Breast Cancer | Real Stories
Jenna’s story: Proactive genetic testing
How genetic testing helped this patient reduce her risk of breast cancer
Without Invitae’s cancer screening, Jenna would not have learned she has an increased risk of breast cancer. After receiving her results, she started getting mammograms seven years ahead of schedule.
Read the full transcript here:
INTERVIEWER: Why don’t we start off with you telling us who you are?
JENNA: My name is Jenna, and I am a genetic counselor at Invitae. When I started working at Invitae, they were offering a proactive health screen for employees. I’ve always been interested in doing genetic testing, I just never really had a medical reason. Like, I don’t have a family history that I was concerned about. But as a scientist, I’m interested in finding out if I have anything. I sent my sample back to Invitae, and they did the genetic testing and sent me an email when the results were ready.
When I opened it, I was surprised to see that it was positive for a mutation in the CHECK2 gene. Instead of having a risk of about 7% to 12%, I have about a 40% chance of getting breast cancer. I spoke with a genetic counselor. I’m doing the recommended surveillance guidelines, and I’m going to be getting yearly mammograms starting now, most people don’t start until they’re older.
Having this test and knowing that I have this mutation allows me to be proactive about my screening because early detection has been proven to increase survival. I would urge everybody to consider doing genetic testing. Even if you don’t have a family history of breast cancer, you could still have a mutation and it’s worth doing the genetic test to find out.
