The medically relevant genome

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The ongoing battle for the $1000 genome may be coming to a close, but the larger question of what it all means for the average person remains. After years of boisterous claims about future DNA sequencing capabilities from companies like Ion Torrent and Pacific Biosciences, the genomics giant Illumina announced that with the release of its HiSeq X, the $1000 genome is now a reality (http://www.businessweek.com/articles/2014-01-14/illuminas-dna-supercomputer-ushers-in-the-1-000-human-genome). As a self proclaimed genomic junky, the idea of getting my hands on all of my genetic information for a mere 1k makes me a little giddy, but for the average person how is it really going to affect their daily life. Well in reality, with the state of genomic analyses, it probably will be years before your doctor opens your medical file and says, “John, I have the results from your genome analysis and I think it’s time to cut back on those simple carbohydrates and add more fiber to your diet. You have an increased risk of high triglycerides and colon cancer.”

Why you say? Well there is a lot more to understanding a person’s genome than just reading it. Imagine for a minute that you are a cook and a client gives you a cookbook and asks you to prepare a seven-course meal from it. You open the book to find that it is in a language you are only passingly familiar with and you have never heard of half of the ingredients. A cookbook is meaningless unless you can create something from it.

Additionally, translating our genomic ‘cookbook’ is only another step. If you want that book to be on everyone’s shelves, something they refer to often, than it has to be accessible and useful. That requires readily available data that doctors can access on what a particular genetic background means and what treatments will be the most useful, without having to do an extensive literature search for every single patient. This is the challenge facing genomics today.

In an era where scientific research is constantly fighting to maintain funding, the average person wants to see tangible results for their hard-earned dollar. If sequencing their genome cannot tell them how their genetic background will influence their health and what can be done about it, what difference does it make that they have access to it for $1000. Do not get me wrong, I emphasis that if the hype is true it is exciting news, and puts us another step closer to that elusive personalized medicine we await. However, there is a world of analysis, drug investigation, and doctoral education that stands between now and that reality. So thanks Illumina for giving us the next step in what the world needs to make our genome medically relevant. Now we need a company to release the $1000 genome analysis.

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