Then I realized something was missing in her piece; something that should have been printed in big black letters:
NOTE: This story is not relevant to more than 99% of American women
Why? Because more than 99% of women do not have the BRCA1 mutation -- or the BRCA2 mutation, for that matter.
Let's be clear, the BRCA1 mutation is a bad thing. Although I might quibble with the exact numbers in the piece, the big picture is this: the mutation increases the risk of developing breast cancer about five fold and increases the risk of ovarian cancer more than 10 fold.
It is a powerful risk factor for these cancers -- almost as powerful as cigarette smoking is for lung cancer.
When people are at very high risk for something bad to happen, preventive interventions are more likely to be a good deal; that is, the benefits are likely to exceed the harms. I'm not saying that prophylactic mastectomy is the right choice for a woman with BRCA1, simply that it is a reasonable one.
When people are at average risk, the deal changes. The opportunity for benefit is less, simply because the bad event is less likely to happen. But the harms of preventive intervention remain roughly the same.
It is a fundamental precept of medicine -- one I hammer home with undergraduates (future patients) and medical students (future doctors): Patients with severe abnormalities stand to gain more from intervention than patients with mild ones. Patients with mild abnormalities are more likely to experience net harm from intervention, simply because they have less opportunity to benefit.
The vast majority of women don't have the BRCA1 mutation. They are at average risk for breast cancer. They are not Angelina Jolie. They should not have a preventive mastectomy
The New York Times
May 16, 2013
Genetic Testing for Women at Risk of Cancer
To the Editor:
In her thoughtful article about her choice to undergo a double mastectomy, Angelina Jolie said the cost of genetic testing for BRCA1 and BRCA2 mutations “remains an obstacle for many women” (“My Medical Choice,” Op-Ed, May 14).
Our BRACAnalysis test has been used by more than a million women to assess their risk of hereditary breast and ovarian cancer.
The test remains widely reimbursed by insurance companies, with more than 95 percent of at-risk women covered and with an average out-of-pocket cost of about $100. And, thanks to preventive care provisions in the Affordable Care Act, many patients can receive BRACAnalysis testing with no out-of-pocket costs.
For patients in need, Myriad offers a patient assistance program that offers testing at reduced costs or free of charge.
PETER MELDRUM
President and Chief Executive
Myriad Genetics
Salt Lake City, May 16, 2013
http://www.nytimes.com/2013/05/17/opinion/genetic-testing-for-women-at-risk-of-cancer.html?src=recg
To the Editor:
“Jolie’s Disclosure of Preventive Mastectomy Highlights Dilemma” (front page, May 15) discusses Angelina Jolie’s decision to undergo prophylactic surgery after testing positive for a BRCA1 mutation. It should be noted that not all hereditary breast and ovarian cancer is attributable to mutations in BRCA1 and BRCA2.
An alternative dilemma exists when a patient has a very strong family history of breast and ovarian cancer, especially diagnosed at young ages, and the BRCA test is negative.
The patient is left wondering what to do next. These patients should consider a new method of testing for multiple genetic mutations via next-generation sequencing, which can often be ordered as part of a research protocol in academic centers.
SUSAN KLUGMAN
Bronx, May 15, 2013
The writer, a clinical geneticist, is director of reproductive genetics at Montefiore Medical Center and an associate professor at Albert Einstein College of Medicine.
http://www.nytimes.com/2013/05/17/opinion/genetic-testing-for-women-at-risk-of-cancer.html?src=recg
The New York Times
May 20, 2013,
No Easy Choices on Breast Reconstruction
By RONI CARYN RABIN
By almost any measure, Roseann Valletti’s reconstructive breast surgery was a success. Although it was a protracted process, involving some pain and a nightmarish nipple replacement, she is pleased with how she looks.
But she is uncomfortable. All the time. “It feels like I’m wrapped up in duct tape,” said Mrs. Valletti, 54, of the persistent tightness in her chest that many women describe after breast reconstruction.
“They look terrific, to the eye,” added Mrs. Valletti, a teacher who lives in Valley Stream, N.Y., and who learned she had early-stage cancer in both breasts five years ago. “But it’s never going to feel like it’s not pulling or it’s not tight. It took me a while to accept that. This is the new normal.”
Last week the actress Angelina Jolie announced in The New York Times that she had had a double mastectomy in February after testing positive for a genetic mutation that put her at high risk for breast and ovarian cancer. She also had reconstructive surgery.
Her disclosure was lauded by some advocates as a bold move that will inspire women to be proactive, learn about their family histories and risks, and consider genetic testing.
