On science blogs: Jolie laide

THE BREASTS OF ANGELINA JOLIE. I expected lots of blog posts about Angelina Jolie's double mastectomy. I didn't expect the torrent we're getting. My unscientific impression is that this is the single most-blogged-about medical topic I've looked at since I began writing On Science Blogs in 2009, going on 5 years ago.

Jolie knew it would be a big deal, of course, which is why, as Knight Science Journalism Tracker Paul Raeburn pointed out, she quite sensibly got out ahead of the story. If she hoped that would help her exert some control, she may be disappointed. I wonder if even she is surprised by the degree of clamor.

Angelina Jolie at the San Diego ComicCon, 22 July 2010. Credit: Gage Skidmore.

Angelina Jolie at the San Diego ComicCon, 22 July 2010. Credit: Gage Skidmore.

Perhaps it should have been predictable. Even in mad mediaworld this is an extraordinarily potent mix, involving a super-celebrity superstar who always makes news and sometimes scandal (and whose equally high-profile partner, here somewhat in the background, does ditto), plus women's breasts (two of them), plus breast reconstructive surgery, plus a cancer that is irrationally terrifying, and all of this soaked in a subtext of sex sex sex.

The fluff, with an occasional dollop of viciousness (especially on Twitter), is all-encompassing. I'm confining myself here to brief notes on a severely selected group of science and medical posts.

JOLIE'S PROPHYLACTIC DOUBLE MASTECTOMY: HER SURGEON SPEAKS. As part of her preemptive strike, Jolie gave her surgeon permission to describe her treatment. I suspect it was more than permission; it looks to me like PR orchestration, since doc Kristi Funk's post appeared on the same day as Jolie's New York Times op-ed revealing her surgery. It is of course matchless promotion for the surgeon and the outpatient clinic where it was performed, the one with the faintly mystical spa-ish name. This may be a most serious subject, but Hollywood is never far away.

Snarkiness aside, I thoroughly approve. Open case notes on a famous figure's medical condition are not unprecedented, but they are certainly unusual. It's a bit odd that so little has been said about these public details. The post is long and clinical, but not especially technical, and you would expect reporters and bloggers to have drawn upon it. So far as I can determine, few did.

OFFICIAL MEDICAL ADVICE ON THE BRCA GENES AND BREAST CANCER. Jolie decided on the drastic surgery because her family history, and her mutant BRCA1 gene, upped her statistical risk of breast cancer to, she says, 87%. Doc Preeti Malani's Q&A with doc Boris Pasche appeared at news@JAMA. Pasche said flatly that women with no personal or family history of these cancers "should not be offered [genetic] testing."

He walks readers through genetic counseling, management options that include intensive monitoring as an alternative to surgical breast removal, and what to do with ambiguous genetic test results. "It is preferable that BRCA testing be ordered by clinicians with expertise in cancer genetics," Pasche says, adding that he expects no big increase in genetic testing as a result of Jolie's announcement.

I regard these comments as conventional medical advice, as close to the official word as we're going to get. In Pasche's scenario, the experts are firmly in charge and the patient is a vessel into which they pour their wisdom. Surprisingly old-fashioned, really.

At the Health Care Blog, Doc Shirie Leng thinks Jolie probably did the right thing given her history. But she reminds us, in some detail, that a double mastectomy is pretty horrible. Jolie seems to have been fortunate in her recovery, but for many women the surgery and its aftermath are the very definition of not fun.

It sounds as if that's what happened to Rebecca Hull, whose BRCA1 mutation prompted her double mastectomy too. Hull works for Cancer Research UK, and her blog post on the organization's site recounts a series of surgical journeys that haven't gone exactly as planned. And it's not over yet. She must still figure out whether surgery is the answer for her high risk of ovarian cancer. (Jolie must make the same decision.) Despite the rocky course of her treatment, Hull says she has no regrets.

