Razib Khan, author of Gene Expression at Discover Magazine, has a post up analyzing the genetic ancestry of a Malagasy individual who identifies as Betsileo in ethnicity. By itself, the post is not that remarkable. Using publicly available genetic data and software, Razib is able to break the genome of the Betsileo individual down into categorical parts, which suggest a strong degree of Malay and Bantu ancestry. What is remarkable is the process that led to this result. Dienekes Pontikos, in a post titled “citizen genetics,” describes it as follows:
This analysis was made possible by a number of different people:
1. Razib, who took the initiative and carried out the analysis
2. Scientists who wrote the software used
3. 23andMe, who sold a product providing genotype data
4. Donors, who paid for the test
5. The actual individual who contributed his/her DNA for science
For perspective, the Human Genome Project took 13 years, something like $3bn, and the coordinated efforts of labs and scientists around the world to produce a complete genome. What Razib has done would not be possible without that effort, but is result of interest, information and research tools within the public sphere. The contrast of two genomic analyses, less than a decade apart, is dramatic, and I think the implications are and will be huge. The rise of personal genomics is something I expect to write a great deal more about in this space, but for now I just want to provide a brief overview of the topic.
First, public curiosity for personal genomic information seems to be widespread. 23andMe, genomesunzipped and the 1000genomes project all testify to the spreading interest in personal genomic information. To a large extent this interest is enabled by dramatically reducing costs associated with a rapidly advancing technology for acquiring and analyzing genomic data. Science ran on a news piece back in July estimating the time of arrival for the $1000 genome as 2013. As the price continues to come down and more and more businesses enter the market, genomic information will become a larger part of our daily lives.
This information will change the way we live our lives. For many people, it already has. Genomic information has already produced dramatic changes within the biological sciences, including anthropology, in how we view the organization of life around us and the evolutionary processes which have shaped that pattern. How we conceptualize who we are as biocultural people – composed of a unique combination of genetic material and occupying our own unique time and place in the world – will change as this information becomes more widespread. How identify who we are in relation to who and where we are from will change.
How we interact with our doctors and think about our own health decisions will change. Last year a group of researchers and physicians based out of Stanford and Boston published the first clinical assessment of an individual incorporating our latest and best understanding (at least in the authors’ view) of personal genomic information in the British medical journal, The Lancet. This effort was just one part of a much larger and coordinated effort, involving scientists in different fields, the medical industry in its entirety, and politicians (both major presidential candidates in 2008 cited “personalized medicine” as a way to reduce costs), to more effectively use genomic information in health practices.
As a scientist, I welcome the massive influx of information associated with genomics. However, as an anthropologist I make a point of distinguishing from what I consider information, basic genomic sequencing results, and knowledge. I think knowledge is a far more difficult target to reach, and involves the incorporation of information into a rational, integrated and generative framework of understanding. The advancing technology in genomics has pushed the information available to us far ahead of our knowledge. Surely, we “know” a huge amount more than we did a decade ago, but we are still a long way from “knowing” what a personal genome actually tells us. I raise this point not as a skeptic of genomics, but as a cautionary note. Genomic information holds many promises, but more than most biological information about ourselves, genomics is not at all intuitive. Genetic systems involve complex interactions across hierarchical levels such that it is the minority of instances in which there is a simple causative association between any given part of the genome and a given phenotypic outcome. Human population history is complex enough that many different hypothetical models might produce a similar pattern of genetic variation. Knowledge about the genome requires not just the information, but enough of an understanding about the molecular framework, mathematical models, and biological systems that encapsulate that information to put that information into a meaningful context.
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1. Clinical assessment incorporating a personal genome. Dr Euan A Ashley et al. The Lancet – 1 May 2010 ( Vol. 375, Issue 9725, Pages 1525-1535 ) DOI: 10.1016/S0140-6736(10)60452-7
