Kaiser Health News’s Michelle Andrews reports that some health insurers are balking at providing coverage for genetic counseling and testing to identify mutations in the BRCA1 and BRCA2 genes that are known to increase risk of breast cancer in women.
This sort of gene testing became front page news earlier this month when actress Angelina Jolie’s announced that she had undergone a prophylactic double-mastectomy after testing positive for the BRCA1 mutation, which doctors told her increased her estimated risk of developing breast cancer to 87%, and also increased her risk factor for ovarian cancer, even though she has no sign of either disease.
Ms. Jolie’s revelation raised popular awareness of gene testing by several magnitudes, and is expected to result in many more women seeking gene testing for BRCA1 and BRCA2, which currently costs about $3,000, or closer to $4,000 if a related genomic-rearrangement test is included in the analysis. Ms. Andrews notes that while genetic counseling alone is less expensive than testing, it can still run to hundreds of dollars, and while in instances where there is a clear family history of breast or ovarian cancer, health insurers will likely be willing pay for the procedure, where no such risk has been identified, individuals desiring it speculatively will be expected to pay the costs themselves.
Some experts suggest that health insurers may be justified in their policy reasoning. Dr Marisa Weiss, an Ardmore, Pennsylvania breast cancer oncology specialist, told The Guardian newspaper that while she anticipates the interest level in genetic testing to soar due to Ms. Jolie’s example, in many cases it would not be an appropriate choice, given that only 29% of cancers in women originate in the breast, and only a small percentage of women carry high-risk single genes such as BRCA1.
In a New York Times op-ed, medical oncologist and University of Southern California professor of medicine and engineering David B. Agus observes that only one in about 400 women carry mutations to BRCA1 or BRCA2, with such hereditary defects implicated in between 5 percent and 10 percent of all breast cancers, and the majority of the 230,000 breast cancer cases of diagnosed annually in the United States aren’t related to those genes.
However, Michelle Andrews cites professor of Clinical Cancer Prevention and Medical Director of the University of Texas MD Anderson Cancer Center in Houston’s medical director Dr. Therese Bevers, who also chairs the National Comprehensive Cancer Network’s guideline panels on Breast Cancer Screening and Diagnosis and Breast Cancer Risk Reduction, saying that clinicians generally recommend a highly sensitive MRI test to screen for breast cancer if a woman’s lifetime risk is 20 percent or higher, and that “sometimes insurers don’t accept that….There’s no one standard. Each plan seems to differ.”
Dr. Bevers was the MD Anderson co-principal investigator on the groundbreaking Breast Cancer Prevention Trial which demonstrated that tamoxifen reduced the risk of developing breast cancer by one half, and the STAR trial which showed that raloxifene had similar benefits but fewer risks. She was also the principal investigator at MD Anderson for a study investigating whether polyphenon E, an active substance of green tea, benefits women at increased risk for breast cancer, and is investigating the potential role of Vitamin D in breast cancer prevention.
“For me, the driving factor is that a lot of communities and community physicians don’t always understand the risks that people have for cancer,” Dr. Bevers commented in the UT Anderson Center’s Winter 2011 Annual Report, adding that “Cancer screening is not one-size-fits-all. Our risk-based recommendations are markedly more personalized and precise, offering more detailed guidance than what has previously been made available.”
A report by OncoLog’s John LeBas notes that the heterogeneous nature of cancer has come to be better understood, the “average risk” concept has become an inefficient and outdated paradigm for cancer screening, and that in responding to this change, specialists at The University of Texas MD Anderson Cancer Center are redefining the institution’s practices for cancer screening, developing guidelines that focus on individual risk rather than average risk.
In the article, LeBas cites Dr. Bevers observing that “We can now define risk of cancer much more precisely, so that individuals and their physicians can make better decisions about when to start screening, when to stop screening, and what cancers to screen for,” with revised guidelines taking into account the fact that not all people have a similar risk of developing a particular cancer — even groups of people who, for example, have a similar age or family history of cancer. The revised guidelines also address the problem of overscreening (unnecessary or excessive testing of patients at a low risk of cancer). “Cancer screening itself burdens the patient with risks,” Dr. Bevers comments. “We always want to be sure the benefits of screening outweigh the risks, and our revised guidelines should help us do a better job of that.”
