It’s a tricky think, finding the right incentive to encourage risk-taking. If the challenge is too easy, then the prize is just icing on the cake of regular effort. If the challenge is too hard, there’s no new innovation and everyone twiddles their thumbs.
Such was the case with the Genomics X Prize. Originally the Prize would go to whomever managed to sequence 100 human genomes within 10 days for under $10,000 per genome. While price has plummeted to under $10,000 per genome, the time requirement and disagreements over how to judge performance led to no one claiming the prize.
As of today, the rules have changed. In January 2013, the new prize competition will take place. Competitors will have one month to sequence the genomes of 100 centenarians. They must meet a per genome price of $1000 and be accurate to within 1 error per million bases. The sequencing must also be at least 98 percent complete to take home the $10 million. The X Prize folks are describing the outcome of this effort as a ‘medical grade’ genome – reaching a critical level of detail allowing genomic information to be medically useful. This distinction strikes me as both interesting and troubling, as I suspect most of the public would consider genomic information to be medically useful. From the Prize FAQ (all boldface is theirs):
“Currently, genome sequencing produces, at best, research-grade genomes for study. Through the Archon Genomics X PRIZE presented by Medco, each set of the 100 human genomes will be sequenced by a competing Team. Depending on the number of Registered Teams, each genome could be sequenced independently up to 10 or more times! At the end of the competition in February 2013, all of the genomes will be examined for missing sequences. Where one Team misses a sequence, another Team will fill in the missing information. By comparing and combining the results from each Team, each of the 100 genomes will be more “complete” than any other genome, These composite redundant sequences will, for the first time in human history, provide scientists around the world with 100 whole genome sequences of unmatched medical-grade fidelity.”
So this seems to be an issue of completeness…and tells me nothing of how more useful/effective/whatever this medical-grade genome would be.
Also from the FAQ:
“What Is The Difference Between Whole Human Genome Sequencing And Direct To Consumer (DTC) Genetic Testing?
“Whole Human Genome Sequencing is the process of determining the exact order of the three billion bases that make up the DNA within the 23 chromosomes in each human cell.
“The sequencing completed by scientists to date has helped reveal the estimated 25,000 human genes within our DNA as well as the regions controlling them.
“Direct To Consumer (DTC) Testing
“Direct-to-Consumer (DTC) genetic testing is a service provided by private companies to individuals wanting to know their predisposition to known disease markers or their ancestry. You can purchase this type of genetic test without going through your insurance provider or primary care physician.
“The DTC Tests do not reveal the entire human genome, rather portions of the genome where mutations can be detected for predispositions to various diseases. For well-informed consumers, DTC tests may provide another perspective to guide their healthcare and satisfy curiosity about their ancestry. The risk of DTC testing is that the test results may not be clinically validated and are not yet regulated by the FDA, which could lead to consumers making important decisions on their healthcare based on inaccurate information.
“NOTE: At this time, there is no government agency regulating or validating claims of accuracy for whole genome sequencing or DTC testing.”
In essence, the genome test you can get now may not tell you much, or provide you with just enough information to think you can make a conclusive decision. To be fair, all a medical-grade genome will be able to tell you is predispositions to various things that are genetically determined or influenced. That’s not enough information on which to base medical decisions. Which is why I still think regulation of genetic tests (while preserving the right of people to have access to their own genetic information) makes sense. Maybe I’ll reconsider if there’s a Genetics X Prize on how to deliver effective genetic counseling to people buying genomic tests online or at their local pharmacy.