The Genomics Edit
A practical explanation of variants of uncertain significance and why uncertainty is not a diagnosis.
By Lauren Moissiy, MS, LCGC
Editorial draft for review. Research claims and sources require author verification before publication.
In this issue
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What the evidence shows
Editorial draft for review. A variant of uncertain significance, or VUS, is a DNA change for which there is not enough evidence to determine whether it contributes to disease. It is not a positive diagnosis. Medical decisions generally should not be based on a VUS alone; your personal and family history still matter. Laboratories review population data, research, and observations from families. As evidence develops, a variant may be reclassified. Not every VUS will be reclassified, and timing cannot be predicted. Keep a copy of your report and ask how updates are communicated. Do not assume relatives need testing solely because you received a VUS; a genetics professional can explain when family studies may be informative. Educational information only; not individualized medical advice.
What remains uncertain
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What this means for you
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Lauren’s take
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Sources and further reading
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