As genetic testing becomes commonplace both at home and in the doctor’s office, you’re likely to hear some new terms that may be unfamiliar to you. You might also hear some familiar terms in entirely new contexts—perhaps you already know a word or phrase, but it’s not immediately clear what it means in reference to your DNA.
There’s one term in particular that we’d like to focus on today: “actionable,” as in “actionable insights” or “actionable health insights.”
We want to highlight “actionable” for two reasons: one, it’s extremely important, and it sets certain kinds of genetic insights apart from others. Two, it’s in the name of the newest product to launch with Helix, so it’s especially helpful to know what we’re talking about!
GenePrism: Actionable Insights is a new product from PerkinElmer Genomics that keys in on a very special list of 59 genes. Variants (a technical term for variations in our DNA that make us all unique) that are identified in this list are known to cause, or increase the risk for, certain medical conditions. These medical conditions are unique for their high penetrance and their actionability.
Actionability sets certain kinds of genetic insights apart
We won’t go into the details of penetrance here (there’s another great blog post for that). But basically, “high penetrance” means that if you have one of these variants, your risk of developing the medical condition associated with it is significantly higher than if you didn’t have the variant. This also means that knowing about this particular aspect of your DNA can be really important for managing your health with your doctor.
The flipside of this coin is the actionability of the medical conditions identified in GenePrism. The concept is actually pretty simple: if a predisposition to a particular medical condition has “high actionability,” that means that knowing about it can have a major impact on your ability to do something about it.
Let’s take the BRCA2 gene, for example, which is one of the genes analyzed by GenePrism. Certain variants of BRCA2 can significantly raise an individual’s risk of breast and ovarian cancers, among other types. Knowing that you carry one of these variants would be considered a highly actionable insight, because you’d be able to talk to your doctor about what steps you might take to reduce your chances of developing an advanced stage cancer—enhanced screening measures, for instance, that could catch the disease earlier when it’s easier to treat.
This is exactly what the “actionable” in GenePrism: Actionable Insights means. It doesn’t just give you the opportunity to learn a little more about yourself through the power of DNA—it actually gives you the chance to get a head start on serious medical conditions that may one day affect you. That’s important. And because these genetic variants are usually inherited, finding out that you carry any of them could also benefit relatives who may not be aware of the genetic risks they may have also inherited.
We’re excited to offer GenePrism because it has the potential to save lives. Many people will not have any of these variants, but many will: in fact, roughly one in 33 people carries a disease-causing variant in one of these genes.
To start learning how these conditions could affect you and your family, click here to find out more about GenePrism: Actionable Insights.