In the genes?

Yes, but then you turn to Carole Cadwalladr’s article in the Observer Review on having her genome sequenced. It made me seethe.

The article itself is fine – she does a good job of relating what she was told. But some of this genomics stuff is starting to smell strongly of quackery. Cadwalladr went to a symposium organized by the biotech company Illumina, which – surprise! – is selling sequencing machines. This is what the senior VP of the company said: “You’ll be able to surf your genome and find out everything about yourself.” Everything. One can, apparently, make such a blatantly, dangerously misleading statement and confidently expect no challenge from the assembled crowd of faithful geneticists.

Well, here’s the thing. I happened to be doing an event on Saturday at a literary festival with Steve Jones, and Steve said a great deal about genetics and predestiny. What he said was a vitally needed corrective to the sort of propaganda that Illumina is seemingly spouting. “Genetics is a field in retreat”, he admitted, saying that he has resisted producing a revised version of his classic The Language of the Genes because the field has just become so complicated and confusing since it first came out in 2000. He pointed out that a huge amount of our destiny is of course set by our environment and experience (I never knew, until Steve told me, that Mo Farah has an identical twin who is a car mechanic in Somalia). We discussed the idiocy of the “gene for” trope (the cover of the New Review has Cadwalladr saying “I don’t have a gene for conscientiousness” – but neither does any single bloody person on the planet).

There’s a huge amount of useful stuff that will come from the genomics revolution, and some people might indeed discover some medically valuable information from their genome. But the most common killer diseases, such as heart disease, will not be read out of your genome. I saw recently that at least 500 genes have been associated so far with some types of diabetes. We have 23,000 genes in total, so it goes without saying that those 500+ genes are not solely linked to functions that affect diabetes. The scientists and technologists are still grossly mis-selling the picture of what genes ‘do’, implying still that there is this one-to-one relationship between genes and particular phenotypic attributes. Steve pointed out that we still can’t even account, in genetic terms, for more than about 10 percent – the figure might even have been less, I don’t remember – of the inheritability of human height, even though it clearly does have a strong inherited influence. This is one of the issues I wanted to point to in my recent Nature article – we have little idea how most of our genome works.

One of the most invidious aspects of Cadwalladr’s piece comes from the way the folks at the symposium discussed BRCA1, the “Angelina gene”. There was no mistaking the excitement of the first speaker, Eric Topol of Scripps, who apparently said “This is the moment that will propel genomic medicine forward. It’s incredibly important symbolically.” In other words, “my field of research just got a fantastic celebrity endorsement.” But did anyone at the meeting ask if Jolie had actually made the right choice? It was an extremely difficult choice, but a cancer specialist at NIH I spoke to recently told me that he would not have recommended such a drastic measure. Steve Jones had a similar view, saying that there are drugs that are now routinely taken by women with this genetic predisposition. The good thing about such genomic information is that it could motivate frequent testing for people in such a position, to spot the onset of symptoms at the earliest opportunity (early diagnosis is the most significant factor for a successful treatment of most types of cancer). But Jolie’s case shows how a distorted message about genetic determinism, which the companies involved in this business seem still to be giving out, can skew the nature of the choices people will make. There’s a huge potential problem brewing here – not because of the technology itself, which is amazing, but because of the false confidence with which scientists and technologists are selling it, metaphorically and literally.