Up at 5AM: The 5AM Solutions Blog

DNA Day 2012 is Here: Some Thoughts

Posted on Thu, Apr 19, 2012 @ 06:00 AM

DNA Day 2012April is a good month to step back and think a little bit about one of my favorite subjects: DNA. April 20th is National DNA Day. Organized by the National Human Genome Research Institute (NHGRI), the day commemorates the completion of the Human Genome Project in April 2003, and the discovery of DNA's double helix. I would like to share a few of my thoughts on this incredible and still mysterious molecule.

Clearly, the ability to decode the sequence of DNA cheaply is a big story in recent years. The Human Genome Project(s), one funded by governments and charitable trusts, and one funded by private investors, succeeded about 10 years ago in determining most of the sequence of the human genome. There has been some recent debate on whether the value of the sequence was over-hyped and whether it truly has been worth it to devote large amounts of money to high-throughput efforts such as the Human Genome Project.

In general, I do think that the money flowing into large-scale genetic studies have been worth it – but I can also see where critics are coming from. There was talk, some of it from scientists, and certainly a lot from the press, about how the genome would enable new cures for disease enable personalized medicine. No doubt there have been successes, such as a new treatment for underserved diseases like lupus, identification of genes associated with rare genetic disorders, and vastly increased knowledge of the genetic origins of cancer. On the other hand, genome wide association studies have not to date identified as many genetic factors as was hoped for by some, and some types of cancer have turned out to be frighteningly heterogeneous. In addition, early hopes for the discovery of many more genes that could be potential drug targets turned out to unfounded, with the number of genes being closer to 20,000 than the 100,000 originally, if naively, expected.

Today, a human genome can be decoded for thousands of dollars, and a $1,000 genome will soon be a reality. There’s no doubt that cheap sequencing technologies have led to huge variety of applications and development of tools for analyzing DNA sequenced. It’s hard to go to a conference without hearing somebody mention that sequencing costs are dropping faster than Moore’s Law, leading some to fear that our ability to generate sequence will outstrip our ability to store, analyze and manage it.

The advances in sequencing technology are truly amazing, with perhaps dozens of companies developing even more methods. But if you think about it, analysis of DNA, because of the structure of the molecule and how it encodes information, is relatively easy. Assessing the state of a DNA molecule by determining the sequence of nucleotides in it is conceptually and practically much easier than determining the state of a protein for instance, or an entire cell. This is part of what makes DNA so interesting – it is a biological construct that is also digital in a sense, and that resonates in our current high technology world. And technologies for decoding DNA are highly automatable, making it relatively easy to propose larger and larger studies.

So to end with a question – is it possible that the explosion of interest in DNA research is at least in part being driven by how relatively easy it is, both to do the basic research, and to scale it up, compared to other areas? This is not to say it shouldn’t be this way, but I do feel we should at least acknowledge that this is what is happening; if funders are happy with this and think this is best use of their money then I have no problem with it. But if there is a path-of-least-resistance thing going on, in which thornier problems get less attention because the solutions to them are more complicated and the paths to success less clear, then I worry we’ll never tackle some of those problems.

-Will FitzHugh, 5AM Solutions

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Tags: genomic data, DNA, DNA Day, genome, Human Genome Project, National Human Genome Research Institute, NHGRI

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