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Tweeting ASHG

Researchers seeking to discover meaningful and specific discoveries in the human genome are pursuing elusive dreams, David Dobbs writes at Slate.

Genetics is "a high-profile field dealing with a lot of humbling snags," says Dobbs, who is working on a book about genetics research. The tweets that bubbled out of last week's American Society of Human Genetics meeting serve as testament to the "struggle and confusion" in an area of science that appears to be fast-moving, but which really is a slog.

Celebrations over 'Eureka!' moments in this field – such as the discovery of new disease-risk genes – so often slowly dissolve into a series of drudge details to try to fully flesh out how genes function in the genome. And even when a scientist establishes a firm link between certain genes and certain functions, someone else is likely to toddle along soon enough with evidence debunking those links, he says, referring specifically to the news that a test for autism "has no predictive power."

Look at the current list of cancer-risk genes, Dobbs says, which contain many false positives. Or consider the "real possibility that the majority of cancer predisposition genes in databases are wrong," he adds referring to a tweet from Harvard Medical School's Daniel MacArthur.

As a glimpse into the "bizarre but lovely state of confusion" that exists in the genetics field, Dobbs talks with MacArthur, who in the early 2000s identified the ACTN3 gene as providing "a huge boost to athletic performance."

Upon further study, by MacArthur and others, it was found that the gene appears to only help sprinters, and among this group the benefit was difficult to measure and its effect was probably modest, as most elite sprinters already have two undamaged copies of the gene.

MacArthur's experience is becoming the norm for genetics, Dobbs says.
"It’s almost like a rite of passage. A smart young geneticist — sometimes not so young — finds an effect linked to a particular gene, slaps high-fives around the lab, publishes … and then finds the effect turns out to be muddy, faint, and ambiguous."