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Clinical genetics and the problem of uncertain significance
Clinical genetics: Aspiring to perfect certainty in an imperfect world.
These so-called variants of unknown significance(VUS) call attention to the chasm between our technological capability to detect genetic variation and our ability to understand the biological importance of it. When a VUS is identified, it means that a coding difference, typically a missense variant (meaning a DNA substitution that causes one amino acid to be substituted for another) in a protein-coding gene, has been detected by a specific type of assay that reads the DNA sequence, but despite the best efforts of genetics professionals to evaluate the effect of that coding difference, there simply isn't enough evidence to make a confident call (see the visual for the evidence thresholds below). This re-opens the reporting debate I alluded to earlier, but it likely represents some improvement over throwing the overwhelming majority of observed variant during genetic testing in the gray zone.
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