genomics & society

Posts Tagged ‘mutation’

Elizabeth Taylor Was A Mutant

Posted by Myra I. Roche on April 16, 2012

Thanks to the world of sci fi movies, the word “mutant” has become nearly synonymous with highly visible, grotesque, morphological changes such as those seen in menacing alien creatures roaming the barren landscape.  In an unfortunate, guilt-by-association relationship, the related word mutation shares a similar sinister connotation.  Since colloquial meanings consistently trump wikipedia definitions, many genetic professionals studiously avoid using the “m” word during a genetic counseling session for fear they will trigger a negative visceral reaction.  Why elicit such a deer-in-the-headlight response from parents that will only damage our ability to establish and maintain rapport?  In response, softer and gentler synonyms have evolved in the genetic counseling language including: a genetic change, a genetic variant, and a genetic difference.  While none of these substitutes are completely satisfactory, their saving grace is they don’t pack the emotional punch of the word mutation.  But then, maybe parents don’t understand precisely what these synonyms mean. Which, perhaps, is exactly the point.

Interestingly, the pure, scientific definition of the word mutation is neutral, not pejorative.  A mutation simply means a permanent heritable change in the genome.  Note the lack of judgment.  The word itself provides no hint whatsoever whether the change results in a negative OR a positive effect.  This neutrality is indeed one of its strengths.  We just always seem to concentrate on the negative while forgetting about the possibility of the positive.

But now  the word mutation has a final chance to redeem itself by being paired with someone who many would consider an anti-mutant, Elizabeth Taylor.  According to this recent story on Slate, after “Liz” was born, her parents were told she had a “mutation”.  Their response was predictable:  “Well, that sounded just awful,” (Elizabeth’s) mother later recalls, “a mutation.”  We can even hear the imaginary exclamation pointSo which grotesque feature did Liz show that led to this startling conclusion?  Nope, wrong mutation; not the violet eyes.  Read the rest of this entry »

Advertisements

Posted in Genetic Counseling | Tagged: , , | Leave a Comment »