At the same time, some breast surgeons are discomfited that some might infer from the article that reconstructive surgery is a quick and easy procedure, and worry that Ms. Jolie inadvertently may have understated the risks and potential complications.
For most patients, like Mrs. Valletti, breast reconstruction requires an extended series of operations and follow-up visits that can yield variable results. Some women experience so many complications that they just have the implants removed.
“We do not yet have the ability to wave a wand over you and take out breast tissue and put in an implant — we’re not at “Star Trek” medicine,” said Dr. Deanna J. Attai, a breast surgeon in Burbank, Calif., who is on the board of the American Society of Breast Surgeons.
Ms. Jolie said that she completed her reconstructive surgeries in nine weeks, but for many patients the process takes closer to nine months. “Three months is probably a little unusual,” said Dr. Gregory R. D. Evans, in Orange, Calif., president of the American Society of Plastic Surgeons. “I usually tell my patients it will take about a year.”
And it is major surgery. Even with the best plastic surgeon, breast reconstruction carries the risks of infection, bleeding, anesthesia complications, scarring and persistent pain in the back and shoulder. Implants can rupture or leak, and may need to be replaced. If tissue is transplanted to the breast from other parts of the body, there will be additional incisions that need to heal. If muscle is removed, long-term weakness may result.
A syndrome called upper quarter dysfunction — its symptoms include pain, restricted immobility and impaired sensation and strength — has been reported in over half of breast cancer survivors and may be more frequent in those who undergo breast reconstruction, according to a 2012 study in the journal Cancer.
“People have to understand it’s not a breeze,” said Geri Barish, president of 1 in 9: The Long Island Breast Cancer Action Coalition and a three-time survivor of breast cancer. “I don’t want people to think this is the cure-all, that this is it, hurry up, run out and get the test and have your ovaries and breasts removed.”
Types of Reconstruction
An array of new techniques, each with its own risks and potential benefits, makes for bewildering options for women. The first choice in breast reconstruction is whether to have implants or to make the new breast from muscle or fat and skin taken from elsewhere in the body, often from the abdomen — so-called autologous tissue transfer.
More plastic surgeons are familiar with implants, and the procedure is less expensive than tissue transfer. Of the 91,655 women who had reconstruction last year in the United States, a vast majority opted for implants, with 64,114 choosing silicone and 7,898 choosing saline, according to the American Society of Plastic Surgeons. Just over 19,000 women chose autologous tissue transfer.
Many surgeons believe silicone implants confer a more natural look than saline, despite a long-running controversy over their safety. The Food and Drug Administration allowed silicone implants back on the market in 2006, after studies showed they did not increase the risk of immune disease. A new type is filled with a thick gel that may pose less risk of leakage.
Whether they are silicone or saline, however, implants do not last a lifetime. As many as half need to be replaced or removed within 10 years, according to the American Cancer Society. The implants can rupture, cause infections and lead to pain. Scar tissue often forms around the implants, making the breast hardened or misshapen. Last year alone, there were 16,596 procedures done to remove breast implants.
Reconstruction may be started at the same time as the mastectomy, or later. Usually the first step is to place a so-called tissue expander under the chest muscle, which normally presses against the ribs. The surgeon injects saline into the balloonlike pouch at regular intervals several weeks apart to create space for the implant.
Eventually, the expander is removed and replaced with the implant. (Unlike breast tissue, which sits on top of the chest muscle, the implant is situated under the muscle, which holds it in place.) The process can take several months, longer if problems develop or the patient needs other treatment like radiation, which tends to damage the surrounding skin and make it less hospitable to an implant.
In autologous tissue transfers, muscle, skin or fat from another part of the patient’s body substitutes for an implant. Some surgeons believe this creates a more natural-feeling and natural-looking breast. There are several options.
The transverse rectus abdominis myocutaneous, or TRAM, flap procedure uses tissue and muscle from the lower abdomen to shape a breast mound. But the surgery weakens the abdominal area, and at Johns Hopkins Breast Center, the procedure has been abandoned because of the risk of hernias and abdominal bulges and limitations on lifting after surgery.
Instead, some surgeons now perform the deep inferior epigastric artery perforator, or DIEP, flap procedure, which uses only abdominal skin and tissue, not muscle, to create the breast. Both the TRAM and DIEP surgeries are lengthy procedures that can last 12 hours and can lead to a complication of necrosis, or tissue death, if there isn’t adequate blood supply, Dr. Attai said.
