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New research brings personal genomics closer than ever

Personal genomics, the next major medical paradigm in which treatment and pharmaceuticals can be tailored to a person’s specific genome, requires cheap processes for mapping of individual genomes to be a success. Research recently published in the journal Nature shows how semiconductors can be used for the sequencing process, using Gordon Moore of Intel and Moore’s Law fame as their test subject. The research team, led by Jonathan Rothberg of Connecticut-based Ion Torrent, used their new semiconductor-based Personal Genome Machine to sequence Moore’s genome. The PGM is produced like a regular semiconductor chip, being created on a CMOS board with dozens of other chips before being cut out and set into an array, shown above.

From the study:

DNA sequencing and, more recently, massively parallel DNA sequencing has had a profound impact on research and medicine. The reductions in cost and time for generating DNA sequence have resulted in a range of new sequencing applications in cancer, human genetics, infectious diseases and the study of personal genomes, as well as in fields as diverse as ecology and the study of ancient DNA. Although de novo sequencing costs have dropped substantially, there is a desire to continue to drop the cost of sequencing at an exponential rate consistent with the semiconductor industry’s Moore’s Law as well as to provide lower cost, faster and more portable devices. This has been operationalized by the desire to reach the $1,000 genome.

While not yet to the $1,000 price point considered the holy grail of genome sequencing, the $49,500 Personal Genome Machine has made massive leaps forward in terms of cost and speed. In addition to sequencing Moore’s genome, the PGM was able to decode the genome of a bacterium in just two hours.

Rothberg’s device uses a different process for identifying individual nucleotides, which are the building blocks of DNA, than past sequencers and processes, such as those utilized by the Human Genome Project. While resolution and accuracy still isn’t as high as machines costing several hundred thousand dollars, the fact that the Personal Genome Machine is really just a series of computer chips means that it should adhere to Moore’s law. In other words, it will continue to more powerful and cheaper at a steady pace.