WE PAUSE FOR A STRICTLY SCIENTIFIC INTERLUDE. A Zimmer primer on the BRCA genes at The Loom explains that the normal version of BRCA1 prevents cancer by preventing mutations in other genes and repairing broken genes. The peculiar good news about the mutant BRCA1 genes that cause breast and ovarian cancer is that women who have them tend to have more children than women with the normal BRCA1 gene. This has some intriguing evolutionary implications — which, of course, he explains.

THE TREND TO PREVENTIVE MASTECTOMY. Doc Pasche pooh-poohs the idea that the Jolie news will cause prophylactic mastectomies to increase, but apparently he hasn't looked at the trends. Nancy Shute has, and at Shots explains that a great many women who have their breasts removed because of one cancer believe they are at particular risk for recurrence. Mostly they aren't.

Shute says the rise in preventive mastectomy is an American trend not found in Europe, and today insurers generally cover the surgery and post-op reconstruction too. According to Otis W. Brawley, chief medical officer of the American Cancer Society, Obamacare will require insurers to cover counseling and testing for breast cancer risk — but not the surgery itself. Can that be true? Surely most of them will cover breast cancer surgery. Won't they?

At Maclean's Science-ish, Julia Belluz looks at the data and points out that while double mastectomy does save lives, it appears that there is no documented benefit for the majority of surgical patients with genetic risk factors. They might have lived long lives even if they had kept their breasts.

THE COST OF THE MYRIAD GENETICS PATENTS ON BRCA1 AND BRCA2 In the US, a genetic test for a cancer-causing mutant BRCA1 gene is said to cost between $3,000 and $4,000. Apparently insurance will often pay, and of course Angelina Jolie probably doesn't have to worry about her medical bills whether she has insurance or not. But what if you don't have either insurance or a hefty income? If you can wait a few months, Obamacare to the rescue; see above.

The reason the test is so expensive is that Myriad Genetics has patented BRCA1 and BRCA2, mutants and all. That seems batty to a lot of us, the idea that genes possessed by everyone on this planet can be owned by a commercial organization. Sometime in the next few weeks the US Supreme Court will let us know whether it seems batty to them, too. This being a court with much affection for commercial interests, I wouldn't bet on it. Others are not so sure, as I recounted here in April.

As a result of the Jolie mastectomies, the Myriad case has resurfaced. Andrew Cohen summarizes the back-and-forth history of the myriad Myriad court cases at The Atlantic. At Gene Expression, Razib Khan is intrigued by the fact that geneticists all seem to oppose the Myriad patents. At Patent Docs, Kevin Noonan analyzes a Nature Biotechnology article describing the history of DNA patents and arguing that the Myriad case is an anachronism because the future of biotech does not rest on patenting.

Bilateral saline breast implants, before (l) and after. Credit: Otto J. Placik

Bilateral saline breast implants, before (l) and after. Credit: Otto J. Placik

AND THIS JUST IN: ARE BOOB JOBS FOR BOOBS? At Journal Watch, Andrew Kaunitz describes a big BMJ study showing that breast implants increase a woman's chances of dying of breast cancer. In the US, he says, more than 300,000 women undergo breast augmentation every year.

Good grief.

Want to add that there is a movie, Decoding Annie Parker, about the 15 year hunt for the mutation in BRCA1 - and the researcher, Mary-Claire King, who is featured in the movie. (Played by Helen Hunt.) The movie director was on public radio recently, saying that he never expected this Jolie wrinkle, which may boost the film. http://www.xconomy.com/seattle/2013/05/15/hollywood-celebrates-breast-ca...

Just wanted to correct a mistaken impression (full disclosure: I edit the news@JAMA blog).

You said that Dr Pasche missed a trend of increasing numbers of prophylactic mastectomies, and linked to an NPR story about increasing #s of US women who have an early breast cancer in one breast and opt for mastectomy (rather than lumpectomy) in the affected breast and prophylactic mastectomy in the other breast.

