There’s a nice roundup of the problems faced by current chip-based techniques to find disease-gene associations. This is the technique practiced by 23andme.
Current chip-based technologies for genome-wide analysis, while having some success in identifying the lowest-hanging genetic fruit for many common diseases, seem to have already started to run up against barriers that are unlikely to be overcome by simply increasing sample sizes. These technologies should really be regarded as little more than a place-holder for whole-genome sequencing, which should become affordable enough to use for large-scale association studies within 3-5 years.
Nothing beats a large, diverse library of full sequences. There will be many a position available for the enterprising bioinformaticians needed to compile and interpret this data store.
The Personal Genome Project aims to collect the genetic information of 100,000 people. According to Misha Angrist, one of the first ten volunteers, the cost to them will be about $1000, and it will cover the “exome”, or the protein-coding sequence of all 22,000+ known genes. This is still a tiny fraction of the total genome, though it’s significantly greater detail than the ~650000+ SNPs covered by 23andme for the same amount of money. More significantly, the PGP’s mission is to provide a benefit to society through research, whereas 23andme is for personal curiosity and there’s no explicit research infrastructure. Users of either service may find it useful to consult with a genetic counselor, such as DNA Direct or a service such as IMD, covered under some insurance plans. Fellow science blogger Dr. Hsien-Hsien Lei is affiliated with DNA Direct.
More coverage here:
Genomics: Being Well Informed
Geek Doctor: Life as a Healthcare CIO
The Personal Genome Project
The PGP Blog