20 thousand genes; combinations, of course, are orders of magnitude more), and yet we have already identified thousands of characteristic genetic changes that determine predisposition to certain diseases (if there are specialists among the readers, I would be grateful for clarification / correction of this wording).
The most well–known of such mutations, of course, is represented by BRCA genes - damage to which significantly increases the risk of, in particular, malignant breast tumors. It was after learning about the presence of a BRCA defect that Angelina Jolie decided on the very operation.
The best evidence of how valuable information about "defective genes" is is the passions that have flared up around the possibility of patenting them. But even the average person can already afford to check for the presence of the main dangerous mutations. Traditional medical institutions are also doing this: in the USA, for example, doctors have already been officially recommended to check patients for a couple of dozen mutations that have been studied especially well and definitely increase the risks of certain diseases. But you can also contact private specialized companies. So, 23andMe (famous for being founded by Sergey Brin's ex-wife) offers a check for 240 properties, and its European competitor Gentle – already for 1700.
But what is the above-mentioned caveat? By itself, the presence of a mutated gene does not guarantee that the disease will develop. Genetic predisposition is rather just one of many factors, and also, for example, lifestyle, nationality and much more affect. That is, the result of genetic screening is not a verdict. So is it worth spoiling your life with the hassle of preventing a sore that may not manifest itself?
In the same States, this question has not been considered theoretical for a long time. So far, the official point of view is that screening is mandatory, but if you wish, you can ask the doctor not to disclose the results. The weakness is obvious: the information is still able to leak to the patient. New rules developed and adopted by the organization that unites American geneticists (ACMG) will help to avoid this: they grant the patient the right to refuse to check for dangerous mutations altogether. As far as we can understand, this is not yet a federal standard, but everything is coming to that.
Which, in turn, raises the following question: will doctors violate the key postulate of the Hippocratic oath by giving the patient the opportunity to refuse genetic screening? After all, by renouncing knowledge, an individual commits probabilistic suicide: he increases his risk of detecting the disease in a neglected form and dying from it. The parallel with the widely practiced refusal of mandatory resuscitation is somewhat reassuring: no one considers giving a person the opportunity to refuse a forced return to life as an aid in suicide! But does this put an end to the moral dispute? Hardly.
Portal "Eternal youth" http://vechnayamolodost.ru10.04.2014