Personal genome glitch uncovered
As recounted in this New Scientist article and commented upon in Bio-IT World, journalist Peter Aldhous managed to uncover a bug in the deCODEme browser (Decode Genetics’ online tool for viewing parts of your own genome). deCODEme is one of a handful of services, including 23andme and Navigenics, that genotype small genetic variations called SNPs (snips; single-nucleotide polymorphisms) in DNA samples submitted by customers. The results are then used to calculate disease risks and other things, which are displayed to the customer in a personalized view of his or her genome.
Aldhous was comparing the output he got from two of these services – deCODEme and 23andme – and discovered that they were sometimes very different. After patiently going to the bottom of the matter, he discovered that the reason for the discrepancy was that the deCODEme browser sometimes (but not always) displayed jumbled output for mitochondrial sequences. According to Bio-IT World, the bug seems to have been due to an inconsistency between 32-bit and 64-bit computing environments and has now been fixed.
Isn’t this a nice example of computational journalism, where a journalist is skilled or persistent enough to actually analyze the data that is being served up and detect inconsistencies?
I might as well sneak in another New Scientist article about personal genomes. This one urges you to make your genome public in the name of the public good. It mentions the Harvard Personal Genome Project, which aims to enroll 100,000 (!!) participants whose genomes will be sequenced. The first ten participants, some of which are pretty famous, have agreed to share their DNA sequence freely.
I have no idea whether the Personal Genome Project is related to the Coriell Personalized Medicine Collaborative which also wants to enroll 100,000 participants in a longitudinal study where the goal is to find out how much utility there is in using personal genome information in health management and clinical decision-making