Walmart Offers Genome Sequencing? Not Yet...But Maybe Soon

Within the next few years it may be possible to go to Walmart, pick up a gallon of milk, and then stop by and have your genome sequenced while you wait. Sound unbelievable? Recent developments in the sequencing of your genome may make this a reality in the near future.

A company called Complete Genomics has recently announced that they intend to market the $5000 complete genome sequencing package. $5000 is not cheap, but it is definitely cheaper than some of the earlier efforts at genome sequencing.

The Human Genome Project cost 2.7 billion dollars, or roughly $1 per nucleotide in our genome. If the claims by Complete Genomics are correct, then the cost of having your 3 billion (+) nucleotides in your genome sequenced is be reduced to around $0.000016 each. And that opens the door for some pretty interesting developments....

First of all is the fact that the $5000 genome will ignite a form of biotech price war. When the first wide-screen plasma TVs hit the market, their average price was well over $5000. Many people wondered who would pay that much for a TV? But, very quickly, the price came down to the point where now you can get a wide-screen plasma for around $500. The same thing should happen with genome sequencing. Competition and technological advances will drive down the price, maybe even to less than $500. There is already financial incentive, the Archon X Prize in Genomics is offering $10 million to the first company to sequence 100 human genomes in less than 10 days. This is still a formidable task, but so was getting around the world in less than 80 days to Jules Verne.

The availability of inexpensive and rapid sequencing of individual genomes will be a huge asset to companies who need large databases for genomics work. Once these large databases become available, extensive association studies of the human genome become possible. These studies have the potential to reveal rare gene combinations that may be associated with some forms of diseases. This, in turn, has the potential to facilitate the development of new treatment options. As in any scientific experiment, the larger the database, the greater the chance of finding something rare and interesting. Right now, we are limited the availability of these large databases by cost...but it looks as if that may be changing.

Of course, there are real ethical questions that need to be addressed, mainly to do with the confidentiality of the genetics information and who ultimately owns the rights to your DNA. After all, the insurance companies would love to know about that rare allele you are hiding that will not only shorten your life (and time paying premiums) and cost them thousands in medical costs. We should be cautious of who has access to this information, but not so overly cautious as to delay development time of new technologies. In the long run, the availability of inexpensive genomic sequencing will advance medicine in ways that are currently only science fiction.




For more information on the work being done by Complete Genomics, see the article by Peter Aldhous "Genome Sequencing Falls to $5000"

The Reality of Race

What really makes us different? As the father of two young children, I am constantly amazed at how my children begin to distinguish themselves from others in their class. At a very young age, they barely recognized that not all people were the same, and what differences they did note were more of a curiosity to them than a type of distinction.

Now, however, as they exit middle school, they are well aware that some people are "different" from them. Sure, some of it is their social environment — we all know that middle schools are not the model of social integration. But as a scientist, I always have been intrigued by the apparent need to define ourselves as unique, even when it is clear from a scientific perspective that the majority of these differences are due to very minor variations in our genetic makeup.

Despite the ongoing "nature versus nurture" argument between the social scientists and geneticists, as scientists we always have suspected that our underlying differences would have to be controlled by genetics and the biochemical pathways that those genes regulate. While we now recognize that the environment does play a role in gene expression, and few of us believe that we are genetic automatons, barely a week goes by when we are not made aware of a new discovery on the genetic basis of a behavior or a disease. Genes control phenotypes. If race is such an important aspect of our society, as is clearly demonstrated by the latest political cycle, why has it taken us so long to really take a good look at the "phenotype" of race, and determine whether race is genetic?

Over the past several years there have been a number of articles that address the concept of race. One of my favorites is "Does Race Exist?" by Michael Bamshad and Steve Olson, from the Nov. 10, 2003, issue of Scientific American. I make this a required reading article for all of my science classes, from non-scientists to future geneticists.

The basic premise of this article is that the pigmentation level of an individual's skin is a poor criteria to use to identify them as belonging to a specific race, and that the use of these phenotypic races in medicine is bound to create problems.

The authors give an example of African Americans, who are typically identified as being of African descent. However, Africa is not home to a group of genetically identical individuals. Sub-Saharan Africans are genetically different from those from South Africa and the Mediterranean regions.

What is really important is how these populations of humans have historically adapted to selective forces including disease and the environment. Groups that have responded to similar selective forces are more correctly classified as a "race" than those with similar skin colors.

A recent NewScientist article, "Watson vs Venter: the loser is race-based medicine," brings two of biotech's big names to center stage on the discussion of race. James Watson and Craig Venter have made their genomes available publically. (For details see Venter and Watson.)

As Ewen Callaway reports in the article, an analysis of Watson's genome indicates that Watson, a phenotypic Caucasian, possesses a number of mutations that are found most commonly in populations from East Asia.

What this means is that Watson's doctor may prescribe him codeine or antidepressant drugs based upon his Caucasian phenotype, without realizing that at the metabolic level, Watson's cells are operating as if he is Asian.

The same thing is probably happening in each of us. Now that the two big boys, and their associated financial clout, are involved in the discussion, maybe we can really start to talk about what race means.

I, for one, am encouraged that these discussions are starting to gain momentum. At a time when humanity appears to be obsessed in establishing differences based upon race, sexual orientation, ethnicity and religious preference, it is promising to see that the scientific community is working to dispel these notions.

Research into the genetic basis of race needs to continue, not only for the development of new drugs, but to break down society's stereotypes of race. We need to recognize that while the person next to us may look different than we do, he or she may have more in common with us as an individual than a person of our perceived "race." I have a hard time seeing how anything negative can come from this realization.

This entry was originally published as "The Differences Within Us: The Latest Scientific Discussions on Race and Medicine" in the Sept 11, 2008 volume of Bioworld Perspectives. It is reprinted here by permission of AHC Media.