A third type of flap procedure relies on back muscle that is moved under the skin to the front of the chest, but this can weaken the back, shoulder or arm. In yet another procedure, the gluteal free flap, tissue and muscle from the buttocks are used to create a breast mound.
Simulating a Nipple
Reconstruction of the nipple has long been a challenge. Surgeons have used incision scar tissue or tissue taken from the groin or between the buttocks to craft nipples. Tattoos are also used to darken the areola, with 3-D tattoos that create the impression of a nipple.
With a nipple- and skin-sparing mastectomy, the surgeon removes all of the glandular breast tissue while preserving the skin, areola and nipple, much as one might scoop all the fleshy fruit out of an orange and leave the skin intact. This is the procedure Ms. Jolie had. Yet even when it is successful, the nipples usually lose sensation and are numb and cannot play the same role in sexual arousal as before surgery.
Residual breast cells may be left behind, and there is a concern that these may become cancerous. The American Society of Breast Surgeons has established a nipple-sparing mastectomy registry to track patient outcomes.
A potential complication of nipple-sparing surgery is necrosis of the nipple and areola. One recent study found that one-fourth of patients developed partial necrosis in the areola and nearby skin, and needed surgery to remove the dead tissue and to prevent infection.
The choices to be made in breast construction, or whether to have it at all, are highly individual.
“Some patients just don’t want more than one incision,” and want to avoid autologous tissue for that reason, Dr. Attai said. “Other patients want to avoid having a foreign body inside them” and therefore opt against implants.
Many women say plastic surgeons push them to choose larger implants. Some women worry that function can be sacrificed for form in the reconstruction process, leading to restricted mobility and pain that limits everyday tasks like driving and sitting at a computer, as well as more vigorous activities like biking or skiing. While women should know about the options, “all the options may not be good for you as an individual,” Dr. Attai said. It is wise to get several opinions, she added, because surgeons have their own preferred techniques and biases.
Bearing the Costs
Whatever procedure is chosen, infections are a common complication, requiring aggressive treatment with antibiotics and often surgery to remove implants. One 2012 study estimated infections occur in up to 35 percent of post-mastectomy reconstructive procedures.
Though rare, it is possible for cancer to occur or recur in a reconstructed breast, because some breast tissue remains. Recurrence happens in 1 percent to 5 percent of patients, according to Dr. Attai, as it does for women who have mastectomy without reconstruction. Recurring cancers can be somewhat easier to detect in breasts reconstructed with implants than with tissue transfer, she noted.
Though there has been concern that the nipple-sparing procedure might lead to more frequent recurrence of cancer, a recent review found that just 2.8 percent of patients experienced a recurrence over two years.
Cost is an important consideration. A federal law passed in 1998 required insurance plans and health maintenance organizations that pay for mastectomy to also cover the cost of reconstructive surgery. But the availability of plastic surgeons varies by region, and many do not accept insurance reimbursement.
Women may also face deductible payments as high as $10,000 with some plans, and those on Medicaid may face long waits because of a shortage of plastic surgeons who do breast reconstruction and accept this insurance.
While many women without cancer may now seek genetic testing for mutations in the BRCA 1 and BRCA 2 genes, they must meet certain criteria to be reimbursed by insurance, doctors say.
The criteria vary by insurer. United Health Care, for instance, covers testing if there is a known mutation in a family member or a first- or second-degree relative has developed breast or ovarian cancer. The test is expensive, about $3,000, and a negative test result for known genetic mutations does not necessarily mean a woman’s overall breast cancer risk is negligible, experts say.
“A lot of people with a strong family history of breast cancer discover they have no genetic mutation, at least not one we know about,” said Dr. Marisa Weiss, an oncologist and founder of Breastcancer.org. “While they may be relieved they don’t have BRCA 1 or 2, obviously something is going on if a family is significantly affected.”
Uncertain Results
The test results can be ambiguous, finding what is called a “variance of uncertain significance” or changes in the genetic code that are not well understood, said Dr. Susan M. Domchek, director of the Basser Research Center for BRCA at the University of Pennsylvania. Minority patients have a higher rate of such results, she said. The finding usually results in more frequent monitoring for cancer.
For all women, other options for reducing breast cancer risk include breast-feeding and avoiding both oral contraceptives and hormone therapy, Dr. Weiss said. Treatment with tamoxifen also appears to reduce the risk for BRCA mutation carriers.
None of these steps, however, will reduce the risk as significantly as prophylactic mastectomy and surgery to remove the ovaries, Dr. Weiss said.
