DNA sequencing technology is at the core of the modern personalized medicine. DNA from various cancer cells of the patients can be sequenced very rapidly, efficiently and cost effectively. This in turn improves diagnosis and prognosis accuracy with a better outcome for the patient. By sequencing DNA of disease cells from the patients, one can identify specific defects in the genome sequence identify potential targets, and recommend an effective treatment modality reducing the un wanted side effects and reducing mortality.
The traditional Sanger method was widely used successfully for years with good results. An improved method was employed and was instrumental in successfully completing the human genome project. During the last few years as the advancement in bioinformatics, PCR Thermal Cyclers, microfluidics, and micro fabrication, steady progress has been made in the DNA sequencing technology. The new methods has also increased throughput driving down the cost. With the advent of new technologies, massive amount of DNA templates can be sequenced in parallel, some times on the same instrument at once (generally known as next generation sequencing). This is a major advancement for cancer diagnostics, and effective therapy.
The next generation sequencing technology, which are now on the third or fourth generation making the sequencing faster and affordable than ever before. This advancement is enabling global collaborations and partnerships such as Cancer Genome Atlas to identify and interpret sequence data from thousands of cancers. In the health care filed next generation sequencing technologies enables genetic screening for rare diseases and early detection. It can identify clinically relevant point mutations, access tumor progression, and can guide in recommending targeted therapies to match each person’s characteristics. This targeted approach is more effective produces less side effects and better prognosis. Along with the advancement with the hardware for the next generation sequencing, data analysis software and bioinformatics is also advancing. Original bioinformatics data based on standard reference sequences had to be modified to accommodate the much more complex sequences from thousands of cancer cells which show high level of heterogeneity. In this case a close collaboration between a doctors from the clinics and the bioinformatics professionals have to work together to identify the patterns associated with specific cancer or other genetic diseases. Latest developments in technology and bioinformatics are writing a new and promising chapter in the human health care and personalized medicine.