21 April 2011

Genomics in the fight against cancer

Decoding the genome helped an American woman recover from cancer
Copper news 

The decoding of the genome helped American doctors to choose a therapy for a woman with cancer, reports Medpage Today (Whole-Genome Sequencing Reaches Clinic). A report on the work performed by a team of specialists led by Richard K. Wilson from Washington University in St. Louis, Missouri, is published in the Journal of the American Medical Association (JAMA): J.Welch et al., Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene.

Wilson's group examined a 39-year-old patient suffering from a malignant bone marrow disease. The woman's symptoms indicated acute promyelocytic leukemia. However, cytogenetic examination of cancer cells did not confirm this diagnosis.

The main point in clarifying the diagnosis was the choice of the treatment necessary for the patient. In particular, in acute promyelocytic leukemia, patients are prescribed a course of chemotherapy. Otherwise, the patient was shown a bone marrow stem cell transplant.

The researchers performed a complete decoding of the American woman's genome. They were able to detect mutations indicating the presence of promyelocytic leukemia in the patient. As a result, the woman was prescribed chemotherapy.

According to the authors of the study, due to the correct selection of therapy, the patient went into remission of the disease. 15 months after the treatment, the symptoms of the disease were not observed in the woman.

Another research group, in which Wilson also participated, decoded the genome of another patient with leukemia. As a result, a previously unknown mutation was detected in her, causing the development of the disease. The patient died three days after the diagnosis was clarified. The scientists recommended a genetic examination of her children to exclude the inheritance of this mutation.

According to Wilson, the two cases described indicate the diagnostic value of deciphering the hereditary information of patients. Currently, such a study costs from 20 to 40 thousand dollars. The scientist suggested that within two years the cost of genome decoding will be reduced by 90 percent and the technique will be massively introduced into clinical practice.

Portal "Eternal youth" http://vechnayamolodost.ru21.04.2011


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