Genetic Counseling: Welcome to the Future

Genetic counseling was a breeze. At my meeting with Dr. M., she gave me some information on the genetic test, including a 23-minute DVD and a Patient Guide. I went through it all the night before so I'd be up to speed. These educational meetings are OK; I'm glad they're taking the time to really make sure I know what's going on. On the same token, though, it is like school (which I haven't been a fan of since about sixth grade) and they tell me a lot of stuff I already know. I just want to go in, learn, ask questions, and get out. My parents, on the other hand, have more questions and don't have the same set of knowledge, so that made things take a little longer. I guess that's OK because I want them to have all their questions answered too, and I appreciate their support and interest.

Genetic testing, to me, is a little creepy futuristic science fictiony. It feels like I'm in a movie about the future, and people know their DNA and life isn't a surprise anymore. That's being overly dramatic, I know, but it does sorta give me the creeps.

Anyway, I'm glad that I learned about genetic testing because it arms me with more information concerning immediate choices, such as surgery, and also information that will impact the rest of my life, like a potential increased likelihood of ovarian cancer.

Usually at a genetic counseling appointment, you map out your family tree and fill in information on cancer history. As the Nurse AW said, my map would just be one circle, representing me, because I was adopted and have no records of any family cancer history. So a family tree wouldn't be helpful in my situation. Which meant we could skip on!

From the Patient Guide:
" Hereditary breast and ovarian cancer syndrome is an inherited condition that causes an increased risk for ovarian cancer and early onset breast cancer (often before age 50). The vast majority of hereditary breast and ovarian cancer is due to an alteration of mutation in either the BRCA1 or BRCA2 genes. These mutations can be inherited from either your mother or father."

The guide shows a little table explaining some risk percentages for BRCA mutation carriers. Someone with a mutation has a 56-87% chance of breast cancer, compared to just a 7% chance for the general population. Someone with a mutation has a 27-44% chance of getting ovarian cancer, compared to less than 2% chance of the general population. And someone with a mutation has a 48-64% to get a secondary primary breast cancer (a completely new breast cancer and not a recurrence), but the general population's risk is only 2-11%.

Ways to manage the knowledge that you have a mutation involves increased surveillance, with extra exams and imaging, chemoprevention, meaning using drugs to reduce risk (which doesn't really apply to me, due to my specific cancer being ER/PR-), and preventive surgery, meaning mastectomy (removal of the breast) or oophorectomy (removal of the ovary). All these things reduce risk.

There are three types of tests, and depending on how much you know about your family, you can choose between a Comprehensive BRACAnalysis (when you don't know anything about your family and need the full sequence examined), Single Site BRACAnalysis (when someone in your family has already had the test performed and knows where the mutation is) or Multisite BRACAnalysis (when you're of Ashkenazi Jewish ancestry... whatever that's about).

There are three types of results you can get, which is weird because you'd think it would just be YES or NO. Unfortunately there's a MAYBE. If your result is positive, then you have an increased risk of cancer and medical management should be based on recommendations for mutation carriers. If it's negative and and a mutation has previously been identified in the family, then you have no increased cancer risk and fall under the cancer screening recommendations for the general public. If it's negative and no mutation has previously been identified in the family, then your chance of hereditary breast and ovarian cancer is significantly reduced and medical management should be based on personal and family history. BUT, if your result is "uncertain variant," it means they didn't find the specific mutations we know about, but there was something weird on your genes. That indicates that your cancer risk is not fully defined, and medical management should be based on personal and family history. This is all sorta BLAH BLAH BLAH for me because I already know I have cancer, so my risk can be called 100%. But it would be good to know my risk level for ovarian cancer. Cuz I don't want that-- cancer sucks. Carrie hates cancer.

If you have a mutation, your chance to pass it on to your children is 50%.

Some of you may be wondering if finding out about your genetic makeup will affect insurance stuff. Apparently laws have been passed so that you can't be discriminated against based on genetic information, and nobody has had to take anybody to court about it. So that's good.

The test is super expensive, somewhere over $3,000. There's only one lab that performs the test, so they control all the marbles. I had an issue about that, because all the informational and education tools were created by this lab, Myriad Genetic Laboratories, Inc. The information seemed biased; there were no real down sides to testing in the information. Anyway. The nurse told me about a grant that's out there that would certainly cover the cost of testing for me, since my income isn't very much. My parents want to pay for all this, anyway; I think it makes them feel like they're really helping (which they are!) and they don't want me to have to spend all my hard-earned and harder-saved pennies on being sick. Either way, it turned out that my insurance would pay for most of it, leaving me with $424 to pay. Not bad.

So I went ahead and did it. The blood was drawn and sent. On Tuesday, August 5, someone called to tell me how much I would have to pay, and I agreed and gave them the go ahead to do the test. The woman on the phone said I'd have my results in two weeks or less. So now all I have to do is wait and hope for a negative result. To all my friends and other readers, please pray for a negative result!

For more information on the test, or to see the pretty diagrams, click here.