Is the harm of "home" genetic tests exaggerated?
Genetics changes a person
Scientists have stood up for companies offering genetic tests,
justifying the absence of harm from themNadezhda Markina, "Newspaper.
Important decisions without full expertise are also made in the USA. Scientists have calculated that consumer genetic tests do much more good than harm, as they encourage people to go to the doctor and change their lifestyle rather than having surgery or swallowing pills. Therefore, the FDA's ban on the sale of individual genetic tests by 23andMe is a mistake, scientists say.
The FDA is clearly being overly cautious in its attitude towards manufacturers of individual genetic tests, according to Robert Green from Harvard Medical School and Nita Farahani from the Institute of Genomic Research at Duke University in Durham. In their opinion, the recent FDA crackdown on the company 23andMe, about which the newspaper wrote.Ru", were a mistake. The scientists presented their opinion in defense of consumer genomics in the journal Nature (Robert C Green & Nita A Farahany, Regulation: The FDA is overcautious on consumer genomics).
At the end of November last year, the American Food and Drug Administration (FDA) banned 23andMe from selling Personal Genome Service genetic tests, which cost $99 and assess the risk of various diseases. The reason for the ban was the lack of evidence of the reliability of the tests. The FDA is concerned that the test results may be misunderstood by customers and, for example, lead them to decide to have breast removal surgery.
According to the authors of the article in Nature, the FDA hastened to stop possible harm without bothering to find out if this harm actually exists. The authors of the article confirm their opinion with facts. For five years, scientists have been conducting research on people who used the service to obtain personal genomic data. They interviewed them about the psychological perception of their genetic information and what actions they took. In particular, whether they visited a doctor, whether they changed their lifestyle.
In 2009, the Scripps Genomic Health Initiative (SGHI) attracted more than 3,000 people who had undergone genetic testing. People were interviewed immediately before receiving the result, as well as 3 and 12 months after that. In more than two-thirds of the respondents, the researchers did not record any changes in the psychological state after receiving the results. In 2012-2013, the authors of the article tracked 1.8 thousand consumers of two personal genomics companies – Pathway Genomics and 23andMe. They also did not record changes in the level of fear or anxiety after people received the test results. Finally, more than 700 people who passed the Alzheimer's risk test were tracked. The test revealed an increased risk of the disease in about 40% of the subjects. However, even this fact did not lead to signs of severe stress, dangerous for health.
In 2010, researchers at Johns Hopkins University in Baltimore on a sample of 1,051 people found that more than a quarter of them, after receiving the results of a genetic test, immediately visited a doctor. More than half – 58% of people, having received the test results, did not take any action. 42% said they had changed their lifestyle to a healthier one.
Of these, 72% changed the nature of their diet; 61% of respondents began to lead a more active lifestyle; 38% began to use dietary supplements, and 17% consulted a doctor before that, the rest did without consultation; 13% began to take medications previously prescribed by their doctor; 17% started taking new medications, and 10% before that, they visited a doctor, and 7% neglected it (this last group is 2.94% of the entire sample). Obviously, in this case, many respondents gave several answers, so the percentages do not need to be added.
Of course, not all clients correctly interpreted the genetic results obtained. Experts at Johns Hopkins University found that from 5 to 9% of people understood them in exactly the opposite way, that is, they considered their risk of disease increased, while it was reduced and vice versa.
The FDA was particularly concerned about how customers perceive information about the presence of BRCA gene mutations that increase the risk of breast cancer. 23andMe specialists interviewed 136 people who had bad mutations. Of the 32 respondents, 14 men and 11 women learned for the first time during testing that they had a high-risk mutation. All the women went with their results to a consultation with a specialist doctor, and then all were retested for control. Their behavior, the authors note, did not differ from the behavior of those women who learned about their risk immediately from a specialist. Of course, this is a very small study, but it shows that women, having received an unfavorable result in a consumer genetic test, do not immediately rush to cut off their breasts, but go to a specialist and check the result already in the clinic.
In addition, the authors of the article note, users of genetic tests are obviously more educated and take better care of their health, therefore they are less prone to rash actions.
The authors acknowledge that 23andMe should be more transparent and more accurate. Monitoring and regulation of such companies is necessary. But banning consumer genomics can do more harm than harm from misinterpreting the results. Such consumer products, as well as mobile medical applications, democratize healthcare. They facilitate the active participation of the person himself in taking care of his own health, encourage him to make a conscious choice, change his lifestyle. Ultimately, they heal society."
Artur Isaev, director of the Human Stem Cell Institute and founder of the Russian network of medical and genetic consultations Genetico, is more cautious in his assessments.
"Medical information about the risk or presence of certain diseases should be interpreted by a geneticist, and seeing the patient and having the opportunity to examine him. We are not talking here at all about whether a person has the right to know his genome or not, as the defenders of 23andMe say, this is cunning. Now the 23andMe service leaves a person alone with the results of genetic testing. And the client can use the received information to his own detriment," Isaev argues. – Can you imagine that the laboratory would give out the results of the analysis, for example, on cancer markers, with an explanation of what they mean for the patient, and with some recommendations? Of course not, because the interpretation depends on whose tests they are, what is wrong with the patient, what the results of instrumental diagnostics say, and so on.
One of the basic principles of diagnosis in medicine is differential diagnosis, which is based on the gradual elimination of all possible diagnosis options until one remains. 23andMe clients who do not have a medical education cannot know about all the subtleties of the human body. There are monogenic hereditary diseases and some other features of genetics, when the probability of the disease is almost 100%. But there are few of them – no more than one percent. 90% of the information provided by 23andMe is probabilistic. We are talking about the so-called polymorphisms (SNP). And geneticists believe that in most cases there is nothing to tell the patient about them. Why does 23andMe give people such information? Because the very idea of showing the degree of risk of getting sick with something, covering everyone and making a community out of it is very exciting. A person is interested in this, he is so arranged – "he wants to know what will happen." But a sick and conditionally "healthy" client, having such information, can make the wrong decision without a doctor. Can the FDA prevent such cases? Sure. Therefore, it is correct to prohibit the service in terms of services for the interpretation of medical genetic information on the site for the general non-professional public.
Only specialists-doctors and geneticists - can interpret the risks of morbidity. To transfer to the patient the genetic information itself, what kind of DNA he has, which SNPs – no problem! Interpret non–medical information - no problem! Storing data is also no problem! I believe this is exactly what the FDA's decision will be in the near future."
Portal "Eternal youth" http://vechnayamolodost.ru16.01.2014