The risk of genetic testing
A major study has revealed a massive inaccuracy of genetic analyses
Asya Gorina, Vesti
The results of a large public-private project of American scientists have shown that modern methods of genetic testing have significant drawbacks and may not always give correct results. Doctors, in turn, after familiarizing themselves with the genetic data of the patient, can make an incorrect diagnosis based on how great the genetically determined risk of developing certain diseases is.
In this regard, scientists ask patients to be more skeptical about the results of their own genetic tests and not to make important medical decisions in accordance with them – for example, to refuse surgery or, on the contrary, to undergo preventive mastectomy, as Hollywood actress Angelina Jolie did.
"If, nevertheless, the patient has decided to undergo genetic testing, then he should choose the medical company that puts the results of its research into open access. The constant exchange of scientific data in this area makes it possible to improve the accuracy of testing," explains the study's lead author Heidi Rehm from the Women's Hospital in Boston (in a press release from Brigham and Women's Hospital A New Era for Genetic Interpretation – VM).
Scientists say that not all gene mutations or variations are the same in their effects on the body. Some of them significantly increase the risk of developing various diseases – for example, breast cancer, while others do it completely insignificantly. There are also such gene variations that do not affect the risk of this kind at all.
Unfortunately, modern methods of genetic testing do not allow us to determine what kind of mutation or variation a patient has, that is, it is unclear how much it increases the risk of developing diseases and whether it increases at all. Moreover, most gene variations are very rare, which makes the task even more difficult for scientists.
The scientists presented the results of the latest study in their report, which they presented at a conference in Washington (The 11th Annual Personalized Medicine Conference). The data can also be found in the article of the New England Journal of Medicine (Rehm et al., ClinGen – The Clinical Genome Resource).
At the moment, researchers have identified 172 thousand variations of 23 thousand genes. This is only a small part of the total number of gene variations known to science, but many of the mutations already studied are quite common. More than 118 thousand of them have an impact on the risk of developing diseases and 11% of the variations from this number have been analyzed in different laboratories. This means that the research results can be compared and the truth can be found.
It is important to note that in most cases, researchers can interpret the same results in different ways, that is, attribute the gene variation to an increased risk of developing the disease or mark it as safe. For this reason, it is important to have a database that will display only facts without subjective interpretations.
Before the most accurate genetic test is compiled, it will be necessary to analyze the genomes of millions of people and compare these data, experts say. However, for this, it is important that each result of genetic testing be made publicly available and examined in detail.
Portal "Eternal youth" http://vechnayamolodost.ru29.05.2015