Preventing cancer before it ever begins: life with the BRAC gene
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What does it mean to be a ‘previvor’ and why does it matter?
Now imagine being told that you carry a hereditary gene that means you have a much higher risk of developing breast cancer but there's no way of knowing if or when that risk will become a reality. What do you do with that information? Do you undergo more frequent screening? Do you consider preventative surgery? And how do you live with the uncertainty of knowing that cancer may be part of your future? People living with that reality are known as previvors. Dr. Marlea Dean-Cruzell is a professor, researcher and a previvor herself. And I'm also joined by Dr. Clare Kilty, head of research at the Irish Cancer Society. You're both very welcome. Thanks very much for joining us. Marlea, first of all, what do we mean by previvor?
Yeah, it's a great question. Thank you for having me. A previvor is somebody who is a survivor of a predisposition to a disease such as hereditary cancer. So we have tested positive for a genetic alteration. We know there's an increased risk for a variety of hereditary cancers, but we have not been diagnosed with cancer yet or could
be. How common is it for people to be in that position?
That's a great question. So about 5% to 10% of cancers are due to some type of genetic alteration. Most people who fall into the previvor context are not aware that they could be at risk.
Because they haven't been identified.
Yes.
But if you have, as you have been identified, I mean, that is a weight on your shoulders, I presume.
It is. It's a difficult thing to live with. Yes, yes. I mean, many pre-vivors, we have grown up in households where multiple family members have been diagnosed with cancer. My mom was 38 when she was diagnosed and I was eight years old. So I kind of assumed I would get breast cancer at some point in my life. And so it's Hearing that I had tested positive for a genetic alteration was not a surprise, but it has really fueled my research in terms of thinking about how do you live with hereditary cancer risk over time.
And what's the answer?
The quick answer is I've learned to embrace uncertainty. So we have uncertain futures. We don't know what's coming. But even if you test positive, for example, I have the BRCA2. I'm a BRCA2 carrier. Even if you test positive, it doesn't mean you're going to get cancer.
How common are hereditary cancer genes like BRCA in the population?
It
just means your risk is higher.
Correct. It gives you information and power that then enables you to either undergo risk reducing surgery or you can also screen. So you're actively looking for cancer so you can detect it early.
OK, Claire, in terms of people in Ireland, what are the options for people living here in that kind of a situation?
I suppose from the Irish perspective, you know, the issue Marlea speaks about aren't just, I suppose, US issues. They're common across the board. For people in Ireland, I suppose if somebody was worried about having a family history of having hereditary cancer risk, they would go to their GP. the GP would look at their family risk and further refer them. And if they meet the clinical criteria, then they'd be referred into a hospital cancer genetic service. There's only two of those in the country, Children's Health Ireland and St. James's Hospital at the moment. And then you're waiting for your pre-test counselling. That's where you see a genetic counsellor who will go through and have a consult with you.
And if you decide to go through with the testing, you would then sign consents and then you would go through with the testing. I suppose the problem in Ireland is our waning list access that pre-testing by a genetic counsellor is very long. So it's in some cases up to three years. We currently have 3000 people on the waning list for those cancer genetic tests in Ireland. So, you know, resourcing and the demand for that service is increasing in Ireland.
So those 3,000 people have a family history that they know they may be more susceptible to falling ill with cancer or developing cancer. And they're going to have to wait for up to three years to get an answer?
Yeah. Now, we do have a new strategy that was published in the last number of years that have acknowledged the issues in Ireland and are working towards them.
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