Precision medicine: genetic data doesn’t mean shit if you can’t afford to use it.

Image: US-POLITICS-HEALTH-OBAMA
Obama just unveiled an ambitious “precision medicine” plan and the White House is diving into precision medicine head first: epatients! genomics! big data! sexy sexy science! I guess it’s no surprise that Obama would want to jump on that bandwagon, but I’m skeptical as ever.

I’m not a fan of the idea that more technology and more bureaucracy is inherently better. BRCA+ women often get held up as examples of the benefits of personalized medicine. However, genetic knowledge doesn’t automatically give individuals the tools they need to manage their risk. In 2015, the best HBOC women can do to prevent cancer is choose among variations of the “slash/burn/poison” methods of yesteryear. While BRCA mutations have been fairly well studied for over twenty-five years, women’s options for preventing hereditary cancers have not improved much.

Even within the limits of the surveillance, chemoprevention, and risk-reducing surgery triad, many women cannot afford genetic testing or risk management. Multiple members of my own family have been unable to get tested for our particular BRCA mutation because they can’t afford health insurance, not even Obamacare, despite being employed. If my relatives scrounged together enough money to pay for genetic testing out of pocket, then they certainly wouldn’t be able to afford risk management in the wake of deleterious test results.

There are a lot of systemic problems with healthcare in the United States that need to be resolved now. Many Americans still don’t have affordable health insurance, paid paternity leave, access to short and long term disability, etc.–basic human rights that are taken for granted in Europe. Something as quotidian as childbirth often sends Americans into massive debt, never mind a major heath issue like a cancer diagnosis or a chronic illness.

At the moment, I am still suffering the financial fallout of choosing prophylactic mastectomy. And “suffering” is not an exaggeration here. I’ll be paying off the medical debts I incurred with PBM for at least two years, even though I have a good job and relatively good health insurance. In a lot of ways, I’m lucky that I could take on and manage this debt: I had access to exceptional doctors and an overwhelmingly positive experience. It’s a pretty sad state of affairs when medical debt is a privilege.

To me, these socioeconomic issues are far more pressing than personalized medicine. Massive reforms are long overdue and socioeconomic inequality in the United States is getting worse and worse. What good is genomic data if patients don’t have the socioeconomic means to put it to use?

Obama’s precision medicine plan reminds me of George W. Bush’s equally ambitious global AIDS plan, another public health initiative that was unveiled towards the end of a second presidential term. In theory, Bush Junior’s AIDS initiative sounded fantastic: billions of dollars directed at fighting AIDS in Africa, the massive distribution of AIDS drugs, new condom promotion programs, etc. In practice, however, Bush’s AIDS initiative was rushed and poorly implemented. The phrase “pissing into the wind” comes to mind.

Precision medicine is an enormous undertaking that requires careful planning. I don’t have much faith in the ability of government bureaucracies to efficiently plan and execute something so socioeconomically and ethically fraught. If Obama’s precision medicine plan is successful–and it will be a long time before we can adequately judge whether or not it is–then there are still massive hurdles to improving conditions for patients on the ground.

Maybe Obama’s precision medicine is the first step towards giving people better options. For now, we should be wary of getting caught up in the hype of precision medicine. Yes, it could lead to some great things for the HBOC community, but we need to recognize the immense challenges it poses.

If anything good is going to come out of this initiative, then BRCA+ advocates are going to have to stay on their toes, push hard for patient input, and lobby for improvements in healthcare access–that means, vehemently supporting universal healthcare, paid paternity leave, and other socioeconomic improvements¬† to healthcare access for the poor, the working class, and the shrinking middle class.

After all, genetic data doesn’t mean shit if you can’t afford to use it.

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Oophorectomy Sucks

I get it: risk-reducing bilateral salpingo-oophorectomy (RRBSO) is the only proven way to protect high risk women from ovarian cancer, a disease that is particularly hard to detect, psychologically and physically devastating, and usually deadly. There are currently no accurate ways to screen for it in symptomless women and by the time symptoms do arise the cancer has almost always already spread beyond the pelvis and it is too late to save the patient’s life. Moreover, the only way to make a diagnosis for ovarian cancer in women with symptoms is surgery, which is at best unpleasant (as I can attest) and at worse can lead to life-threatening complications (as a friend of mine who nearly died during her seemingly routine RRBSO can attest). RRBSO is the only scientifically proven way to prevent ovarian cancer and, as a bonus, also reduces the risk of breast cancer. It’s absolutely clear that oophorectomy saves women’s lives.

HOWEVER.

Oophorectomy brings its own horrors. Surgical menopause is no joke. A recent UPenn study found that the vast majority of women who undergo RRBSO experience some form of “sexual dysfunction, menopausal symptoms, cognitive and stress issues, and poor sleep” after surgery. I couldn’t help but roll my eyes when I saw this study: after all, thousands upon thousands of women in the BRCA+ community have been griping about surgical menopause for decades. Did we really need a study to tell us premature menopause is bad? Apparently so, if we want doctors and researchers to take us whiny hysterical ladyfolk seriously.

Despite the fact that oophorectomy is a surgery with serious repercussions, BRCA+ women are pressured (by other BRCA+ women, by doctors, by researchers, by genetic counselors, etc.) to undergo RRBSO after child-bearing is completed and by the age of 35. The pressure to get an oophorectomy by 35 is even more intense than the pressure to have a mastectomy, since removal of the ovaries also reduces the risk of developing breast cancer. From my (very, very pre-menopausal) perspective, oophorectomy is a far more radical surgery than mastectomy, as difficult as that procedure undoubtedly is, because removing the ovaries throws women into instantaneous surgical menopause. The ovaries continue to help regulate hormonal function in women even after natural menopause and oophorectomy has a range of often unpredictable side effects and not well-studied medical repercussions.

