be “negative.” In fact, a novel missense mutation that may or may not be causative of the disorder, could be segregating with affected family members may (appropriately) not have been included in the report of incidental findings. An analogous situation has been noted with false negative findings in newborn screening.32 To insure that these considerations are properly presented to the clinicians, we recommend that laboratories develop an appropriate reporting metric that will make clear the extent of the evaluation that has been conducted. This will allow clinicians to consider the sensitivity of the analysis when making clinical assessments and will help avoid over-interpretation of a negative incidental (secondary) variant analysis.
