Save on genome sequencing
Sequencing the genome of healthy people has no diagnostic value
The results of this work were presented at the Annual Meeting of the American Association for Cancer Research (Association for Cancer Research), and also published in the journal Science Translational Medicine (The Predictive Capacity of Personal Genome Sequencing).
Full genome sequencing is the "cataloging" of all genes received by a person from both parents, and checking them for DNA damage that could increase a person's susceptibility to cancer and other diseases. Since the cost of genome sequencing is constantly decreasing (currently the price of the procedure is 1-3 thousand US dollars), many healthy people have begun to think about how to undergo such an examination and determine for themselves the risk of developing a particular disease. However, researchers from the Johns Hopkins Kimmel Cancer Research Center urge them to take their time.
The scientists' conclusions do not mean that genome sequencing has no medical value. "Firstly, genome sequencing remains the best tool for predicting "family" diseases, such as cancer and some others,– says Professor of oncology Bert Vogelstein (Bert Vogelstein). – Secondly, a detailed study of an individual's genome helps to better understand the mechanism of the disease already occurring in him and to more accurately select individual therapy for him. However, in the case of a healthy person, the genome ceases to be a reliable predictor."
The researchers tracked the development of 24 diseases in more than 50,000 twins from 5 countries who underwent genome sequencing. The results showed that in the case of 23 diseases, the genome analysis gave a negative result and attributed the risk of their development to the category of "low". However, according to Professor Vogelstein, this does not mean that this disease will not develop in this person. "It just means that his personal risk is slightly lower than the average risk in the population, which can be very significant," says the researcher. "Thus, even a negative result does not guarantee the absence of the disease in the future." At the same time, the risk of 4 out of 24 diseases – heart disease in men, autoimmune thyroiditis, type I diabetes and Alzheimer's disease – was consistently determined in 3/4 of cases, which allows us to call genome sequencing a fairly reliable means of determining predisposition to these diseases.
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04.04.2012