Ms. Jolie has said indicated that she may undergo surgery to remove her ovaries. Ovarian cancer is so hard to detect that it often is found only at an advanced stage. But removal of the ovaries leads to immediate menopause and may adversely affect quality of life in drastic ways.
The multiplicity of treatment options and the persistent uncertainties about which is appropriate to an individual patient mean that decisions about preventive mastectomy have not grown easier, only harder. Many physicians are concerned that women, especially those traumatized by loss of a family member to cancer, may make hasty choices.
“We have had a rush of phone calls coming in with this idea, ‘Should I be getting my mastectomy?’ ” Dr. Domchek said. “But every surgical procedure comes with potential complications, and we need to attempt to balance the risk and benefit.”
http://well.blogs.nytimes.com/2013/05/20/no-easy-choices-on-breast-reconstruction/?hpw
Quote:
May 14, 2013
My Medical Choice
By ANGELINA JOLIE
Quote:I have always told them not to worry, but the truth is I carry a “faulty” gene, BRCA1, which sharply increases my risk of developing breast cancer and ovarian cancer. My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman.
Once the breasts of Joile were removed, what did the pathology examination of the breast tissue show? Did Joile have any form of breast cancer at the time of the surgery?
If there was any indication of cancer pathology in her breasts, was she prescribed any form of chemotherapy?
Quote:]But days after surgery you can be back to a normal life
While Joile may have gone back to work days after the surgery, the average American woman, either middle class or impoverished will never be able to afford and receive the medical care offered to Joile, and those women lucky to be part of the so-called economic upper 1%.
There is surgery and then "there is surgery". Only big bucks can get you the very best. No surgical resident in training can perform breast surgery at the same level as performed by a seasoned ( and very expensive ) surgeon. But, can the average American woman receive the very best? I doubt it, unless she has big cash.
Joile didn't have the surgery, rest in the hospital for 3 days and then run home to scrub the bath tub , mop the kitchen floor and clean/dust the rest of the house. She has household help for maintaining her household and taking care of her children because she has the big bucks of the very rich.
Why Joile thinks that the poor receive the same level of medical care as the very rich in the US and elsewhere, is very much beyond my comprehension...
Joile seems not to have had any side effects from her surgery or any of the medications she received. Most women will have side effects following surgery and some even experience incision/tissue problems months following the surgery.
Will Joile establish an endowed fund in the US so that every impoverished American woman may have the same level of medical care that she received? I doubt it.
Jolie’s Aunt Dies of Breast Cancer 2 Weeks After Op-ed
By Associated Press
May 26, 2013
ESCONDIDO, Calif. (AP) — Less than two weeks after Angelina Jolie revealed she’d had a double mastectomy to avoid breast cancer, her aunt died from the disease Sunday.
Debbie Martin died at age 61 at a hospital in Escondido, Calif. near San Diego, her husband, Ron Martin, told The Associated Press.
Debbie Martin was the younger sister of Jolie’s mother, Marcheline Bertrand, whose own death from ovarian cancer in 2007 inspired the surgery that Jolie described in a May 14 op-ed in the New York Times.
According to her husband, Debbie Martin had the same defective BRCA1 gene that Jolie does, but didn’t know it until after her 2004 cancer diagnosis.
“Had we known, we certainly would have done exactly what Angelina did,” Ron Martin said in a phone interview.
Ron Martin said after getting breast cancer, Debbie Martin had her ovaries removed preventively because she was also at very high genetic risk for ovarian cancer, which has killed several women in her family.
The 37-year-old Jolie said in her op-ed that her doctors estimated that she had a 50 percent risk of getting ovarian cancer but an 87 percent risk of breast cancer so she had her breasts removed first, reducing her likelihood to a mere 5 percent.
She described the three-step surgical process in detail in the op-ed “because I hope that other women can benefit from my experience.”
The story, a surprise to most save those closest to Jolie, spurred a broad discussion of genetic testing and pre-emptive surgery.
http://entertainment.time.com/2013/05/26/jolies-aunt-dies-of-breast-cancer-2-weeks-after-op-ed/#ixzz2UUj5Tbz0
The New York Times
June 13, 2013
Supreme Court Rules Human Genes May Not Be Patented
By ADAM LIPTAK
WASHINGTON — Isolated human genes may not be patented, the Supreme Court ruled unanimously on Thursday. The case concerned patents held by Myriad Genetics, a Utah company, on genes that correlate with increased risk of hereditary breast and ovarian cancer.
