The Genetic Genealogist

[This is a repost of an article that appeared on May 22, 2007. Since I'm knee-deep in final projects and exams, I thought I'd pull out a popular article from the archives. I hope you enjoy it (again)]:

Over the next week and a half I will be examining the Archon X PRIZE for Genomics, a challenge from the Archon X PRIZE Foundation to foster the development of efficient and inexpensive genomic sequencing. Not only will the X PRIZE for Genomics change the face of medicine, but it will also have an ENORMOUS impact on the field of genetic genealogy, which we’ll discuss in Part IV of the series. Stay tuned for all the information you need to know about the prize, and if you have any thoughts or questions please leave a comment!

History of the Archon X PRIZE for Genomics:
In 2003 the J. Craig Venter Science Foundation announced a $500,000 Genomic Technology Prize that would be awarded to an the group whose technology significantly enhanced “the field of high throughput DNA sequencing by enabling a human genome to be sequenced for $1,000 or less.” The Foundation believed that crossing this threshold would enable the majority of individuals to afford genomic sequencing as part of medical treatment.

By 2006, Dr. Ventor’s $1000 genome challenge was picked up by the X PRIZE Foundation to create the Archon X PRIZE for Genomics, a $10 million dollar incentive for the first successful team. To win the prize purse, the registered group must build a device and use it to sequence 100 human genomes within 10 days or less, with an accuracy of no more than one error in every 100,000 bases sequenced (that’s just 0.001%) for no more than $10,000 per genome. As of May 2007 there are three teams registered for the competition; VisiGen, 454 Life Sciences, The Foundation for Applied Molecular Evolution (FfAME), and Reveo, Inc. If you’re curious, Genomics & Proteomics Magazine has summarized a number of the leading technologies that are being developed in pursuit of the X PRIZE (very technical information).

In August 2005, the National Human Genome Research Institute announced that it had awarded grants in excess of $32 million to promote the development of sequencing technologies that would significantly lower the cost of whole-genome sequencing. At the time, it cost roughly $10 million to sequence a human genome (a 50-fold decrease from the previous decade), and the NHGRI set a final goal of $1000 or less for an entire genome. As the NHGRI pointed out, “the ability to sequence an individual genome cost-effectively could enable health care professionals to tailor diagnosis, treatment, and prevention to each person’s unique genetic profile.”

Four years later, has there been progress?
454 Life Sciences, for example, has just announced in March that they have essentially completed sequencing of James Watson’s genome, arguably the first time a single person’s genome has been sequenced (the Human Genome Project’s source of DNA was reportedly an amalgam of different sources). For those that don’t know (can there be anyone?), James Watson is famous for having discovered the structure of DNA over 50 years ago. Interestingly, Watson has asked 454 to withhold his results for the apoE gene – associated with Alzheimer’s disease – as well as a number of other results, citing privacy concerns. Watson, after all, has a son who received 50% of his genetic makeup from Watson’s genome. In light of this, 454 has decided to hand over the results to Watson, who will then decided what to release to the public. (See Marshall, Eliot, “Sequencers of a Famous Genome Confront Privacy Issues” Science 30 March 2007:Vol. 315. no. 5820, p. 1780DOI: 10.1126/science.315.5820.1780). 454 estimates that the six-fold coverage of Watson’s genome cost an estimated $1 million. Still a long way to go to reach the $1000 goal.

Meanwhile, Reveo, Inc. just joined the competition on April 30^th of this year, but Reveo’s founder, Dr. Sadeg M. Faris, believes that their technology will eventually be able to read an entire human genome “in minutes for pennies per genome.”

In the next post I will be examining whether or not the $1000 genome is really necessary considering recent developments in a related field.

The X PRIZE Foundation has released a video that explains the aims of the project.

[Since this article posted on May 22, 2007, there have been MANY developments towards the $1,000 genome. To learn more, visit the archives here at TGG, or search using the search box in the sidebar.]