Popular science writing about genetic diseases, and even “common language” explanations by some scientists, use a term that conveys the wrong concept.
Let me vent a little. I’m writing a statement for an up-coming meeting on genomics, medicine and law. I keep crossing a turn of phrase in the articles intended for a general audience that I dislike.
It’s commonly written “a patient carries a copy of a gene for a disease” or “a patient has a disease gene”, rather than “a patient has a change (or mutation) in the (normal) gene for X which results in disease Y”.
Sure, it’s a convenient short-hand.
It’s not helped that it’s legitimised by some scientists using it either but it’s laziness, really.
The trouble–as I see it–is that scientists are well aware that it’s a shorthand that isn’t to be read literally. When read literally it conveys the wrong concept.
How are general readers to know that?
To me a large part of science communication is conveying the concepts. The concept here is not that the patient has a new gene that causes a disease, it’s that they have a variant of the normal gene that causes a disease.
For those so inclined, the formal term for ‘a variant of a gene’ is ‘allele’. I’m not expecting this term to pop up in popular science any time soon. I do wish people would try convey the right concept, though.
It’s lazy to write otherwise, to my mind.
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