If you want a look at a high-profile field dealing with a lot of humbling snags, peer into #ASHG2013, the Twitter hashtag for last week’s meeting of the American Society of Human Genetics, held in Boston. You will see successes, to be sure: Geneticists are sequencing and analyzing genomes ever faster and more precisely. In the last year alone, the field has quintupled the rate at which it identifies genes for rare diseases. These advances are leading to treatments and cures for obscure illnesses that doctors could do nothing about only a few years ago, as well as genetic tests that allow prospective parents to bear healthy children instead of suffering miscarriage after miscarriage.
But many of the tweets–or any frank geneticist–will also tell you stories of struggle and confusion: The current list of cancer-risk genes, the detection of which leads some people to have “real organs removed,” likely contains many false positives, even as standard diagnostic sequencing techniques are missing many disease-causing mutations. There’s a real possibility that the “majority of cancer predisposition genes in databases are wrong.” And a sharp team of geneticists just last week cleanly dismantled a hyped study from last year that claimed to find a genetic signature of autism clear enough to diagnose the risk of it in unborn children.