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Published online 30 October 2007 | Nature | doi:10.1038/450011a
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Personalized genomes go mainstream
Companies prepare to offer a very personal service.
When scientists released a draft of the human genome sequence six years ago, they said the data belonged to all of us — but until now, they have been the only ones able to play with the data therein.
That's now starting to change.
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The news that two Silicon Valley start-ups, 23andMe of California and Navigenics of Redwood Shores, will soon start providing customers a glimpse of their genomes for a few thousand dollars (Nature 450, 11, 2007) is indicative of public interest in personal genomics. The experiment in which Personal Genome Project will shortly release genetic and other data on ten volunteers to test how these data are used, or misused, by participants and the public (Nature 450, 11, 2007) will be illuminating. Earlier, the editorial 'Do-it-yourself science' (Nature 449, 755, 2007) presented a very balanced view on how much involvement can patient advocates have in genetics. I however wish to tilt the discussion in favor of the do-it-yourself approach because of the reason that disease gene discovery may at times need walking extra miles beyond available knowledge - and data-bases. And, given the emotional attachment, it is not very difficult to imagine that patients or their advocates are more prone to walk these extra miles with much needed killer instincts. Hugh Reinhoff’s story in the News Feature article 'Personal Genomics: His daughter's DNA' (Nature 449, 773, 2007) makes the point; that how, by screening different genes, Reinhoff attempts to find out the genetic variation(s) underlying congenital defects in his daughter. Due to inherent statistical problems involved, discovery of gene(s) responsible for common diseases such as diabetes, for example, may require venturing into biological processes and biochemical pathways with an intensity and seamlessness that may not be supported by structured knowledgebases that are available. Given the above, I strongly believe that do-it-yourself approach has certain advantages in discovery genetics because chances are that hypotheses that are going to be tested in this approach would be discoveries in themselves. Here I am reminded of Nick Nolte and Susan Sarandon starrer Lorenzo’s oil, a powerful film depicting story of a father who discovers a dietary treatment for his son suffering from the X-linked cerebral disease adrenoleukodystrophy (ALD; see Nature 361, 695, 1993 for a film review; Nature 361, 682, 1993 and Nature 364, 476, 1993 for contemporary known efficacy of the Lorenzo's oil; Nat. Clin. Pract. Neurol. 3, 140, 2007 for current therapeutic status of Lorenzo’s oil; also see Nature 365, 590, 1993). A neurometabolic disease, ALD is known to involve accumulation of very long chain fatty acids (VLCFA). Interestingly, Lorenzo's oil, discovered by Lorenzo’s father, Augusto Odone, was found to reduce the levels of the offending VLCFA in the blood of ALD patients (Nature 364, 476, 1993). It was worth noting the following in the aftermath of film release and backlash against the film in certain quarters of the medical and scientific press, "... the only hope for boys suffering from ALD is Lorenzo’s oil or possibly bone marrow transplantation; even physicians who have publicly questioned the efficacy of the oil are continuing to prescribe it. ... the Odones have shown that lay people can make important intellectual and supportive contributions to science" (Nature 364, 476, 1993). I think Personal Genomics is indeed in search of its own Lorenzo’s Oil. (Posted on behalf of Abhay Sharma)