The term "mutation" was used for either a generic alteration or, more specifically, a change with disease implications. Also, the term "polymorphism" was used to explain those genetic alterations occurring at a frequency of 1% or higher. However, this dual usage has led to confusion and misinterpretation across various disciplines. To solve this problem, a shift away from the terms "mutation" and "polymorphism" has been adopted. Instead, a preference is given to using neutral terms such as "sequence variant", "alteration" and "allelic variant".
This move, towards neutrality in nomenclature, is especially crucial in the context of the new Human Genome Variation Society(HGSV) guidelines. The HGVS plays an important role in establishing standardised nomenclature, offering a common language for researchers, clinicians and bioinformaticians. The January 2002 issue of Human Mutation (Vol.19(1)) delves into this discussion, shedding light on the evolving problems associated with the term "mutation". Several scientists underscore the challenges posed by the negative interperation that "mutation" has acquired over time. Recognizing the impact of language on perception, authorative organisations now recommend the exclusive use of the term "variant" in their current guidelines.
This shift towards a more neutral and precise terminology is not only an exercise in semantics. It plays a cruical role for the accuracy and consistency of genomic research and clinical applications. In a field where there is the rapid exchange of information, standardised language ensures that findings are communicated accurately and unambiguously.
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