Double helix, courtesy NIH/National Genome Research Institute
It’s the 10th anniverary of the coding of the human genome. Snuck up on me — but not on Nature or Reuters. Both of these outfits — two of the best science/med reporting teams out there — published big, beautiful, multipart packages today. They’re worth a look even if you’re not a genome geek.
Reuters looks at what NIH director and former director of the National Human Genome Research Institute Francis Collins found when he finally had his genome run last summer: a disposition for type-2 diabetes, among other things. Collins was test-driving three of the biggest genome-sequencing companies (Navigenics, 23andm3, and DecodeMe) to see if they’d produce similar results. They all agreed he ran extra risk for diabetes. He reacted by losing 25 pounds — but “as a rule,” the story says, Collins
doesn’t consider such tests especially useful — at least not yet. says he feels genomic information provided so far doesn’t offer all that much. “Admittedly, right now your family history may be your best bet and it doesn’t cost anything,” he said.
The story, accompanied by solid “Factbox” sidebars and a couple videos that look intriguing, gives a nice overview of the fIeld. Meanwhile, Nature pulls out quite a few stops with a package that highlights the value of having their entire news department now freely online. I’m not all the way through it yet, but this looks to be a splendid collection of stories — perhaps as good a reading assignment as you could ask for. The opening essay, by Erika Check Hayden, nicely outlines how cracking the genome 10 years ago has — in the new new discoveries so often do — opened up perhaps more vistas and questions than it has fully answered.
Few predicted, for example, that sequencing the genome would undermine the primacy of genes by unveiling whole new classes of elements — sequences that make RNA or have a regulatory role without coding for proteins. Non-coding DNA is crucial to biology, yet knowing that it is there hasn’t made it any easier to understand what it does. “We fooled ourselves into thinking the genome was going to be a transparent blueprint, but it’s not,” says Mel Greaves, a cell biologist at the Institute of Cancer Research in Sutton, UK.
Instead, as sequencing and other new technologies spew forth data, the complexity of biology has seemed to grow by orders of magnitude. Delving into it has been like zooming into a Mandelbrot set — a space that is determined by a simple equation, but that reveals ever more intricate patterns as one peers closer at its boundary.
The regulation of gene expression, she notes — that is, what makes genes turn on and off — “seemed more or less solved 50 years ago” and could be concisely summarized: “‘The crux of regulation,’ says the 1997 genetics textbook Genes VI (Oxford Univ. Press), ‘is that a regulator gene codes for a regulator protein that controls transcription by binding to particular site(s) on DNA.'”
Well okay so that’s not so concise. Yet the past decade “has exploded that view” and made it clear that all sorts of elements previously dismissed, such as “junk DNA,” play crucial roles. Here genomics echoes neuroscience, which has moved glia, for instance, from bit players to key players.
Brings to mind the island metaphor of knowledge: Learning is like growing an island into the sea of the unknown: you make the island bigger because you know more, but as you do, the shorelines — where what you know meets the unknown — grows exponentially. The Nature package provides a pretty good aerial map.