Currently, if you suspect the presence of certain mutations can be precisely explore any particular genes.For example, in breast cancer or ovarian cancer is often found a violation of the structure of the genes BRCA1 and BRCA2.However, these tests are focused on selected genes that represent only a small portion of the genome.Sequencing the whole genome to evaluate damage to the entire DNA that determines a person's exposure to one or another cancer or other diseases.
Experts call this study the most powerful diagnostic tool that helps identify the essence of the emergence of genetic mutations in certain diseases.
In the April issue of The Journal of the American Medical Association presents two clinical cases that confirm the value of the study of the entire human genome in different types of cancer.
patient fell ill with breast cancer in 37 years.At the age of 39 she developed ovarian cancer, which constantly recur despite treatment.As a result, 42 years later, the woman died a few days after revealing she had acute leukemia.Cases of cancer in the patient's family were out on the gene mutations BRCA1 and BRCA2 testing was negative.However, complete genome study revealed an unexpected genetic mutation that leads to the development of a rare disease called Li-Fraumeni syndrome.
As explained by a medical geneticist Dr. Boris Pasche of the University of Alabama (Birmingham, USA), with this genetic disorder, the risk of breast cancer and other cancers is 90% in the course of life.This is a ticking time bomb that can not be disabled.
study of the genome could not help the patient, but it was useful for her three young children, in whom the risk of developing hereditary cancers is 50%.
doctors could not decide whether the patient requires acute leukemia bone marrow transplantation.Average examination left this problem without an answer.According to the analysis, a chance to survive this woman after the bone marrow transplant was only 15%.However, the complete sequencing of the genome revealed the presence of specific genetic mutations that made blood cancer particularly susceptible to drug therapy.So the transplant was not needed, and the chances of survival are greatly increased.The patient was saved.
In both cases, the study of the whole genome has allowed physicians to get very useful information in just 6 weeks.In the near future, scientists plan to make the technique even quicker.
Now this research is quite expensive.However, just three years its value has decreased by 100 times.Experts believe that it will continue to decline.The cheaper the analysis, the more it can be used and the greater the number of patients it can help.And the range of diseases, to identify where the study will be useful for all expanding, and soon it will be used not only for the diagnosis of cancer.
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