Search all of the Society for Participatory Medicine website:Search

Going public recently with her story of a prophylactic double mastectomy after testing positive for BRCA1 (a gene linked to breast cancer) via an op-ed piece in the New York Times, Angelina Jolie is clearly trying to get the message out that radical choices must sometimes be made in order to increase one’s chances of survival, chances of spending more years with family and friends, and continuing to do one’s work on this earth. She is seeking to advance the public health conversation, and to empower women to make a choice that may otherwise be frowned upon, by giving her surgeon carte blanche to blog about her surgeries as well.

The questions that came to mind immediately for me when I first heard about this story (via radio talk shows as I was driving to and from meetings) included: Isn’t that the gene that was patented? Isn’t that test incredibly expensive and probably not accessible to most women? How is this story relevant to most women?

Later on, I was glad to see that I wasn’t the only one asking these questions. Marketplace explored some of these issues in its coverage.

Starting with the question of relevance to others, let me first note that Jolie’s piece is a terrific message of self-empowerment through knowledge. The problem is, a 1,000-word piece in the Times just cannot hope to be a comprehensive treatment of the issue. A blog post at the Times effectively acknowledged as much the next day, noting that not all relevant mutations are BRCA1 or BRCA2 and that prophylactic mastectomy is not right for all women with the genetic marker. Jolie’s piece did not delve deeply into her decisionmaking process, or into the emotional toll it must have taken on her and her family. She noted the option of having an oopherectomy (removal of the ovaries; the genetic markers also indicate a heightened risk of ovarian cancer) and noted that she opted not to pursue that path at this time. Others (including S4PM’s own Eve Harris … writing about a relative’s choice made several years ago, in another part of the world) have written about the potential for overuse of prophylactic mastectomies when watchful waiting, with or without oopherectomies, may be preferable. (Takeaway: It’s complicated.)

Jolie’s strength in taking control of decisions about her health care is laudable; the next question to consider is whether her example is replicable by individuals without her resources.

The price for the test is now about $4000, though most insurance that covers it yields an out of pocket cost to the patient of $100 (according to Myriad, the company that holds the patents). Experts outside the company have said that the test costs less than $200 to run (thus raising the question of whether insurance premiums for all should be raised, effectively, to underwrite Myriad’s bills for the test … just one of a gazillion microchoices that have to be made about insurance coverage which ultimately hit us all in the pocketbook).

The test is only recommended for women with risk factors (family history, Ashkenazic Jewish heritage, etc.) — about 2% of women in the US per the CDC.

The patents for the BRCA1 and BRCA2 genes have been challenged, and the case was recently argued before the Supremes.

Two problems with the patent lock-in highlighted by the story on the appeal:

  • Patients can’t get a “second opinion” and the test sometimes misses mutations of the genes present in some families
  • Researchers have gotten a pass from Myriad thus far, but if the patent is upheld, Myriad could potentially block publication of research or sharing of research with patients and families (the concern would be greatest if Myriad were to block publication of research critical of the test)

The Court has to decide between the two sides of the argument. As boiled down by Nina Totenberg:

[Myriad’s lawyer] … contends that by locating the gene and isolating it — snipping it out from the rest of the genetic material — Myriad has created a new and patentable thing. He says it’s “no different than allowing a baseball bat or cast iron fence to be patented as a new invention,” even though those items “originated in a tree” or a “rock.”  The baseball bat and cast iron fence are still “human inventions” and thus are patent eligible.

“We do know Myriad did a lot of work,” says New York University law professor Rochelle Dreyfuss, a nationally known patent expert who is not associated with either side in this case. But that’s not enough, she says, because the court still has to answer this question: “Is the thing that’s isolated significantly different from the way that it was when it was in nature?”

[The attorney] representing the patent challengers contends that Myriad is merely following nature’s instructions about where to snip out the gene.

“The structure of the gene, the constituent elements of the gene, the significance of the gene … where the gene starts, where the gene ends, all of those are decisions that nature made,” he says. “Myriad just uncovered the fact that nature had made those decisions.”

This case will likely have wide-ranging ramifications, however it is decided, and will affect health care costs and quality of care in realms far beyond breast cancer.

Jolie, unlike most patients, did not really have to consider cost in her decisionmaking process. She also has the attention of a surgeon who apparently makes house calls, and a supportive partner. These factors, along with the risk factors and other issues that went into her decisionmaking process mean that this is still a personal decision, and that it will be difficult, if not impossible, to standardize a best practice regarding prophylactic double mastectomies and oopherectomies. Nevertheless, kudos to Jolie for going public, for demonstrating powerfully the role of the patient in self-determination, and for making her choice a more acceptable choice for many women who may be affected.

Here’s hoping the pendulum doesn’t swing too far and result in “too many” surgeries. And — perhaps a little further off in the future — here’s hoping that a positive test result for  BRCA1 or BRCA2 can result in gene therapy to “turn off” the mutated gene, or replace it, rather than surgery to remove healthy tissue. That’s a future when information gleaned from genetic tests may be put to use through genetic therapies, a future in which we’ve eliminated the need to agonize over choices regarding surgeries that some today consider barbaric, and others consider potentially life-saving necessary evils.

What do you think? Did Jolie share enough information in her op-ed piece to help others make informed choices? Will her example increase testing and surgeries? Is that a good thing? How long will it take for gene therapy to catch up with genetic testing? What should medicine offer in the meantime?

David Harlow is a health care lawyer and consultant at The Harlow Group LLC, and chairs the Society for Participatory Medicine’s public policy committee. A version of this post first appeared on his home blog, HealthBlawgYou should follow him on Twitter: @healthblawg


Please consider supporting the Society by joining us today! Thank you.