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The article reports, "'The long game here is not to make money selling kits, although the kits are essential to get the base level data,' says Patrick Chung, a
by tokenadult 13y ago
The article reports, "'The long game here is not to make money selling kits, although the kits are essential to get the base level data,' says Patrick Chung, a 23andMe board member and partner at the venture-capital firm NEA. 'Once you have the data, [the company] does actually become the Google of personalized health care.' Genetic data on a massive scale is likely to be an extremely valuable commodity to pharmaceutical companies, hospitals, and even governments. This is where the real growth potential is."
This statement is based on the assumption that once 23andMe has the 25 million people sign up that the founder desires, that their genotypes (at the resolution of testing that 23andMe can provide) will actually provide a lot of actionable information.
But there is a LOT of reason to doubt that hope. I was just at the weekly meeting of my alma mater's journal club on behavior genetics today, and the papers we discussed today are about rare variants in DNA and their possible relationship to human disease.
Casals, F., & Bertranpetit, J. (2012). Human Genetic Variation, Shared and Private. Science, 337(6090), 39-40. doi: 10.1126/science.1224528
Brookes, K. J. (2013). The VNTR in complex disorders: The forgotten polymorphisms? A functional way forward? Genomics, 101(5), 273-281. doi: 10.1016/j.ygeno.2013.03.003
Maurano, M. T., Humbert, R., Rynes, E., Thurman, R. E., Haugen, E., Wang, H., . . . Stamatoyannopoulos, J. A. (2012). Systematic Localization of Common Disease-Associated Variation in Regulatory DNA. Science, 337(6099), 1190-1195. doi: 10.1126/science.1222794
Schork, A. J., Thompson, W. K., Pham, P., Torkamani, A., Roddey, J. C., Sullivan, P. F., . . . Schizophrenia Psychiat Genomics, C. (2013). All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs. Plos Genetics, 9(4). doi: 10.1371/journal.pgen.1003449
It is dismaying likely that even millions of well-genotyped samples will provide very little illumination of the development of disease risk in human beings. For you to get actionable information from 23andMe, moreover, you have to count on 23andMe having detailed personal health information about yourself and the other 23andMe customers: "But first Wojcicki needs spit. Her goal is to sign up a million customers by the end of 2013. Eventually, she says, 'I want 25 million people. Once you get 25 million people, there's just a huge power of what types of discoveries you can make.'" Translated into English, that says that the company has very little information to offer yet, and wants you to pay for the privilege of providing highly personal information in the hope that the company can use your information to draw in other customers. I'm not optimistic that that will even help your fellow customers, as I learn more about current genomics research. This business plan certainly puts a premium on the company having ironclad guarantees of customer data privacy, and gathering lots of personal health information on the strength of those guarantees. It's an open question whether this is really a good trade-off for you or me or any other individual.
- Diamons 13y agoI got the chance to meet Patrick Chung at Stanford once. If he says that's what 23andme can become, I honestly believe it. He showed incredible insight into startups and emerging markets when I met him.
- computer 13y agoThe insight needed here (and alluded to by GP) is not into startups and emerging markets: it's about what you can actually do with DNA and the DNA analysis that's being done by 23andme. In my opinion (as a statistician with minor bio experience) the future of predicting health things based on just DNA is uncertain, except for direct remedies for known current conditions like certain forms of cancer. (i.e. as a response to disease, in actual personalized medicine)
- dekhn 13y agoWere you aware that 23&Me also had an exome sequencing pilot ? https://www.23andme.com/exome/ https://www.23andme.com/exome/ That addresses the "resolution of testing that 23andMe can provide". The other point is that humans cluster into a small number of haplogroups, and with a small number of WGS or exomes, we can impute many things on the other lower-resolution data based on the fact people are very closely related. I'm not defending the current approaches (GWAS, etc). They are known-broken. Nor am I defending exome sequencing - also known-broken. Anyway, it's trivial now to do 1000+ genomes at 4X coverage, which gets you many of the rare variants. Of course, at the end of the day, the current approaches are unlikely to unlock the full medical potential of the genome. Most people studying genomics and health have very limited mental models of how cells and tumors and organs work, and none of the existing methods really do anything beyond correlation analysis on noisy data.
- toomuchtodo 13y agoI was a 23andme.com customer from the very beginning; didn't know they had an exome beta. Thanks for the info, signed up waiting to be in the next batch!