One Christmas, I thought it would be fun to try out at-home DNA testing for my then-fiance and for myself. I recall sitting side by side on our overstuffed couch, spitting into plastic test tubes and laughing at the slobbery mess we were making.
After about a month of waiting, the results were in. We again plopped ourselves down on the couch with our laptop and logged in to glimpse what was in our stars.
My fiance’s testing was rather uninteresting (not that we were complaining) but we learned that some of his Bulgarian ancestors were Italian.
When it came to be my turn, my heart started racing. I thought, “Wow, does this happen to all of my patients? Do they feel weak in the knees at this moment?” As my luck would have it, I had inherited one gene with one working copy and one non-working copy.
I’m a carrier of GJB2?! (Technically, I have a variant that renders one copy of this gene non-working).
I sat, stunned, staring at the screen.
I knew what the implications were. I knew that while I myself would never have deafness due to this mutation, my future kids could. If my fiance was also a carrier. According to his test result, he is not a carrier but this testing was from 23andMe, and the lab’s clinical reporting has since been shut down by the FDA for many issues. Can we trust he’s not a carrier? How accurate were these results? Who could I turn to for follow up testing?
I first contacted my PCP who was overly taxed with acute cases, and made it clear following up with genetic testing not a top priority. I wasn’t yet pregnant and anyway wasn’t genetics [my] specialty? My OB/Gyn was willing to meet with me, but he didn’t feel comfortable running the test himself. I kept shaking my head, thinking, “Why is access to basic genetics care so difficult?” Eventually I found an obstetrician that would run a multi-gene panel that included GJB2. My obstetrician was really lovely, but she felt uncomfortable interpreting the test result, and left me to figure out follow up care. Should we have my now-husband tested? What would we do with the results? Should we inform our family members, or keep it private? We sat down together and talked for a long while, having to make some big decisions on our own. It left me wondering what a patient without my professional training would have done.
The lesson I learned from being a genetics patient was that persistence pays. Genetics is a specialized field and there are few trained professionals available to help. Sometimes takes a little extra time and plenty of determination to find the right provider.
My aim is to have Vibrant Gene provide access to genetics care for all-comers. Without knowing my carrier status, I may have been facing a horror story of having children with debilitating conditions–diseases you wouldn’t wish on your worst enemy. It’s time folks are able to utilize the latest genetic technology to its fullest potential.
With a Vibrant Gene consultation, you will feel knowledgeable, empowered and able to make smart decisions about your genetic health.
We look forward to speaking with you!
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