What does it mean when Genome Explorer says a variant is Pathogenic?
Genome Explorer is a unique application. Unlike our other DNA analysis apps that perform interpretation and provide a report, this app does not provide interpretation. Instead, it provides a way to view and search through your DNA data, which helps facilitate manual interpretation.
If you see the word ‘Pathogenic’, this may not apply to your DNA. Instead, the word ‘Pathogenic’ and ‘Benign’ apply to the variant and whether research has determined that variant to be pathogenic or benign. This is standard nomenclature used by the NIH/NCBI. In Genome Explorer, all of the columns are identical for all users except for “Your Data”, so certain variants will always be considered “Pathogenic” for all users.
For example, it a specific variant (a row in Genome Explorer) is known to be associated with an increased risk of blood clots, Genome Explorer for this rsid will always indicate ‘Pathogenic’ for everyone regardless of whether that person’s genetic data indicates they have a risk of blood clots.
This is because Genome Explorer does not provide any interpretation, it only lists that the specific variant is known to be associated with blood clots. But it doesn’t draw any conclusions between your DNA data and whether you have or do not have an increased risk of blood clots.
The FAQ section of Genome Explorer helps to clarify further. In particular, these two entries:
If I see a disease listed, does it mean I’m at risk for that disease?
The word ‘Pathogenic’ appears in the ‘Interpretation’ column of my Genome Explorer. Does this mean I’m at risk for the condition?
For a clear report that contains already-interpreted information, take a look at the DNA analysis apps in the ‘Health’ category as well as the Nutrition, Fitness, Lifestyle, Children and Beauty categories.
For example, the Prevent Breast Cancer DNA analysis app provides interpretation so it will indicate whether a pathogenic specific variant may impact your health.