A few months ago, I read a fascinating book by Rebecca Skloot, The Immortal Life of Henrietta Lacks. Skloot's book is required reading for anyone interested in the confluence of genetics, research, medicine, law and ethics.
Like the titular Henrietta, I happen to have some valuable genetic material that researchers are keenly interested in. When I was a patient at CancersRUs, I was regularly and frequently asked to participate in research studies. Most were merely simple questionnaires or requests for interviews about my "feelings". But one doctor asked me to donate my ovaries to his study after I had them removed. This request came from the doctor who was in charge of my ovarian "surveillance" (before I decided to have an oophorectomy, I dutifully showed up for my semi-annual sonogram and CA-125 test) and I have to admit that it that I found it quite bizarre and rather off-putting. The decision to have my ovaries removed was mine and mine alone. I did not care that it was the "standard of care" for BRCA1 carriers like me and that I was already five years past the recommended age (35) beyond which I was expected to surrender my ovaries without a fuss. The last thing I wanted was a doctor treating me who had an ulterior motive for wanting to get his hands on my ovaries beyond saving me from ovarian cancer - namely the advancement of his research agenda.
(In the end, I sought advice and counsel from a different doctor at a different cancer center. She ultimately performed my oophorectomy in April. She has never asked me to participate in any research.)
When I was first asked to participate in studies, I readily agreed. Like many mutants, I believed that further "research" would surely benefit BRCA carriers - that a further understanding of these genetic mutations and how they cause cancer might save future generations from the rock vs. hard place choices that we mutants face. But the request for my ovaries and Henrietta's story got me thinking - what exactly is my family history, blood, organs, and "feelings" being used to study? Is my assumption about "research" necessarily benefiting the patient population being studied correct or naive? Don’t I have the right to know exactly what is being studied and what the objectives of the research are before I sign on as lab rat?
All of this hit home for me at the FORCE conference in June. There was a panel discussion with some of the leading researchers in the BRCA world today. Each one presented papers under the banner "Latest Developments in BRCA Research". What I found so dispiriting was that the dominant themes of the majority of BRCA research being conducted today is (i) refining our understanding of BRCA "penetrance", i.e., which BRCA carriers get which types of cancer at which ages, and (ii) articulating the advantages and disadvantages of prophylactic surgery - how well it works at preventing the relevant cancers and what the negative physical and psychological effects of these surgeries are. What about MY agenda - finding an alternative to prophylactic surgery and ending it once and for all, especially oophorectomy? Perhaps a method of repairing the flawed DNA, reliable ovarian surveillance that isn't a total joke, a cancer vaccine, something, anything. As far as this mutant is concerned, if we are not moving towards the goal of ending prophylactic surgery, then all of the research is a pile of bullshit - who cares whether BRCA1 carriers have a 10% chance of ovarian cancer before age 50 or if it's 15% depending on whether you have a exon 17 deletion or an exon 12 translocation? We're all getting our ovaries yanked at 35 so what the fuck difference does it make? See my point?
One researcher at the conference, for the protection of the innocent I shall call him Dr. Nimrod, gave a lengthy dissertation on the negative lifestyle impacts of premenopausal oophorectomy. There were lots of incomprehensible multi-colored slides and graphs demonstrating that while oophorectomy prevents ovarian cancer and adds years of life expectancy to a BRCA1 carrier, there are many negative side effects, including, but not limited to, vasomotor symptoms (hot flashes), diminished libido and sexual enjoyment, and increased risks of osteoporosis and cardiac disease. Women who take some form of hormone replacement therapy do better in all of these categories than those who do not but they still experience far more of these side effects than women who have not had a premenopausal oophorectomy. Finally, he announced with undisguised glee, "and our next study will be examine the effects on cognition of oophorectomy."
The Q & A session followed. I timidly went up to the mike and asked the question that had been on my mind but had not even been broached by any of the speakers in the two days of presentations that I had sat through thus far: "Doctor, do you ever foresee a time when premenopausal prophylactic oophorectomy is not the primary risk-reducing strategy for BRCA carriers?"
He paused for a moment and looked at me as if I had just sprouted a second head. "Well, what would you replace it with?" he finally replied with more than an hint of irritation. "I mean, given its efficacy, you would only want to replace it with something equally effective. I don't see that happening anytime soon."
So here we have the reputed leading expect in the world on BRCA and his intellectual interests extend no further than documenting and quantifying all of the terrible things that prophylactic surgeries do to the people who are subjected to them. I had the distinct impression that these researchers sit around patting themselves on the back thinking things like "hey, Ms. Mutant, although all of these bad things are going to happen to you, at least you won't get cancer (well, you might get cancer but not breast cancer or ovarian cancer) so shut your ungrateful mouth and stop complaining." There is a striking disconnect between patient experience and research priorities.
Further, I disagree with the premise that the only acceptable replacement for prophylactic oophorectomy would be another strategy that reduced risk equally. There will always be a minority of BRCA carriers, like Masha Gessen, who will not accept premenopausal (or perhaps even postmenopausal) oophorectomy, no matter what. So they're basically fucked, is that it? Wouldn't they benefit from a risk reducing strategy that reliably reduces risk to the some degree but would be more acceptable because it did not carry the same side effects? Wouldn't a lot of women accept lesser risk reduction in exchange for fewer side effects? I might have.
And why did he ask me what "I would replace it with"? Setting aside the condescending sarcasm that the question implies, isn't answering that question supposed to be his job? He's the one who's made a name for himself publishing study after study on BRCA. I'm just the mutant around here, not the professional.
And what exactly is the point of scientifically demonstrating that premenopausal oophorectomy has a negative impact on cognition, if there is no alternative anyway? Are they going to put me on Alzheimer's drugs? Tell me to do more crossword puzzles? And do I really need more bad news about how terrible oophorectomy really is when it all boils down to a choice between that and taking a chance on a spectacularly elevated risk of one of the deadliest forms of cancer?
And that leads us to the bigger question: Do researchers have an obligation to demonstrate that their research has an actual nexus to improving the lives of the population being studied?
For this mutant, the answer to that question is a resounding yes, and thus far, I have declined all requests for research participation.
Until their agenda is my agenda, I'm keeping these genes to myself.