UPDATE, 2013: Attagirls to Keren! She has taken up running and, if Facebook photos can be believed, has reduced her BMI significantly! This cannot have been easy but it's protective of her health in many ways, including reducing her risk of cancer. Way to go!
While visiting Israel recently I struck up a conversation with my distant cousin. He was standing in four feet of water, monitoring a splash battle between his rambunctious twins while also keeping his one-year-old afloat. I teasingly asked if he and his wife Keren would be having more kids. In halting English he explained to me there would be no more, that his wife had an operation. “Typical,” I thought, “make the woman have surgery when a vasectomy is so much simpler!”
Well, I was too quick to judge. Keren gave me a more complete picture. It seems that because her mom has survived both endometrial and breast cancer Keren suspected she too could be at higher risk for ovarian and/or breast cancer. Concerned that she may have inherited a BRCA mutation from her Ashkenazi mother, she was tested. The result was positive.
Incidence and testing
Although people with inherited BRCA mutations live around the globe the most notoriously high incidence is among Ashkenazi Jews. As many as 1 in 40 has a BRCA mutation (Struewing et al, NEJM 1997) while the general population risk is considered to be 1 in 345. Although having the mutation does NOT confer 100% cancer risk, women with an altered BRCA1 or BRCA2 gene are 3 to 7 times more likely to develop breast cancer.
Testing Ashkenazi people for BRCA has become easier in recent years. Because of shared ancestry, three distinct mutations make up 90% of those mutations detected in Ashkenazi people. As a result, a “targeted mutation analysis” test is available that efficiently (and less expensively) looks only for these mutations. (NIH, 2007)
Still, unless one knows how to navigate testing services, interpret results and take action, testing is an exercise without much clinical upside. Genetic counselors can help but the role of genetic counselors is in transition, not universally understood and not covered by medical regulation. Doctors don’t order and insurers don’t want to pay for testing in the absence of a compelling reason plus an established prevention or treatment protocol. If they’re willing to take control, American women who decide on testing have options – as long as they have resources. They can test through their physician or test online.
Got the results, now what?
After testing, while BRCA positive American women too often are left to devise their own care plan, her provider (under Israeli National Health Insurance) knew just how to help Keren. Because she and her husband understood that her risk increased over time, at age 30 she took one cycle of ovarian stimulation to jumpstart the process of conception.
Between 30 years old and 40 the risk explodes! (table courtesy NIH) So they got pregnant one last time, the natural way, when the twins were five years old. After one year of nursing her new baby, Keren had surgery: a prophylactic bilateral salpingo oophorectomy. She’s 38 now and with her ovaries gone she’s suffering menopausal symptoms such as hot flashes and weight gain. By reducing her hormone levels she has dramatically reduced her risk of breast cancer. She will receive routine MRI surveillance of her breasts for many years.
How it works in the USA
Keren was calm as she told me her story. The only part that upset her (OK, besides her weight gain) was the knowledge that American women who learn they are BRCA positive often have mastectomies: removing healthy breasts in order to prevent cancer. Our time together was over before I could explain this to her but here’s what I think:
Particularly since the advent of reconstructive surgeries, American women seem to be persuaded – motivated perhaps by an excess of fear – that their best option is to remove their breasts. “Prophylactic mastectomy is effective, reducing the chance of developing breast cancer by as much as 95% in high-risk women,” one patient advocate site proclaims.
...according to the same advocacy group, oophorectomy can reduce the risk by 60 – 70%. That's right: as long as you keep a close watch on 'em you get to keep the breasts and your breast cancer risk is still dramatically reduced.
Juggling the numbers and assessing one’s comfort level with risk is difficult. Educating oneself about medical options takes time and resources. And arguing with a health insurer just makes things worse. According to the US patient advocacy organization FORCE (Facing Our Risk of Cancer Empowered)
Because MRI is still a relatively expensive test, not all insurance companies will pay for it, even in women with a demonstrated BRCA mutation…MRI is not yet universally considered standard of care for BRCA carriers, although NCCN and the American Cancer Society have both included MRI in their recommendations for screening of high-risk women. (emphasis mine)To reiterate: research supports surveillance with MRI for women at increased risk
but here in the US, MRI is NOT the standard of care received by BRCA positive women. I don't question any individual's choice or right to make that choice, but maybe more
American women would keep their breasts if they had access to the best imaging available.
The ROI of MRI
American women at high risk, distrustful of the mammography screening protocol available to them, are choosing mastectomies and reconstructive breast surgeries -- along with their attendant risks. Cost-effectiveness data published this year found surveillance with MRI to be cost-prohibitive relative to lives saved. Lives saved is, of course, the gold standard measure for medical research but what if we also measured for MRI's value in preserving healthy breasts? Plus the value of preventing surgical complications? Then the ROI becomes a little greater, does it not?
Keren, we know that you are grateful for your current good health and wonderful family. You also live in a society whose health care system values people over profits. Be thankful for that, too, and stay well.