Dr. Bevers was instrumental in helping develop MD Anderson’s Cancer Risk Check, an online survey and risk check tool. MD Anderson’s cancer screening guidelines are available in two formats, one designed for the general public and one designed for physicians. The general public versions can be accessed at http://www.mdanderson.org (navigate to the “Cancer screening Guidelines” hyperlink on the homepage), while more detailed guidelines intended for physicians can be accessed through myMDanderson (visit http://myMDanderson.org to log in or create an account).
Kaiser Health News’s Michelle Andrews notes that while federal law requires coverage of breast reconstruction for insured women following a mastectomy, and The Affordable Care Act says patients can receive preventive services aimed at high-risk individuals without paying anything out of pocket, which services are covered remains unclear. The Women’s Health and Cancer Rights Act (WHCRA), signed into law on October 21, 1998, contains protections for patients who elect breast reconstruction in connection with a mastectomy. For plan participants and beneficiaries receiving benefits in connection with a mastectomy, plans offering coverage for a mastectomy must also cover reconstructive surgery and other benefits related to a mastectomy. The WHCRA Applies to group health plans, health insurance companies or HMOs, if the plan or coverage provides medical and surgical benefits with respect to a mastectomy. Mastectomy benefits must include coverage for: reconstruction of the breast on which the mastectomy was performed, surgery and reconstruction of the other breast to produce a symmetrical appearance, and prostheses and physical complications at all stages of mastectomy, including lymphedemas.
Under WHCRA, mastectomy benefits may be subject to annual deductibles and coinsurance consistent with those established for other benefits under the plan or coverage, and the law also contains prohibitions against plans and issuers denying patients eligibility or continued eligibility to enroll or renew coverage under the plan to avoid the requirements of WHCRA. Group health plans, health insurance companies and HMOs covered by the law must notify individuals of the coverage required by WHCRA upon enrollment and annually thereafter.
A study published in the Journal of Clinical Oncology entitled “Increasing Use of Contralateral Prophylactic Mastectomy for Breast Cancer Patients: A Trend Toward More Aggressive Surgical Treatment” co-authored by Todd M. Tuttle, MD, University of Minnesota, Department of Surgery, Division of Surgical Oncology and colleagues notes that many patients with unilateral breast cancer choose contralateral prophylactic mastectomy to prevent cancer in the opposite breast, and concludes that prospective studies are needed to understand the decision-making processes that have led to more aggressive breast cancer surgery.
A related issue currently being considered by the U.S. Supreme Court is gene patenting, specifically on the viability of the BRCA1 patent. Salt Lake City-based testing firm Myriad Genetics (MYGN) holds the patent on the test Ms. Jolie had done leading to her decision for surgery, which allows them substantial control over the price of testing.
A lawsuit filed in 2009 by the American Civil Liberties Union (ACLU) and the Public Patent Foundation (PUBPAT) challenges corporate ownership of human genes, arguing that corporations should not be able to patent human genes for profit while stifling scientific research into those genes, and charges that patents on the BRCA1 and BRCA2 genes are unconstitutional and invalid. On November 30, 2012, the Supreme Court agreed to hear arguments on the patentability of human genes in Association For Molecular Pathology v. Myriad Genetics, with the ACLU arguing its case before the high court on April 15, 2013, and a decision expected this summer.
The ACLU contends that that human genes should be patentable because they are classic products of nature. The ACLU/PUBPAT suit charges that the gene patents violate the U.S. Constitution’s First Amendment and moreover inhibit diagnostic testing and research that could lead to cures as well as limiting women’s medical care options.
Myriad Genetics argues that because of the incentives provided by patents, companies invest millions of dollars in clinical studies that are essential for obtaining insurance coverage, implying that should the Supreme Court rule in the ACLU/PUBPAT’s favor, it would set a precedent that could dismantle the profitability of the human gene patenting industry.
However the ACLU/PUBPAT and others have argued that since a mutation is something inherent to their DNA, individuals should have the freedom to receive testing for any DNA mutations they may carry on an open market among testing labs, like Houston-based Gene By Gene, Ltd., which says it can process BRCA1 and BRCA2 testing for less than a third of the cost of what Myriad Genetics now charges, but is currently rendered unable to contribute to wider access to this test with concomitant significant reductions in health insurance costs that would result. If granting patents to specific mutations is upheld by the Supreme Court, it can be anticipated that costs to individuals or insurers will remain higher, inevitably dissuading or preventing some people from being tested for purely financial reasons.