ELI5: Explain Like I'm 5

Penetrance

Hi there! Today we’re going to learn about a big word called “penetrance.”

Have you ever heard the phrase “actions speak louder than words?” That means when someone does something, it shows their true intentions more than just saying they’re going to do it.

Penetrance is like that – it’s when a gene does what it’s supposed to do. Genes are like tiny instruction manuals in our bodies that tell us how to grow and function. Sometimes, a gene can have a “mistake” in it, which can cause problems.

That’s where penetrance comes in. If someone has a gene with a mistake or mutation, it doesn’t always mean they will have the condition or disease associated with that mutation. Penetrance is how likely the gene is to cause the condition, or how “loud” it speaks.

Let’s say you have a gene that, if it works properly, is supposed to make your eyes brown. But if there’s a mistake in that gene, it might not work as well and you could have blue eyes instead. If that gene has a high penetrance, it is very likely that you will have blue eyes if you have the mutation. If it has a low penetrance, you might still have brown eyes despite having the mutation.

Penetrance is important for medical professionals because it helps them predict how much a genetic mutation will affect their patients. It can also help people understand their own risk for certain conditions based on their genetics.

So, in short, penetrance is the likelihood that a gene with a mutation will cause the associated condition or disease.