Further to Rethinking the links between genes and disease, from Erica Check Hayden at Nature:
Many disease-association studies, particularly in recent years, have identified mutations as pathogenic simply because scientists performing analyses on a group of people with a disorder found mutations that looked like the culprit, but didn’t see them in healthy people. But it’s possible that they weren’t looking hard enough, or in the right populations. Baseline ‘healthy’ genetic data has tended to come mainly from people of European descent, which can skew results.
…
In August this year, MacArthur’s group published its analysis of ExAC data in Nature, revealing that many mutations thought to be harmful are probably not. In one analysis, the group identified 192 variants that had previously been thought to be pathogenic, but turned out to be relatively common. The scientists reviewed papers about these variants, looking for plausible evidence that they actually caused disease, but could find solid evidence for only nine of them. Most are actually benign, according to standards set by the American College of Medical Genetics and Genomics, and many have now been reclassified as such.
An obvious problem is people rushing to make drastic decisions based on misidentified associations. In any event, some genes only slightly increase a risk; not enough to bother much about. Further good news:
ExAC is quietly becoming a standard tool in medical genetics. Clinical labs around the world now check it before telling a patient that a particular glitch in their genome might be making them ill. If the mutation is common in ExAC, it’s unlikely to be harmful. Geneticist Leslie Biesecker at the US National Human Genome Research Institute in Bethesda, Maryland, says that his lab uses ExAC daily in patient care. “It’s a critical factor that we take into consideration for every variant,” he says. He and other geneticists are now embarking on a painstaking reckoning with the genetics literature that will probably take years.More.
Good. We all have enough real problems to worry about.
See also: Rethinking the links between genes and disease Nature: Each person has lurking in their genome an average of 54 mutations that are currently considered pathogenic — but that about 41 of these occur so frequently in the human population that they aren’t in fact likely to cause severe disease.
and
Protozoans with no dedicated stop codons
Follow UD News at Twitter!