Alberta Cancer Foundation

Insiders' take on genetic counselling

Deepti Babu is a certified genetic counsellor who has worked with several extended families to discuss a history of cancer. She talks with patients about cancer genetics, the pros and cons of genetic testing, and what they can do with the information they receive. Some patients choose to beef up their insurance coverage before they get tested. Depending on their test results, some might opt for preventive surgeries; others might opt for vigilant monitoring. No matter how many times she has counselled patients for this and any other reason, she still feels a moment of dread or elation when their test results come in. It’s nothing compared to the rollercoaster a patients feels – just ask Debbie Whitfield, who saw Deepti for genetic counselling to learn more about her risk of cancer. While no two counselling sessions are the same, here is a look at Debbie and Deepti’s story.

DEEPTI Our relationship began the moment your chart landed on my desk, Debbie, after your doctor’s fax arrived at my office with your genetic counselling referral.

DEBBIE You got my file due to my family history. My maternal grandmother died of breast cancer at the young age of 45 years. I’m now 51 years old, married and have two daughters, 23 and 25. I had long been aware that the chances of getting breast cancer might be higher for my mother and possibly for me – and my daughters.

In the mid-2000s doctors diagnosed my maternal aunt with breast cancer; she was in her mid-60s at the time. Of course I became more concerned about my possibilities of developing breast cancer.

DEEPTI I know your family pretty well. Your family carries a legacy of breast cancer. One of your relatives came to our clinic some time ago to discuss genetic testing. Since then, I’ve met many of your family members to help them through their own decisions about genetic testing.

DEBBIE In October, 2007, my husband, two daughters and I moved from Edmonton to a farm in Fawcett, Alberta. It was a dream we had – to enjoy some country living. A month later, I received a letter from my maternal aunt, who’d been diagnosed with breast cancer, saying that she’d gone ahead with genetic testing at the University of Alberta Hospital. She got the results saying that she had tested positive for the BRCA1 mutation, the presence of which indicates a higher risk for breast and ovarian cancer. She had sent all of us family members information about the test and who to speak to if we wanted to get testing, too.

DEEPTI I had already given several people in your family unfortunate news – they had inherited the gene mutation that predisposed them to develop breast and ovarian cancer. The average lifetime risk for a woman to develop breast cancer is about 11 to 12 per cent; for ovarian cancer it’s one to two percent. If a woman carries the BRCA1 mutation, that lifetime risk jumps to as high as 57 per cent for breast cancer and 40 per cent for ovarian cancer. Men who carry BRCA1 mutations also have a higher lifetime risk to develop prostate cancer and breast cancer.

DEBBIE I thought about getting tested but I was enjoying life in the country – so I procrastinated. My aunt’s daughter was tested and the results were negative but my aunt’s son tested positive. My cousin called me and she gave me the name of a genetic counsellor – that’s you, Deepti – who I could contact directly. I thought it was great that we didn’t need a referral. But I continued to procrastinate.

Three years later, in August, 2010, I was diagnosed with high blood pressure and high cholesterol. I’d never had any other health issues. It made me think a little harder about getting the genetic testing. My mother was never tested for the BRCA1 mutation. I decided to step up to the plate and get tested, for the sake of our two daughters. That’s when you contacted me, Deepti, identifying yourself as the genetic counsellor who was going to see me.

DEEPTI I called you to introduce myself, to learn about you and your medical history, and offer a genetic counselling appointment. I found where you fit into the family tree, and honestly hoped your news would be different if you decided to have genetic testing. Just like many of your family members whom I had met, you were easy to talk to, eager to learn about your family’s genetics, and seemed practical in your approach to decision-making.

As our appointment approached, I looked forward to it but I had questions. What would you be like? Could I answer your questions? Would I be helpful to you?

DEBBIE I don’t like driving to the city, so in January, 2012 I got the blood work done here in Westlock. I spoke with you, Deepti, you were kind enough to set up a teleconference in March so I didn’t have to go to Edmonton.

That morning I found the building where the teleconference was being held. Someone led me to a large conference room where I waited for the telehealth screen in front of me to come on. I kind of felt important, like I was heading up a meeting, except I was the only one there. The screen came to life and I met you. We talked about how I wanted to know if I had a BRCA1 mutation and why. I wanted to know more for my daughters’ sakes than mine as they are still so young. I understood that if I carried the mutation it would mean that my mother did, too. If I did not carry it, it was still possible that my mother and brother might.

DEEPTI Sitting in the counselling room at the genetics clinic on the U of A Hospital campus, I looked at your face on the screen in front of me, and we talked. You were quite informed, and I learned more about your rich family history. I was relieved you were grateful that a motivated family member told you about this health issue. Not everyone feels this way, and that can make it difficult to have an open conversation.

You first learned of the gene mutation in your family a few years back, so you’d thought about the option of genetic testing. We talked in detail about it, and explored how you’d feel if you received good or bad news.

After our hour-long appointment, me in the counselling room and and you in that big meeting room in Westlock, you decided to move ahead with genetic testing. I mentally crossed my fingers and toes for good news – I always do. I thought of your daughters, as your test result would impact them. And we waited.

DEBBIE I was glad I met with you and felt good going home that day, knowing that I would finally get the results after years of procrastinating.

DEEPTI Several weeks later, your test results arrived. Before I looked in the results section of the report, I closed my eyes and sent a wish to whatever higher power could possibly control these things. “Let it be good news. I don’t want this family to get more bad news. And I don’t want to be the one to give it to them.”

DEBBIE In June, 2012, you called me and gave me the news. I tested negative for the BRCA1 mutation. I was ecstatic and immediately told my husband and called both my girls. They were thrilled. I called my mother and told her the news and mentioned that she and my brother should think about testing. I also called my aunt who, by the way, is doing very well. I wanted to thank her for sharing her information with her extended family. I am glad I tested negative but if I had tested positive, then my daughters could take early precautionary measures.

DEEPTI There it was: “No mutation detected.” I couldn’t call you fast enough. Trying not to let my voice give away my excitement, I offered you an appointment to go over your results. You preferred to hear them right then, over the phone.

As for my silent, closed-eyed wishes – I know, I know. It makes no logical sense. “No one has control over these things. No one’s keeping track ‘upstairs.’ The genetic lottery is random, even though it doesn’t always seem so.” I say these things to families every day. But I always send that one final wish.

DEBBIE It’s a fact of life that people hate bad news and some people would rather not know. A small part of me is also like that – I procrastinated getting testing done for five years – but the bigger part of me needed to know. I wasn’t the only one affected by this; our daughters have not have inherited the BRCA1 mutation. Their breast and ovarian cancer risk is the same as most women’s and the gene mutation will not carry on from them.

DEEPTI The best part came next: you thanked me for helping your family. You made it easy, and it isn’t always easy. I thank you for that.

DEBBIE I also thanked my aunt and cousin for finding you, Deepti, and making this very easy for our family. My only regret is waiting so long to get the testing done. Now it’s back to enjoying country living without having to wonder.