Genomics is raising a mirror to humanity, producing some surprising reflections

THE decade since the genome announcement has seen many remarkable results. Vying with Dr Venter’s synthetic life for the title of the most extraordinary was the announcement on February 12th 2009 (by no mere coincidence Charles Darwin’s 200th birthday) that a second species of human had had its genome sequenced. Svante Paabo, the inspiration for Michael Crichton’s novel and film, “Jurassic Park”, told a meeting of the American Association for the Advancement of Science that his team at the Max Planck Institute in Leipzig had a version of Neanderthal man’s DNA to compare with that of modern humans.

The actual comparison was not published until six weeks ago, on May 6th. It was, however, worth waiting for. It showed similarities between the species (in, for example, the FOXP2 gene that helps govern the ability to speak) as well as differences (in several genes connected with cognitive ability). These differences are obvious places to start looking for the essence of modern humanity—the things that distinguish Homo sapiens from other animals, including other types of human, and thus accounts for the extraordinary flourishing of a species that is now estimated to make use of 40% of the net primary productivity (the energy captured by photosynthesis and converted into plant matter) of the planet’s land surface. …

Everyday genomics is coming, ready or not

IT IS 2020. You are watching the latest episode of CSI Miami. Horatio and the team have a murder to solve. The murderer has conveniently left a DNA sample behind. In fact, since a single strand of the molecule can now be detected and analysed, he could hardly avoid having done so. Not so conveniently, he is not on the database—wishy-washy civil libertarians having prohibited the collection of DNA records about the unconvicted.

Never mind. Horatio pops the sample in a state-of-the-art sequencing machine and out comes a picture of what the suspect looks like—or, rather, a series of pictures of his likely appearance at five-year intervals from age 15 to age 50. Cross-reference these with Florida’s driving-licence database, and the team has its man. …

Individualised genomics has yet to take off

ONE way of trying to make money out of the new genomic knowledge has been to offer what has come to be known as “personal genomics”. The results, to put it charitably, have been mixed, and for good reason. The price point is wrong, observes Douglas Fambrough of Oxford Bioscience Partners, a venture-capital firm based in Boston. What you learn from looking at your genome is not yet worth the price you have to pay. Either the price must come down or the value of the product must rise. Both may happen when the latest generation of DNA sequencers are more widely deployed, but at the moment most personal-sequencing companies use gene chips to give a SNP profile, rather than offering a complete sequence.

Two of the earliest entrants to the field were deCODE and 23andMe. DeCODE, an Icelandic firm whose aspirations to become a full-fledged pharmaceutical company were dealt a blow when it went through a bankruptcy restructuring earlier this year, charges $2,000 to search a sample for 1m SNPs predictive of 50 genetic traits, not all of them diseases. Theragen makes a similar offer from South Korea. 23andMe, based in Mountain View, California, charges $499 to search more than half a million SNPs for signs of 154 traits. Navigenics, down the road in Foster City, restricts its analysis ($999) to 28 health conditions and 12 drug responses “that you and your doctor can act on”. Complete Genomics, another Californian firm (Mountain View again), plans to leapfrog the chip-based crowd by offering customers full DNA sequences using a complicated proprietary technology that will not, initially, be for sale to other users. And Knome, a firm based in Cambridge, Massachusetts, offers a bespoke whole-genome service for the discerning client at $68,500 a pop. …