On the personal genomics turning point

By Razib Khan | May 18, 2010 4:09 pm

From fantasy to fact? Personal Genomics, tipping points and a personal perspective:

But now I think we’ve turned a corner. It feels, to mix metaphors, that we’ve hit a tipping point. The Human genome project, the mapping and sequencing of the/a human genome from 1990 to 2003, cost approximately 2,700,000,000 dollars (that’s 2.7 billion, I wanted to get all the zeros in). Celera did the genome for 300,000,000. The cost of sequencing an entire human genome has been plummeting ever since. In 2007, the cost of sequencing the genome of James Watson (co-discoverer of DNA) was about 2,000,000. The today cost is about 10,000. Complete Genomics and other companies are on the march to quickly reducing the cost of sequencing a genome under 1,000.

So, within a year, the cost of sequencing your, my, genome will reach 1,000. If not less. We’ve seen this coming for years now, and it’s upon us. But what does it mean? A lot of data. But data means nothing without context and analysis. Sequencing my genome would be a waste of 1,000 dollars if I gleaned nothing from it.

I can believe that we’ll be able to get a tarball with our own full sequence for a reasonable price in a few years. Cheaper than orthodontia and cosmetic surgery even. Though the utility in prevention and treatment is a different matter. Most people already have a treasure trove of data through family history, and that doesn’t seem to change behavior for many in the short-term. Once the magical power of genomics wears off I suspect that knowing you have variant X with risk Y will be less transformative than not.

CATEGORIZED UNDER: Genetics, Genomics, Medicine
MORE ABOUT: Personal genomics

Comments (9)

  1. tgt

    I wonder. I think a lot of people cherry pick from their own family history — they ignore the grandparent who died of a heart attack in his 40s and focus on the hard-drinking uncle who’s going strong at 80.

    Also so many diet habits are formed while we are young and healthy and aren’t suffering any immediate harm from our poor decisions. Older sick relatives are often just ignored by the young and healthy.

    And if deli meats really turn out to be bad for you … I honestly doubt I could change my behavior. I eat deli meat every single day and have my entire life.

  2. New medical tests and technologies are almost always oversold to the public before their true utility is yanked back to some sense of reality. Genomic info, similarly, will no doubt be used in both good and ill ways, until a realization of just how limited (even primitive) it is becomes clear.

  3. I think I probably was a bit too optimistic in the ‘1 year to 1,000’ prediction ;-), but I have those optimistic moments when writing :). Though if I were a betting man, I’d bet that 1,000 it’ll be a 1,000 within 2-3 yrs, and maybe bet a donut that’ll it’ll be within a year.

    Obviously, as I mention in the post, there is a huge step from having the data to knowing what the… it actually all means. Media (and even we) sometimes oversell what it can offer, but it seems to me the science is quickly (if not quick enough) catching up to some of the hype.

    As to gleaning from family history, I’m not so sure. First, the obvious cases such as my daughter, who is adopted with little information about her birth family, there is a utter lack of family history. Having some data would be useful. But I suspect many, if not most people, have only a vague knowledge of their family’s health history, spotty, unclear (was that prostate cancer or liver cancer? :D) and often unknown. I agree with you though, most people already know what they need to do to mitigate disease… diet, exercise, cessation of smoking, reduce stress, and many do not. For those reasons (and that it’s not really anything new) I don’t think prevention is really a big deal though when it comes to personal genomics, I think early detection and personalized treatment are where there is going to be increasing impact.

  4. Just noticed I can edit comments (great feature), so ignore or delete this one :D, fixed the one above

  5. Adriana

    The cost of producing the sequence reads may go down to $1,000 soon (although I’m willing to bet not within one year), but that is misleading because the cost of analyzing the data for full genomes is still very high (in the range of tens of thousands of dollars) and it is still not clear that all the bioinformatics methods to analyze this information have been completely worked out. Not to mention that the error rate of the reads will need to improve. Then of course, comes the cost of storing the information. And even when all these problems are solved, we still need to figure out what all the information means, in terms of health risks, etc.

  6. How useful is genomics actually though? I’m working in personalized medicine research right now and you should hear how my bosses (PhD and MD researchers) go on and on about how useless genetic data to actually understanding risk factors.

    Personalized medicine should be about measuring mRNA expression levels and measuring other phenotype outputs. This focus on genetics is (probably) a dead end because, right off the bat, you’re ignoring environmental inputs.

    Also, the amount of data you need is orders of magnitude higher than for phenotype studies. My current project is a study of phenotyping the effect of immunsuppresion. I could do a thousand person correlative genetic study (and still come up with nothing) or a 50 person phenotype/ELISA study and get some definitive information.

  7. Saint Louis

    If it ever gets very cheap (like $50 or less), and if it’s useful enough, look for companies selling life and/or health insurance to start using it in their underwriting. I believe about half of states have already preemptively banned this practice even though no companies currently do it.

  8. Brian Too

    My guess is that this (personal genomes) will be viewed as a personal right, and therefore it’s unstoppable that this information will become widely available. And probably widely abused.

    I’d also guess that it will be widely ignored as a mechanism to change personal behaviour. After all, it’s already widely known that people should stop smoking, eat more vegetables and lose weight (if those are issues). Yet how many do? Usually it takes a crisis, or someone close to the person, or the conditional availability of something greatly wanted, to change said behaviour.


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This blog is about evolution, genetics, genomics and their interstices. Please beware that comments are aggressively moderated. Uncivil or churlish comments will likely get you banned immediately, so make any contribution count!

About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at http://www.razib.com


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