Mastering Genomic Terminology

Shared common meaning and precise language of highly technical vocabulary are critical to the field of medical genetics. Common misuses of terminology lead to fragmented communication not only with each other as medical practitioners, but can further cascade into miscommunication to patients. Of note, several commonly misused terms necessary to clarify distinctions between the two, include the following:

  • carrier ≠ heterozygote
  • polymorphism ≠ benign
  • mutation ≠ pathogenic
  • truncation ≠ premature stop codon
  • penetrance ≠ expressivity
  • exome/genome sequencing ≠ whole

With each of us becoming acutely aware of properly using these terms, it not only broadens our capacity to communicate with one another and homogenize the rhetoric associated with our robust knowledge bases, but it further allows us to better serve patients without sending mixed messages. To better understand the concise differences among some of these terms, you can read more from the paper by Gail Jarvik and Jim Evans here.