The value of regular screenings for breast cancer has been debated recently, with one study finding that regular mammograms do not offer an effective screen against breast cancer.
When Angelina Jolie announced in a New York Times op-ed that she had secretly undergone a double mastectomy, the Academy Award-winning actress and humanitarian sparked a debate on a topic that affects millions of women around the world.
Jolie had been diagnosed with a mutated BRCA1 gene, a mutation that dramatically increased her chances for developing breast and ovarian cancers. Her mother, actress Marcheline Bertrand, had died from breast cancer at the age of 56.
With these factors in mind, the woman considered by many as a paragon of feminine beauty took action that some still find controversial.
“Once I knew that this was my reality, I decided to be proactive and to minimize the risk as much I could,” Jolie wrote in “My Medical Choice” in May. “I made a decision to have a preventive double mastectomy. I started with the breasts, as my risk of breast cancer is higher than my risk of ovarian cancer, and the surgery is more complex.”
Researchers have concluded that Jolie may have been on the right track with her decision. In a study recently published in the Journal of Clinical Oncology, researchers found that the risk of developing breast and ovarian cancers can be reduced by as much as 80 percent if a woman with the genetic mutation has her ovaries removed by age 35. They suggested ovary removal for those with the BRCA1 mutation become standard practice.
“This really validates for those of us who take care of women who have a high-risk BRCA1 … gene, that removing the ovaries and fallopian tubes really does have a positive impact on that woman, reduces her risk of ovarian cancer tremendously and also improves her survival,” Dr. Ursula Matulonis of the Dana Farber Cancer Institute in Boston, who was not involved in the study, told NBC News.
For Jolie, money was not an issue, but for poor women, BRCA1/BRCA2 testing may not be financially viable. Medicaid/Medicare and the Patient Protection and Affordable Care Act insurance policies will only pay for genetic screenings if the patient already has cancer and there is a family history of genetic mutation. These stipulations mean that this critical screening typically must be paid for out-of-pocket if the patient has not been diagnosed with cancer — even if there is a strong family history of the mutation.
Until last June, when the U.S. Supreme Court ruled that a company cannot patent human DNA, Myriad Genetics of Salt Lake City, Utah, was the sole provider of DNA screening for BRCA1/BRCA2 mutations.
Myriad is currently suing at least seven genetics firms that are attempting to produce a cheaper BRAC1/BRAC2 screen. With Myriad receiving 75 percent of its annual revenue from its BRAC1/BRAC2 screens, the company is clearly motivated to keep competitors out of the market.
Myriad recently reduced the cost of the test from $4,000 to $3,300. However, with Medicaid/Medicare slashing reimbursements for BRAC1/BRAC2 screenings to a maximum of $1,440 starting Jan. 1, 2014, a Myriad-controlled breast cancer screening market will essentially exclude anyone that relies on federally-funded health care.
Under a settlement reached with Gene by Gene, Myriad agreed to drop its suit if Gene by Gene abandoned its plans to sell standalone BRAC1/BRAC2 screens within the United States. Gene by Gene can continue BRAC1/BRAC2 screening in the United States, but only as part of a comprehensive genome review.
With at least two genetics companies scared off from introducing breast cancer screens due to the lawsuits, and with other companies likely to be forced to settle with Myriad due to the use of patented techniques in dealing with BRAC1 and BRAC2, the days of affordable breast cancer screenings may be numbered — at least until Myriad’s patents expire or become invalidated.
There is no mechanism currently in place to make BRCA1/BRCA2 testing more affordable for poor or impoverished woman. However, the Journal of Clinical Oncology report reflects the first reduction in mortality rates among cases of BRCA1/BRCA2 mutations. With an increasing number of women opting to have their ovaries or breasts removed in such cases, advocates believe that a price reduction and an increase in insurance coverage for the screening will come sooner rather than later.
“These results could make a real difference for women with BRCA mutations, who face tough decisions about whether and when to undergo a prophylactic oophorectomy,” said Dr. Don Dizon, a member of the American Society for Clinical Oncology, in a statement.
“Importantly, for women who will be undergoing this surgery early in life, it’s reassuring to see that it carries long-lasting benefits, substantially reducing ovarian cancer risk as well as total mortality risk,” he added.
Researchers have found that diagnosed breast cancer rates are highest among women in higher income levels. There has been speculation that in lower income brackets, undiagnosed breast cancer manifests into other diseases or forms of cancer that ultimately kill the patient.
An oophorectomy, or prophylactic ovary removal, is a controversial and costly procedure. Beyond the general risks of any major surgery, an oophorectomy would mean the instant and irrevocable sterility of the patient, which could cause emotional and psychological distress in a woman of childbearing age, as well as the permanent onset of menopause. The removal of the ovaries also increases a woman’s risk of osteoporosis, heart disease, dementia and vascular and neurological problems. Declines in sex drive have also been reported.
“To me, waiting to have an oophorectomy until after 35 is too much of a chance to take,” said Dr. Steven Narod of the University of Toronto in Canada, who led the study. “These data are so striking that we believe prophylactic oophorectomy by age 35 should become a universal standard for women with BRCA1 mutations.”
Despite the severe nature of an oophorectomy, the procedure represents the only reduction of mortality in cases involving BRCA1/BRCA2 mutations.
Meanwhile, the value of regular screenings for breast cancer has been debated recently, with one study finding that regular mammograms do not offer an effective screen against breast cancer.
However, most physicians agree that among patients with a strong family history of cancer and with known mutations, preventative surgery is a wise precaution.
BRCA1 (BReast CAncer 1, early onset) and BRCA2 (BReast CAncer 2, early onset) are human tumor suppressor genes tasked with repairing the DNA of the cells in breast tissue and destroying those cells if the DNA cannot be repaired.
For those with a mutated BRCA1 or BRCA2 gene, these genes will produce proteins (breast cancer type 1 susceptibility protein and breast cancer type 2 susceptibility protein) that will ineffectively remedy DNA transcription errors. While this alone would not immediately cause the defective cells to start multiplying into a cancerous growth, the exclusion of this vital check dramatically increases the odds of cancer development.
Only 1.4 percent of all women will develop ovarian cancer, according to the National Cancer Institute. But those with an abnormal breast cancer gene have an 80 percent chance of developing cancer by age 90. Women with BRCA1 mutations have a 55 percent risk of developing ovarian cancer, and those with BRCA2 mutations bear a 25 percent risk of developing ovarian cancer.
Approximately 12 percent of all women will develop breast cancer in their lifetime. The survival rate for breast cancer is 93 percent when it is caught in its earliest stages. Due to the fact that there is no effective early warning screening on the market for ovarian cancer, which kills 15,000 women per year in the United States, the survival rate is only 46 percent for survival past five years.