Last week I met with a genetic counselor. Here’s why: My family history presents several red flags that may warrant genetic testing for hereditary cancer.
1. Cancer diagnosed at a younger age than expected for the general population (</= 50 for most cancers). My mother was diagnosed with breast cancer at 33-years-old, and my father was diagnosed with colon cancer at age 45.
2. Cancer diagnosed across generations and in multiple generations within a family. Cancer is present in several branches of my family tree.
3. Individual with multiple primary cancers (either in paired organs or in different organs). My mother was also diagnosed with colon cancer at age 46.
Taking all of this into account, I made the decision to go ahead and have genetic testing done. Honestly, in my gut I don’t believe I have a hereditary predisposition to developing cancer; I think my family has just had a stroke of incredibly bad luck. Shit happens, you know? Still, I’d like to rule out gene mutations from my general lifetime risk if I can.
My session with the genetic counselor was pretty straight-forward; she reviewed my family history and assessed my overall risk. She evaluated to the best of her ability how I might cope with a positive test result and explained the immediate and long-term decisions I’d have to make regarding screening and/or prophylactic measures.
It’s a lot to process, especially as a young woman who doesn’t know when — or even if — she’ll have kids listening to an almost casual discussion about possibly having to remove my ovaries by the time I’m 35.
But I’m getting ahead of myself.
I’m having done what’s called a sequencing panel that simultaneously analyzes up to 28 genes (including BRCA 1 and 2 and Lynch Syndrome) that contribute to increased risk for breast, colon, ovarian, uterine, and other cancers. I won’t have the results for another 10-12 weeks.
Because this particular test includes a number of genes of which little is known, my counselor expressed concern in the possibility of my being positive for one of these genes. A lot is known about BRCA; a patient who tests positive for BRCA is screened in clearly defined management guidelines. There’s some sense of security in that. Discovering you carry of a gene mutation that has been associated with brain cancer or leukemia, cancers for which there isn’t routine screening, can be unsettling.
For me, genetic counseling is an opportunity to be proactive rather than reactive. Regardless of whether or not I carry BRCA or Lynch Syndrome, I’ll still begin early cancer screenings. Good or bad, I see my genetic makeup as providing my physicians with better insight into what preventive measures to prescribe.
Enough speculating. We’ll see what the results show.
Have you had (or considered having) genetic testing?
Other features of a person’s personal or family medical history that may suggest a hereditary cancer syndrome can be found here.
If you’re considering genetic testing, check out this list of things to consider.