Showing posts with label Human Genome Project. Show all posts
Showing posts with label Human Genome Project. Show all posts

Wednesday, February 11, 2009

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"

Saturday, October 25, 2008

Fruit Flies Enter the Political Battle

The political fray has entered into the world of genetics, and as usual, our politicians have no real idea what they are talking about. In an October 24th speech about children with special needs, Sarah Palin, the Republican nominee for Vice-President, made the following statement about funding for IDEA, or the Individuals with Disabilities Education Act.

“This is a matter of how we prioritize the money that we spend. We've got a three trillion dollar budget, and Congress spends some 18 billion dollars a year on earmarks for political pet projects. That's more than the shortfall to fully fund the IDEA. And where does a lot of that earmark money end up? It goes to projects having little or nothing to do with the public good -- things like fruit fly research in Paris, France, or a public policy center named for the guy who got the earmark. In our administration, we're going to reform and refocus. We're going to get our federal priorities straight, and fulfill our country's commitment to give every child opportunity and hope in life” (Oct 24, 2008 speech)

There is no doubt that more money needs to be spent on research and education of people with disabilities. However, the assumption here is that fruit fly research is a waste of time and money. Nothing could be further from the truth. The simple fact that we have an understanding of genetics can be traced back to Thomas Hunt Morgan and the first use of fruit flies.Since then, four Nobel Prizes, including one to Thomas Hunt Morgan (1933), have gone to "fruit-fly" researchers. Obviously the scientific community values the contributions of the fruit fly to the study of genetics.

The fruit fly Drosophila melanogaster has around 19,000 genes. In humans, if a disease is linked to a specific gene, there is around a 70% chance that a similar gene exists in Drosophila. Drosophila is a model organism for the study of many human-releated diseases, including behavior, aging disorders, Parkinson's, and Alzheimers

Research into Drosophila genomics paved the way for the Human Genome Project. In other words, research using fruit flies, and other model organisms such as the mouse, nematode (C. elegans), and weed (Arabidopsis thaliana) are critical towards our understanding of the molecular world of inheritance and disease.

Time to get some Straight Talk. We owe thanks to geneticists who use this model organism, not ridicule.

Additional links:

A Brief History of Drosophila’s Contributions to Genome Research


A Systematic Analysis of Human Disease-Associated Gene Sequences In Drosophila melanogaster


Homophila: human disease gene cognates in Drosophila