Angelina Jolie told the story yesterday of her decision to have her ovaries and fallopian tubes surgically removed to reduce the risk of ovarian cancer due to the faulty BRCA1 gene she was born with. This follows a similar decision to undergo a double mastectomy in 2013 to reduce the even higher risk of breast cancer the mutant BRCA1 gene bestows.
As a human being, its hard not to feel enormous sympathy with her for facing such a decision – a thoroughly 21st Century decision that no-one ever had to face until the advent of molecular medicine. For centuries humanity has had to face the many adversities of life head on, but for the most part without much forewarning and even less hope of intervention.
The knowledge that certain mutations in this BRCA1 gene confer such high risks of cancer (as much as 87% chance over a lifetime for breast cancer and 50% for ovarian cancer) has the potential to be empowering or frightening (and perhaps both at the same time) in equal measure.
The interventions are hugely invasive. The surgeries themselves are major, and come with short-term risks. The hormonal imbalances that will result can change not only health but also the person. But perhaps hardest of all to quantify is the psychological and emotional impact.
In addition to sympathy for having to face such a decision, Ms Jolie also deserves admiration for her self-awareness and the clarity of her thinking that has allowed her to make such a clear choice – the right choice uniquely for her. Not everyone is blessed with such gifts.
That matters because we – all of us – are going to face these kind of decisions much more frequently in the future.
We hear from all sides about the benefits of personalized medicine – the product of refined molecular diagnostics that offer a glimpse into the future health of the individual. But Ms Jolie’s experience of personalized medicine highlights some of the challenges that also remain.
The biggest hurdle seems to be one of education. The default state of humans is to be pretty bad at understanding risks – and the output of all precision medicine algorithms is precisely that: an estimate of individual risk. While science can make the estimate more accurate, what it cannot provide is the calibration of what that risk estimate means to the individual. A 50% risk of ovarian cancer over a lifetime sounds, on the face of it, like a death sentence. But it needs some context. First and most importantly we have to remember we are all born with a death sentence. The only questions are when and how. Something like 33% of everyone alive today will suffer cancer in their lifetime.
Of course, BRCA1 mutations carry a …
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