Welcome to Your Own Genome! Today, we're diving into the world of genetic test results. Understanding these results can seem like a daunting task, but fear not – we're here to help you navigate through it all.
The ABCs of Genetic Test Results
Genetic testing results often come with terms that might sound like a foreign language. Let's break down three common ones: Pathogenic, Likely Pathogenic, and Variants of Unknown Significance (VUS).
Pathogenic:
A 'Pathogenic' variant is a change in the DNA sequence that has been proven to cause a disease or disorder. If you have a pathogenic variant, it means that you carry a gene mutation linked to a specific medical condition.
For example, the BRCA1 and BRCA2 genes are well-known for their association with increased risks of breast and ovarian cancers. A pathogenic variant in one of these genes significantly increases an individual's chances of developing these diseases.
Likely Pathogenic:
A 'Likely Pathogenic' variant is a change in the DNA sequence that is strongly suspected to cause a disease or disorder, but further evidence is needed for definitive confirmation. These variants are often associated with a significant risk of developing a specific condition.
Variants of Unknown Significance (VUS):
A 'Variant of Unknown Significance' (VUS) is a change in the DNA sequence that hasn't been definitively linked to any known medical condition. These variants can be tricky, as they may or may not pose a risk for disease.
It's important to note that having a VUS does not automatically mean you will develop a specific disease. Many people carry VUS without ever experiencing related health issues.
What Now?
If you receive genetic test results, it's essential to discuss them with your healthcare provider. They can help you understand the implications of each variant and guide you on any necessary follow-up actions.
Remember, receiving a genetic test result is just the first step in understanding your genetic makeup. It's important to approach these results with patience and an open dialogue with your healthcare team.
We hope this article helps demystify some of the terms you may encounter when reviewing your genetic test results. Stay tuned for more articles on Your Own Genome, where we continue to help you understand your genome better.