The family tree

Yesterday, I found myself in the Hugh Kaul Center for Human Genetics at UAB, some ten years after I first met with a genetic counselor there to discuss the possibility of BRCA1 and BRCA2 testing. At that time, following on the heels of my second diagnosis of breast cancer, Bruce and I listened to the presentation by the counselor regarding risks, testing procedures, and potential outcomes before deciding not to move forward with the process at that time.

Our decision was based on several factors:
* the limited, largely ambiguous, knowledge gained through BRCA testing (positive, maybe, or negative (maybe))
* the out-of-pocket cost ($3600 sent directly to Myriad Genetics, the only organization at the time with a patent on BRCA testing, a patent overruled in 2010 by the Supreme Court)
* the ages of our girls, just 6 and 3 at that time, seemingly years away from the information we might glean from the test to have any direct impact on their lives

A lot has changed since then.

While it’s still possible to receive a result that isn’t necessarily definitive, more is known today about several of the “variants” that used to fall under the umbrella of “we don’t really know what that particular mutation means.” The sample I provided yesterday will be tested against a panel of 18 mutations (from high risk to low risk) that might provide some answers about my two diagnoses of breast cancer at such a young age. More importantly, the information might give my girls a head start on making decisions in their own lives.

The price tag for gathering this information is also much lower than ten years ago. The $3600 quote is now less than $100, and the testing is done at a lab in nearby Atlanta rather than sent all the way to Myriad, headquartered in Salt Lake City.

The most significant difference I felt as I sat across the table from a genetic counselor yesterday, though, was something much closer to home. In a heartbeat, my girls have grown up. Celia will turn 17 in less than two weeks, and guidelines suggest she should be tested at 18 for BRCA or another mutation increasing the risk of breast cancer if I test positive. Regardless, she’ll need to begin clinical screenings at age 20.

The wait for information about some of what lurks in my family tree is coming to an end.


Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s