The $1,000 Genome

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    By Daniel Harris Senior, Biology Major

    Illumina (a scientific company specializing in DNA sequencing) recently announced that they have the ability to sequence an entire human genome for only 1000 dollars! This may seem like a substantial financial investment, however when you consider that the first human genome cost $3 billion to sequence, you can begin to see how substantial this announcement is. Now you might be thinking, “so what!” or “what does this mean to me?” Well, I hope to describe to you exactly what this means in this article.  To give a simple answer, it is now feasibly for healthcare providers to have your genome sequenced.  However what this information tells you requires a much more complex and detailed answer.

    To start with basic biology, the human genome contains roughly 30,000 regions that are called genes and these genes then code for the production of proteins.  Proteins are the molecules that make up almost everything that you are, as they range from hormones, that help you develop and perform many biological processes, to components in your hair.  Essentially, proteins make up everything that you see and mediate many of the processes you can’t see that allow you to survive.  However it is your genome where all of this information is stored and this is why being able to read you genome is so important.  By knowing what your body is capable of producing, it is possible to determine where abnormalities occur that could then lead to disease.  Therefore, the healthcare industry is beginning to place a serious investment in human genome research.

    One of these major medical research areas that is focusing on the genome, is cancer.  Cancer generally occurs from mutations in your genome that lead to your body reacting differently than it is supposed to.  There are many biological processes that focus on regulating cell growth, however when these start to fail, due to mutations, cancer is likely to occur.  It is possible to have these mutations occur randomly throughout one’s life; however it is also possible to be born with a defect.  If you are born with a defect, you could be warned before signs of cancer present themselves and could then monitor yourself closely.  This approach has been applied to many other diseases as well and could provide your physician with information that could aid your treatment.

    Since this is a relatively new medical technology, there is still much more to learn in order to widely apply genome sequencing to medicine.  However, in recent years scientists have made great strides and have begun compiling a wealth of information about our genome.  I strongly suggest you look up the “1000 Genomes Project”, which is a massive collaboration of scientist around the world to attempt to learn as much as they can about the human genome, for an example of what scientists are trying to do with our genome.  Due to efforts like the 1000 Genomes Project and the reduced cost to sequencing a genome, I believe that we will see genome sequencing become a major factor in healthcare and lead to massive medical breakthroughs in the near future.

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