The advent of personalized medicine is moving us from a traditional “one-size-fits-all” approach, based on broad population averages, to a more precise health care that is customized for each individual patient. The sequencing of the human genome has initiated a genomic era of personalized medicine. Knowledge of patients genomic, gained through high through-put next generation sequencing (NGS) is offering opportunities for biological insights and clinical diagnostics. Advances in this field have led to powerful new discoveries and treatments that are designed for specific characteristics of each individual. The main goal in personalized medicine is to use patient’s genetic information to provide more accurate diagnoses, safer drug prescriptions
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Tumor cells undergoing apoptosis and necrosis release fragments of their DNA into the bloodstream called ct DNA 2. Since acquiring DNA through a biopsy is very invasive, expensive and sometimes not feasible, screening ct DNA extracted from the blood for somatic mutations is an easy and cheap method to detect and follow the progression of a patient's tumor. For this study, recurrent cancer patients that had failed standard therapy and biopsies from the metastatic sites and their plasma blood was available at Institut Curie were selected. Mutations were identified by conducting Ion Torrent coupled to Ampliseq chemistry sequencing technique. NGS identified 29 mutations in solid biopsies, 28 (97%) of which were also detected from plasma samples. Biopsies and plasma samples each had 1 individual mutation. An average of 25% of total cell-free DNA was ct DNA. These results indicate that ct DNA obtained from blood sampling is a promising alternative to metastasis biopsies, eliminating physical sampling bias and identifies heterogeneity within the tumor. Moreover, in approximately 20% of patients biopsy is unavailable or cellularity from biopsies are low and cannot be assessed with NGS. This study suggests that ct DNA sequencing can be a reliable alternative to characterize tumors whenever biopsies are unavailable.
Although NGS is widely used for identifying genetic disorders and for cancer diagnosis the usefulness of this technique for personalized medicine is still in early stages. We still need to elucidate whether NGS can be used to interrogate the genome outside the research laboratories and for patients. Moreover, there is a lack of knowledge on the liability of NGS
Tumor cells undergoing apoptosis and necrosis release fragments of their DNA into the bloodstream called ct DNA 2. Since acquiring DNA through a biopsy is very invasive, expensive and sometimes not feasible, screening ct DNA extracted from the blood for somatic mutations is an easy and cheap method to detect and follow the progression of a patient's tumor. For this study, recurrent cancer patients that had failed standard therapy and biopsies from the metastatic sites and their plasma blood was available at Institut Curie were selected. Mutations were identified by conducting Ion Torrent coupled to Ampliseq chemistry sequencing technique. NGS identified 29 mutations in solid biopsies, 28 (97%) of which were also detected from plasma samples. Biopsies and plasma samples each had 1 individual mutation. An average of 25% of total cell-free DNA was ct DNA. These results indicate that ct DNA obtained from blood sampling is a promising alternative to metastasis biopsies, eliminating physical sampling bias and identifies heterogeneity within the tumor. Moreover, in approximately 20% of patients biopsy is unavailable or cellularity from biopsies are low and cannot be assessed with NGS. This study suggests that ct DNA sequencing can be a reliable alternative to characterize tumors whenever biopsies are unavailable.
Although NGS is widely used for identifying genetic disorders and for cancer diagnosis the usefulness of this technique for personalized medicine is still in early stages. We still need to elucidate whether NGS can be used to interrogate the genome outside the research laboratories and for patients. Moreover, there is a lack of knowledge on the liability of NGS