The women used the information they had, and what science knew at the time, to try and make an educated decision to protect their health. More information has since been learned stating that they may not have needed to be as extreme as they were, but ultimately they've still protected their health.
Precisely. This shouldn't be taken as an indictment against genetic testing and acting on those results. Only that preventative actions and their consequences should be balanced against the uncertainty present in this fairly new field.
How aware of the uncertainty were those “experts” who recommended they have surgery? Was that uncertainty effectively communicated to this family? Surgery carries risk and costs as well. And it’s becoming more likely that the risk assumed by these women might have been needless. Is there no accountability to be assigned at all because all is well that ends well?
Throughout my life, and ESPECIALLY in medicine, there has been constant change in understanding but never a shortage of confidence by “experts” assuring me we got it right this time.
I'd bet the surgery was not recommended for some of them. BRCA isn't a death sentence just because you've tested positive (assuming you haven't presented with any symptoms). If you're in your 20s or 30s the "experts" usually tell you to stay proactive on monitoring/medical appointments (self breast exams, ultrasounds of ovaries/uterus, etc) until you're done having children. Once you're done with having children you should consider a double mastectomy and possible hysterectomy.
But we live in the age of Google. Our ability to search the Internet tends to result in patients making horrific decisions. My wife is a breast cancer surgeon and has a late 20s BRCA patient that presented with a significant breast mass six months ago. She refused any of the advised treatments because she was breast feeding at the time and stated to my wife, with a straight face, she would simply cut out sugar because she read that helps. Obviously my wife told her otherwise. Same lady came back in recently to finally seek treatment and she has a 30cm mass now. She's not even a candidate for surgery anymore because you wouldn't be able to close the wound post-op. But hey, imagine what it would have been like if she had kept eating sugar, right? Silly "experts".
Hysterectomy makes much more sense than double mastectomy. Breast cancer is detectable and in most cases treatable, whereas ovarian cancer can't really be detected until it's already fatal.
Mastectomy is the preferred treatment for a lot of breast cancers, particularly BRCA. Otherwise the woman or man is likely to just be back in a few years for treatment when they develop the cancer in a different spot.
Again, none of that is an indictment against preventative medicine base on genetic testing. It's an argument that medical professionals involved in it should be knowledgeable and up front about balancing risks.
Was it really the experts that suggested surgery, or was it the patients that based on the genetic testing seeked out surgery? (I'm actually asking, as I'm blocked by the WSJ paywall.)
I'd beg to differ. There are armies of marketing drones out there trying to convince people of the necessity of genetic testing when it still carries so much uncertainty. Personally I find it very concerning that submitting samples to each of the firms returns dramatically different results
This retired physician (neurosurgical anesthesiologist) agrees wholeheartedly with you re: the radically different results the same patient often receives from different companies. Better not to test at all?
The different results pertain to their (very speculative) ancestry models. I have not seen any incident where testing services disagreed on specific genetic markers, and that is what the medical indicators are based off of. You have to separate the ancestry guessing from the medical research, which is not done by the testing companies.
But what you're saying is not that preventative medicine based on genetic testing is bad; You're saying genetic testing is over hyped by the testing companies. That criticism doesn't argue against testing, it argues for medical practitioners to be well informed and to inform patients about balancing risks of treatment.
As for differing results, I've never heard of firms disagreeing about particular genetic markers. What I've seen are ill-defined correlation models that try to tie them back to geographical regions when that's just not a great idea at all. You have to separate the two: The ancestry stuff is much closer to pseudo science than the medical.
You seem to be suggesting that we can't account for the large amount of uncertainty inherent in complex systems. That the only thing that exists is "our best guess today". I think that's crazy. We absolutely can account for uncertainty. That's what "first, do no harm" is supposed to be about...
What I'm suggesting is that we not read articles like this and decide that it's best to ignore science because it isn't perfect. It's possible (probable?) not all of the women in the article made the right choice. But the article does not present enough evidence for us to make that conclusion or explain why. I noticed the article actually fails to mention what any doctor recommended. It just states they tested positive for BRCA and then opted for every surgery they could. Not to be ignored but a lot of these decisions were around the time Angeline Jolie had her BRCA incident and there was a lot of tv/internet fear mongering on the topic.
What this (and many other situations) indicates is an attitude of humility that Science for any given study may be incomplete is far more appropriate than the arrogance that Science is automatically correct and unquestionable. True Science is always open to re-examination, and is never “settled”.
They clearly overreacted, probably because of bad medical advice. Science is self correcting is not an excuse to give overconfident bad advice.
The first info was that she had up to an 84% risk of getting breast cancer by age 70. How big where the error bars? Perhaps it was 84% ± 83% but it was presented as it was 84% ± 1%.
Why did they rush to get operated?
Why did the sister not wait 2 or 3 years to have another children? It's not a minor thing. She could freeze eggs just in case.
Why did she not wait 2 or 3 years so the toddler was older? Raising small children is very difficult if you can't pick them up.
Why not something less invasive like regular mamographies?
In these cases it is very important to get a second and third opinion before a major irreversible surgery.
Although I don’t fully agree with that implication, the statistics in the article seem to support it: a very small number of people actually took such dramatic preventative steps over a 22 year period.
