There is a lot of discussion in the field of genetics surrounding whether or not to retire the term "mutation.”
The word “mutation” has been used by geneticists since the inception of the study of genetics to describe genetic variations. However, as science and research evolves, so too does language.
Is “genetic mutation” an accurate term?
Many researchers and medical professionals, such as genetic counselors, feel that the term “mutation” doesn’t accurately reflect what is known about genetics today.
Some mutations have no negative impact on a person’s health at all. A change in a gene from what is “normal” can be as benign as the reason behind why some people have blue eyes and some people have brown eyes. Some mutations are neutral and are the reason why there’s normal variation between each and every individual.
To reflect the possible neutrality of a mutation, the American College of Medical Genetics and Genomics (ACMG) issued guidelines in 2015 that recommend the usage of the term “variant” in place of “mutation.”
They also created a classification system to help medical professionals interpret the impact of a variant. Variants are classified as:
Benign (no impact on health)
Likely Benign (likely no impact on health, but not enough evidence to say with certainty)
Unknown Significance (not enough evidence to classify a variant as either benign or pathogenic)
Likely Pathogenic (likely disease-causing, but not enough evidence to say with certainty)
Pathogenic (disease-causing)
Why we still call them mutations
At Youngtimers, we feel strongly about providing accurate scientific information. We’re happy this new terminology reflects science accurately, and that it’s becoming more commonly used.
But many in our community hold the term “mutation” closely to their heart. Our familial Alzheimer’s community has a history of embracing the term “mutation,” with many calling themselves “mutants” and the “X-Men.”
Our community finds great strength in our greatest weakness -- we are a community of superheroes who will help find a cure for Alzheimer’s disease!
For this reason, we choose to use the term mutation instead of variant. Just know that when we say “mutation”, we are referring to “likely pathogenic” variants and “pathogenic” variants.
“Genetic variant” and “genetic mutation” typically mean the same thing
The term “variant” is the more up-to-date and accurate version of the label. People who use either term are usually referring to the same thing. Here at Youngtimers, we choose to call them mutations.