Here's what was actually said in the news@JAMA blog: "Although Jolie’s op-ed will likely bring increased attention to an important issue in women’s health, Pasche says he does not expect it will result in a large increase in the number of women undergoing testing for BRCA mutations. “I don’t expect a major sea change,” he said, noting that Jolie is not the first celebrity to reveal that she has a BRCA mutation.

So Dr Pasche said he does not expect a large increase in BRCA testing.

Hi, Joan. You are, of course, quite right. I am guilty of conflation. Not for the first time. Yikes.

I wanted to provide a Myriad perspective on this issue and offer a few clarifying points.

BRACAnalysis is the leading test to determine if a patient has an increased risk of hereditary breast and ovarian cancer. It has been used by more than one million patients, and today the company performs about 250,000 tests per year.

BRACAnalysis is covered by essentially all private health insurance insurers, Medicare, and 70% of the individuals on Medicaid so the test is widely accessible and the vast majority of at-risk patients have insurance reimbursement. On average, patients’ out-of-pocket expense is less than $100. Also, BRACAnalysis was classified as a preventative service under the Affordable Care Act and anyone in a non-grandfathered insurance plan can receive BRACAnalysis testing with no out-of-pocket cost. You can find more information in the FAQs about Affordable Care Act Implementation Part XII at: http://www.dol.gov/ebsa/faqs/faq-aca12.html.
For patients in the greatest need, Myriad has a patient assistance program to offer testing for free.

Myriad invested more than $500 million in discovering and developing BRACAnalysis, and the company is committed to responsible pricing of its molecular diagnostic tests. Myriad believes its molecular diagnostic tests are priced appropriately and reflect the value they provide to patients, payers and health care providers relative to other therapeutic alternatives. Appropriate use of our tests reduce illness, hospitalizations and other costly interventions, and lower healthcare costs.

Also, in a recent study published by the Duke Institute for Genome Sciences & Policy, their findings state that “Prices for BRCA 1 and 2 testing do not reflect an obvious price premium attributable to exclusive patent rights compared with colorectal cancer testing, and indeed, Myriad’s per unit costs are somewhat lower for BRCA 1//2 testing than testing for colorectal cancer susceptibility.”

Beyond merely doing no harm, gene patents help more patients get access to life-saving medical technology than they otherwise would. Myriad Genetics has invested hundreds of millions of dollars and two decades in delivering the highest quality genetic testing to the most patients possible. This kind of investment by an exclusive genetic testing provider simply does not happen when there are multiple providers.

Comparing hereditary breast and ovarian cancer syndrome (HBOC) with Lynch syndrome (colorectal cancer) suggests patients may in fact be harmed when there are multiple providers. Despite HBOC and Lynch having equivalent prevalence and associated cancer risk, over the last three years more than 4.5 times more patients were tested for the BRCA genes by Myriad than were tested for the Lynch genes by 15 providers.

Comparing BRCA gene testing in the United States versus Europe confirms these findings. Each year, between two and eight times more U.S. patients get BRCA testing by Myriad than are tested by the 25 providers offering such testing in five major European countries. And in both HBOC versus Lynch and U.S. versus Europe, Myriad’s test is of dramatically better quality at the same or a better price. In Europe, where there are multiple providers of the BRAC testing, the average cost reimbursed by the health plans/system there is much higher. For example, Switzerland is $8,277, Germany is $7,636, Italy is $5,866.

Thousands of patients have benefited from the BRCA patents, and untold thousands have suffered for lack of a patent-incentivized standard-bearer. In the words of Linda Bruzzone, the head of Lynch Syndrome International and a Lynch syndrome mutation carrier, “Many of us with Lynch Syndrome wish there had been a patent in place for us. It would have protected us and perhaps protected the lives of our loved ones.”

Lastly, Myriad has not blocked research on the BRCA genes. More than 18,000 scientists have published more than 10,000 scientific papers on BRCA, ranking them among the most researched genes in history.