Genetic testing: Step 1

On August 2, I arrived at the Stanford Women's Cancer Center for my genetic consultation. I wasn't feeling any stress as I arrived (other than the stress of being late, as I didn't factor in the construction around the hospital to my commute time). As I stood in line, waiting to check in, I looked at the women around me, my fellow patients. Many looked like me, in good health - you'd never know we have some mutant cells. One woman was probably in her mid-30's and held a baby that couldn't have been more than two weeks old. Another woman was probably younger than she appeared, with her bald head, walker, and a huge smile. As I approached the receptionist, I suddenly felt overwhelmed, and burst into tears. WTF?

A few minutes later when the male nurse escorted me to the examination room to take my vitals, he could see that I was upset. He said he wasn't going to take my blood pressure, as he knew it would be falsely elevated.

The meeting itself went well, and I calmed down as I talked to the three genetic consultants. We spoke for 45 minutes about chromosomes, genes, autosomal dominant inheritance and cancer biology, as well as my family history of cancer.

They are recommending that I get tested for not only BRCA 1/2, but TP53, CDH1, STK11 and PTEN. This is known as a BRCAPlus panel. Each of these genes corresponds to a hereditary cancer syndrome that is know to cause identifiable clinical features and family histories and confers a significant lifetime risk for breast cancer.

Because my family is so small, there's not much to go on, so despite the lack of breast cancer (except my great-grandmother - my maternal grandfather's mother - she died of breast cancer in her 40's) they are strongly recommending that I move forward with testing.

I am in agreement, but we must first jump through the HMO hoops, and submit the recommendation my insurance to decline or accept. Either way, I will get the testing. Now, I await a phone call so that I can schedule the blood work.

Just an interesting note - I asked if Angelina Jolie's announcement had made an impact on genetic testing at Stanford. And, indeed it has. Ladies, if you want to get tested, you can't get an appointment until January. And here I thought booking in June for an August appointment seemed a long wait!