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How the Ion Proton Sequencer Works

        Tech | Other Gadgets

How Genome Sequencing Will Benefit You
Jeffery M. Vance, M.D., Ph.D, department chair of human genetics at the University of Miami, operates Illumina's HiSeq machine. The device completed whole exome sequencing to find the cause of a degenerative eye disease called retinitis pigmentosa.
Jeffery M. Vance, M.D., Ph.D, department chair of human genetics at the University of Miami, operates Illumina's HiSeq machine. The device completed whole exome sequencing to find the cause of a degenerative eye disease called retinitis pigmentosa.
Joe Raedle/Getty Images

Let's start by mentioning that it's difficult to overstate the importance of genome sequencing. We've already seen it unlock a new killer bacteria. So what else can it do? Well, since DNA is the source code for all life on our planet, having the ability to read those cryptic little strands of information will help researchers and doctors understand the very foundation of diseases.

Take for instance, cancer. All day long, cells are reproducing in our bodies, using that genetic information in their DNA. Cancer occurs when some of that information is incorrectly copied over, producing cells of a different sort. Being able to read those cells helps us understand, at a much deeper level, the types of cancer a patient might be dealing with and can identify genetic predisposition for cancer. It can also help doctors pinpoint weaknesses within different cancers to create new treatments.

Genome transcription can also be used to benefit otherwise healthy patients in a preventative manner. So many health problems have their roots in our genes. For instance, some families may have tendencies toward heart disease, diabetes or even alcoholism. Using specialized software that reads patterns in gene sequences, physicians could warn patients of their vulnerable areas.

That's not to say genome sequencing can predict that a given patient will have a heart attack or become an alcoholic, but it can warn that person if he or she is at greater risk. Then, they can make informed decisions to address that risk before it becomes a medical emergency. The same might be done for everything from Alzheimer's disease to bone density problems.

It stands to reason that, one day, most people could have a map of their personal genome saved somewhere within their electronic medical file. After all, health conditions will come and go, but DNA is a lifelong blueprint. As those health conditions arise, DNA can be checked to offer doctors a deeper understanding of their patients. That's why these sequencing tools will eventually start to migrate out of labs and into hospitals clinics.

That moment hasn't arrived yet. In fact, even though it's on the market, your doctor couldn't order a reading of your genome from the Proton or any of the other next-generation systems on the market as of July 2012. Keep reading and find out why.


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