(NHGRI)
Seven words someone taking a genetic test doesn’t want to hear:
“You have a variant of uncertain significance.” A VUS.
Instead of a yes or no answer – a gene has a mutation or it doesn’t – a VUS is a “not the usual, but we don’t know if it’s harmful.” A maybe.
But like a typo to just one letter on a page, single DNA base substitutions in a gene’s sequence might not alter the meaning of the encoded protein. This can happen as a change:
• of one three-base codon to another that specifies the same amino acid
• to a similarly-shaped amino acid
• in a part of the protein that’s not essential to it’s function.
Each of us has thousands of variants of uncertain significance, but we don’t know about them unless we take a genetic test. A VUS in a member of a family riddled with certain types of cancer can be stressful, especially if a surgical decision rests on genetic test results.
Misinterpretations can have tragic consequences. Read More
“You have a variant of uncertain significance.” A VUS.
Instead of a yes or no answer – a gene has a mutation or it doesn’t – a VUS is a “not the usual, but we don’t know if it’s harmful.” A maybe.
But like a typo to just one letter on a page, single DNA base substitutions in a gene’s sequence might not alter the meaning of the encoded protein. This can happen as a change:
• of one three-base codon to another that specifies the same amino acid
• to a similarly-shaped amino acid
• in a part of the protein that’s not essential to it’s function.
Each of us has thousands of variants of uncertain significance, but we don’t know about them unless we take a genetic test. A VUS in a member of a family riddled with certain types of cancer can be stressful, especially if a surgical decision rests on genetic test results.
Misinterpretations can have tragic consequences. Read More