When women do not live by the commandment to remove their ovaries by 35, they are often explicitly or implicitly blamed for their own cancers. Take this otherwise sympathetic article entitled “Cancer sufferer Elisha Neave, who chose to delay preventative surgery dies aged 36.” The headline suggests that if only Elisha had followed HBOC recommendations and removed her ovaries by 35, then she would be alive today. After Elisha passed away, many BRCA+ women responded to this particular headline by expressing empathy for her and her family, but also by asserting the importance of early oophorectomy for high risk women. As I’ve written before, there’s a huge flaw in this logic: Elisha’s choice to delay oophorectomy was well within the guidelines for BRCA+ women. Her ovarian cancer struck unusually early, even for a BRCA+ cancer, and official guidelines cannot account for cases like hers. In other words, the oophorectomy by 35 commandment wouldn’t have saved her. (Incidentally, it’s funny/infuriating how BRCA+ women are censured by the general public and mass media for both choosing and not choosing to have prophylactic surgery. We just can’t win.)

The often repeated deadline to have an oophorectomy by 35 is misleading, for a variety of reasons. For starters, BRCA1 and BRCA2 mutations carry significantly different risks for ovarian cancer, which require somewhat different surgical management. What’s more, ovarian cancer in BRCA1 and BRCA2 women tend to develop at different points in their lives. BRCA1 women are more likely get ovarian cancer after the age of 40, while BRCA2 women are more likely to get it after the age of 50. Again, this means that BRCA1 and BRCA2 require different surgical management strategies. Few things bother me more in the BRCA+ community than hearing “oophorectomy by 35” get bandied about as a set-in-stone commandment when in fact the timing of oophorectomy might differ significantly according to which genetic mutation you have.

Speaking of commandments, who gave us this one? At the Joining FORCEs conference a few weeks ago, Dr. Noah Kauff noted that the “oophorectomy by 35” deadline actually originated in a misreading of his own research. In his study, he and his co-researchers observed that RRBSO after 35 is reasonable for BRCA+ women. Somewhere in the telephone game of media reportage and social media that recommendation got turned into a hard and fast rule, but it’s not. To my surprise, Dr. Kauff said that because BRCA2 women are less likely to develop ovarian cancer than BRCA1 women and that when they do it usually emerges after the age of 50, he doesn’t even recommend screening BRCA2 women for ovarian cancer until the age of 40 and may even counsel a BRCA2 patient to delay oophorectomy until her early-to-mid-40s (depending on the patient, of course).

What was so refreshing about Dr. Kauff’s presentation is his acknowledgement that BRCA+ women should have individualized prevention plans based upon their particular situations, family histories, and mutations. This was not the sort of attitude I saw among many male doctors at the Joining FORCEs conference, most of whom were clearly on TEAM OOPH. For instance, during his presentation on testing for founders mutations abroad, Dr. Steven Narod commented that “The benchmark for success is the number of oophoretomies performed on healthy women.” His reasoning is that oophorectomies are the only proven way to prevent ovarian cancer in high risk women. He’s not wrong, but the issue is far more complicated than a unilateral approach suggests.

And yes, TEAM OOPH is a boys’ club. Women doctors and researchers are far more likely to acknowledge that surgical menopause comes with an array of negative psychological, cognitive, and other effects, some of which are temporary and simply unpleasant and others that may be chronic and serious (at the same conference, Dr. Karen Hurley remarked that BRCA+ women face an “avalanche” of imperfect choices–truer words have never been said).

History tells us that patriarchal medicine has long removed female organs with little regard for women’s desires, agency, and quality of life. The prevalence of unnecessary hysterectomies even today is just one example of the ways in which this cavalier attitude towards women’s bodies continues in modern medicine. The truth is that the female reproductive track has not been well studied and there’s a lot that remains a mystery about such quotidian biological processes as menstruation and hormonal cycles. Considering this context, it’s little surprise that ovarian cancer in particular is poorly understood. The solution to such widespread ignorance about female organs should not be removal. It should be more research.

But research takes time and although important work is currently underway, it won’t be done in time for many BRCA+ women who need to decide how to lower their risk of ovarian cancer. For now, oophorectomy will remain an important option for risk reduction for BRCA+ women.

While we wait, the BRCA+ community–patients, doctors, researchers, genetic counselors, groupies, etc.–need to make some attitudinal changes.

  • We need to keep in mind at all times that BRCA1 and BRCA2 are very similar but not identical.
  • We must demand prevention management strategies that take into account these differences.
  • We need to demand more research on the risks associated with particular mutations within BRCA1 and BRCA2.
  • We need to demand personalized risk estimates based on our individual mutations, family histories, situations, and values.
  • We need to acknowledge that ovarian function is important for a woman’s psychological and physical health even after her childbearing years and even a woman who does not want to have (more or any) children may have valid reasons for ovary conservation.
  • We need to demand surgical alternatives to oophorectomy.
  • We need to demand alternatives to surgical risk reduction altogether.
  • We need to demand better ways to manage surgical menopause.
  • We need to remember that surgery is just one strategy for risk reduction and not a mandate, and that there are good reasons for choosing surveillance or chemoprevention.
  • We need to stop implicitly blaming women for not doing “enough” to prevent their own cancers, whether that be not exercising more or delaying oophorectomy.
  • We need to acknowledge that quality of life is incredibly important.
  • We need to understand that not all doctors agree about timing oophorectomy and we need to familiarize ourselves with these medical debates.
  • We need to reject one-size-fits-all approaches to risk reduction and need to make well-informed, medically sound decisions for ourselves.
  • We need to stop being so matter-of-fact about tearing out healthy ovaries and sending women into surgical menopause. It is, at best, the lesser of two evils.