14 November 2008

On the gene grounds

Alexander Berdichevsky, "Russian Newsweek"A few years ago, one of the employees of Newsweek passed a test for a genetic predisposition to diseases.

The results were disappointing, and he went to a cardiologist. "What are we complaining about?" the doctor asked. Having learned that the forecasts of geneticists, he looked at the correspondent the way Bulgakov's professor Kuzmin probably looked at the steward Sokov, frightened by Koroviev's predictions. "Now I have learned from reliable hands that I will die of liver cancer in February next year. I beg you to stop," the character of "The Master and Margarita" whined.

"Well, I don't know. Quit smoking, or something," the medic finally replied to the correspondent. The correspondent said goodbye in disappointment: he had just written a detailed article (see "Russian Newsweek" No. 15 for 2005) about medical genetic tests and hoped that the doctor would take action. And the doctor sighed with relief: the very idea of treating not diseases, but predispositions predicted by some geneticists, probably seemed to him heretical.

Three years have passed. Medical genetics has made a huge step towards the patient: genetic tests are based on a serious scientific basis. One of them, DNA analysis by 23andMe, which allows anyone to find out their genetic predispositions for $399, was even recognized by Time magazine as the "invention of the year" in October.

The problem is that the new industry has not overcome the main obstacle - the crisis of trust. Medical genetics is developing so rapidly that applied medicine simply cannot keep up with it: treating doctors and geneticists almost do not cooperate, and it is generally unclear whether society is ready for such revelations. How will people behave when they get the results in their hands? Will they take their health more seriously or just throw a piece of paper into the trash, convincing themselves that all this is not true?

The American firm Navigenics together with the Scripps Institute promise to answer these questions. In October, they began to study how the genetic diagnosis affects the behavior of patients. But the results will be available only in 2028. This research is part of an ambitious program for a new generation of geneticists. "Today, medical genetics plays an insignificant role: in the USA, for example, there are less than a thousand specialists, and this is very small. It is important to change the paradigm - science should benefit everyone, predict and prevent heart disease, diabetes and other common ailments," says Navigenics Chief Medical Officer Vance Vanier.

In 20 years, when the study is completed, medicine is likely to change beyond recognition. And perhaps another project that started in October will help her in this. It is called the "Personal Genome Project", its participants intend to create a first-of-its-kind database with medical and genetic information about 100,000 volunteers. The uniqueness of the database is that it is completely open. People are not used to telling the world about their illnesses: usually only attending doctors are privy to these secrets. The same applies to genetic data. But for scientists, this information is priceless. To attract volunteers, the organizers of the project themselves revealed their DNA and medical history to the world.

Open Access genes The main object of study in genetic tests is single nucleotide polymorphisms, or snips (from the English SNP - single nucleotide polymorphism).

Snips are differences between genes in a single nucleotide (a letter in the genetic alphabet) resulting from random mutations. It has been established that many snips affect a person's susceptibility to various diseases. In order to identify them, it is necessary to conduct large-scale statistical studies and compare the genomes of patients with their health status.

"It's like learning a language," says Esther Dyson, a member of 23andMe's board of directors. - I know some Russian words. I can ask for directions, but I can't read War and Peace." So do scientists: they know several correspondences between snips and diseases, but they cannot read the genome as a book about health. "The Personal Genome will be a huge unread book with a subscript translation," Dyson develops the metaphor. - Gradually comparing snips with diseases, we will learn to read better and better."

The project began with the personal example of Esther Dyson and nine other well-known scientists and public figures: their data has already appeared online. "Everyone asks me how I decided to take such a step," Dyson says. "And I must admit, I don't see anything special about him." The project participants want to change public opinion - to show that their data does not have to be kept secret.

According to Harvard University professor George Church, the head, as well as participant No. 1 of the "Personal Genome", at first people will be attracted just by the unusual nature of the event: everyone wants to feel like a hero. The professor says that there are already 7000 applications, and invites the Newsweek correspondent to join. It turns out, however, that preference is given to older participants. "They have more diseases," Church sighs dreamily, "and the children are already adults, also a source of data."