The patents were challenged by scientists and doctors who said their research and ability to help patients had been frustrated. The particular genes at issue received public attention after the actress Angelina Jolie revealed in May that she had had a preventive double mastectomy after learning that she had inherited a faulty copy of a gene that put her at high risk for breast cancer.
The price of the test, often more than $3,000, was partly a product of Myriad’s patent, putting it out of reach for some women. The company filed patent infringement suits against others who conducted testing based on the gene. The price of the test is expected to fall because of Thursday’s decision.
The court’s ruling will also shape the course of scientific research and medical testing in other fields, and it may alter the willingness of businesses to invest in the expensive work of isolating and understanding genetic material.
The central question for the justices in the case, Association for Molecular Pathology v. Myriad Genetics, No. 12-398, was whether isolated genes are “products of nature” that may not be patented or “human-made inventions” eligible for patent protection.
Myriad’s discovery of the precise location and sequence of the genes at issue, BRCA1 and BRCA2, did not qualify, Justice Clarence Thomas wrote for the court. “A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated,” he said. “It is undisputed that Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes.”
“Groundbreaking, innovative or even brilliant discovery does not by itself satisfy the criteria” for patent eligibility, he said.
But manipulating a gene to create something not found in nature, Justice Thomas added, is an invention eligible for patent protection. He also left the door open for other ways for companies to profit from their research.
They may patent the methods of isolating genes, he said. “But the processes used by Myriad to isolate DNA were well understood by geneticists, ” Justice Thomas wrote. He added that companies may also obtain patents on new applications of knowledge gained from genetic research.
http://www.nytimes.com/2013/06/14/us/supreme-court-rules-human-genes-may-not-be-patented.html?hp&_r=0
Hours after the ruling, one company — DNATraits, part of Houston-based Gene By Gene, Ltd. — said it would offer BRCA gene testing in the United States for $995 — less than a third of the current price
.
.
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Some other tests look for mutations in 16 other genes less commonly involved in breast cancer but those have not been able to include BRCA1 and BRCA2 because of Myriad's patents. Those other tests cost around $2,600. The court's ruling means these tests likely will be able to include BRCA1 and BRCA2 for no or little additional cost in the future, giving a more complete picture of a woman's risk,
dont you love how the law demands testing be paid for no matter the price thus giving companies complete freedom to price goug? this is how we got to pharmaceuticals that run well over $100,000 per person per year and genetic tests which should cost $150 instead costing $3000.
Jolie’s Aunt Dies of Breast Cancer 2 Weeks After Op-ed
No, it's because you believed big money's lies about "Socialised Medicine," and turned your backs on Universal Health Care.
The New York Times
June 13, 2013
After Patent Ruling, Availability of Gene Tests Could Broaden
By ANDREW POLLACK
Almost immediately after the Supreme Court ruled that human genes could not be patented, several laboratories announced they, too, would begin offering genetic testing for breast cancer risk, making it likely that that test and others could become more affordable and more widely available.
The ruling in effect ends a nearly two-decade monopoly by Myriad Genetics, the company at the center of the case.
“It levels the playing field; we can all go out and compete,” said Sherri Bale, managing director of GeneDx, a testing company, which plans to offer a test for breast cancer risk. “This is going to make a lot more genetic tests available, especially for rare diseases.”
Just how many other tests are affected is a bit unclear. Experts say there are not that many tests offered exclusively by one company because of patents.
But some other patents, like those on bacterial genes that might be useful in producing enzymes or biofuel, might also now be in jeopardy.
Still, biotechnology industry officials and patent lawyers said on Thursday that the decision should have little effect on the pharmaceutical industry and on developers of genetically engineered crops. That is partly because while the court held that isolated DNA could not be patented because it is a natural product, it did allow patenting of a more synthetic form of DNA that is more commercially valuable.
“The Supreme Court got it exactly right,” said Eric Lander, the president of the Broad Institute, a genetic research center affiliated with Harvard and M.I.T. “It’s a great decision for patients, it’s a great decision for science, and I think it’s a great decision for the biotechnology industry.”
It is not necessarily a great decision for Myriad Genetics, which held the patents on the two genes, called BRCA1 and BRCA2, at issue in the case.
Women with certain mutations in either of these genes have an extraordinarily high risk of developing breast or ovarian cancer. The actress Angelina Jolie, who has one of those mutations, recently had both breasts removed to sharply reduce the risk of getting cancer.
Myriad, which charges about $4,000 for a complete analysis of the two genes, had used its patents to keep others from offering such tests...
http://www.nytimes.com/2013/06/14/business/after-dna-patent-ruling-availability-of-genetic-tests-could-broaden.html?ref=health