Both Church and Dyson approve of the Navigenics study and consider it necessary to find out how much patients are willing to change their lifestyle after genetic diagnosis. "I really didn't change it, but the test was still useful. At least I stopped being embarrassed: I didn't lean on big apple strudels with ice cream, unlike some," Dyson looks pointedly at the Newsweek correspondent's plate, "but I felt a little silly at the same time. And now I know that in my case it's really better not to eat them, and I'm calm." Either abstinence from strudels is so useful, or snips are favorable, but 57-year-old Dyson has become a stand-in for space tourist Charles Simoni and claims that 4g overloads are even pleasant.

Soreness test Perhaps Navigenics research will have another goal.

At least, that's what Stephen Murphy, president of Helix Health, believes, which helps patients interpret the results of genetic tests and receive the necessary treatment.

He says that patient surveys will help to understand whether the medical principle of "do no harm" is violated in this area. Murphy is a well-known skeptic, fiercely criticizing many companies, especially 23andMe. He admits that genetic tests are useful and necessary, but believes that businessmen position them incorrectly and thereby mislead patients.

"Only clinically valid tests make sense," he explains, "and not those that are thrown on the market as soon as one article has appeared indicating some correlation between the snip and the disease." Murphy recognizes as a valid test, for example, an analysis for a long-discovered BRCA1 mutation, with a very high probability of causing breast cancer. More than 30 studies and a large number of analyzed cases allow us to consider these data reliable. "And 23andMe relies on studies looking at less than 1,000 cases," Murphy is outraged. "The risk of a false result is very high." (Skeptics compare insufficiently tested tests with fortune-telling on a crystal ball, according to the results of which you can also consult a doctor.) Experts believe that the lack of prospective - that is, testing forecasts - studies does not allow talking about the benefits of genetic testing. It is necessary to conduct tests in some large group, make predictions, and in a few years to see how they will be justified. Such studies are already underway in relation to bronchial asthma, osteoporosis and congenital thrombophilia.

The 23andMe website describes in detail what studies these tests are based on, Dyson objects. It also indicates which are considered reliable (23 pieces), and which are not very (68 pieces). 23andMe, Navigenics and others emphasize that they do not provide medical services, but informational and educational ones. However, the line is too thin. According to Murphy, firms, officially stating one thing, actually make it clear that their recommendations have medical value, and this is almost criminal. In June, California authorities demanded that 13 companies, including 23andMe and Navigenics, stop offering genetic tests directly to consumers. By August, both firms still received the necessary licenses (23andMe had to hire a doctor for this) and ensured that their activities were recognized as legitimate.

"Our data is accurate," Dyson says, "inaccuracies may arise when interpreting them." Genetic testing does not give "yes" and "no" answers, only the probability of a particular disease is reported, and the accuracy of the assessment cannot be guaranteed: it depends on too many factors - both external and genetic. There may be a misunderstanding here, but, according to Dyson, you will not come to the right one without it. To the direct question whether tests can harm a particular person, she reluctantly answers: they can. Suddenly a person finds out that he is predisposed to a terrible disease, and decides to commit suicide. The reverse situation is also possible: the test will give deceptively good results.

But it is most likely that a person simply will not take his test seriously: "I got the results, but I haven't done anything yet, I haven't even read them properly," says the president of a large Russian IT holding company, who became a client of 23andMe. - There is no time, and there is difficult medical English, you can't understand anything." According to experts, there is no point in doing a genetic test without a doctor's appointment. About 50 people a month apply to his laboratory for tests, most of them on the advice of doctors. "There are still a few doctors who are being sent to us, dozens. But there are more and more of them," says a laboratory employee. "It's the same in the US," Dyson says. - There the story of your colleague's visit to the cardiologist could well be repeated. However, it must be admitted that the advice to quit smoking does not become less valuable from this."

Portal "Eternal youth" www.vechnayamolodost.ru14.11.2008

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