The following letter was submitted by FORCE, members of our board of directors, and our medical advisory board in support of the recently introduced legislation known as the EARLY Act. We are collecting names of people interested in signing on to the letter endorsing EARLY. If you would like your name added to this letter as a supporter of this legislation, please email us at: [email protected] and put EARLY in the subject heading.
H.R. 1740, the Breast Cancer Education and Awareness Requires Learning Young (EARLY) Act of 2009 was introduced by Representative Debbie Wasserman Schultz (D-FL), a young breast cancer survivor who carries a BRCA2 mutation. With over 300 co-sponsors, this bill proposes a nationwide awareness and support campaign for women age 45 and under, including women who are at high risk for breast cancer or are breast cancer survivors, and their doctors. The efforts proposed under EARLY will be guided by experts from the Centers for Disease Control and Prevention. The proposed EARLY legislation will increase awareness of the hereditary aspects of breast cancer and inform individuals who may be predisposed to the disease about the benefits of genetic counseling, testing, and risk management options. It will also provide resources and support for young women with breast cancer.
Facing Our Risk of Cancer Empowered (FORCE), the only national nonprofit organization devoted to people and families affected by hereditary breast and ovarian cancer, and the undersigned scientists and health care professionals endorse the EARLY Act. We believe it provides much-needed support for young high-risk women and young breast cancer survivors who belong to the community we serve.
The bill is timely and important because it will provide resources and knowledge for currently underserved populations. Most breast health awareness campaigns focus on women who have an average risk (about 12% by age 70) for breast cancer. These campaigns provide critical education about risk and detection to save lives. The EARLY Act provides similar resources for an often overlooked population: those whose lifetime risk may be extraordinarily high, up to 87%, due to genetic mutations such as BRCA1/2, or other predisposing factors. These high-risk women face a disproportionate cancer burden. Their cancers tend to develop at a younger age, sometimes occurring in their 20s or 30s when they are less likely to undergo surveillance. Their cancers are often found at a later, less curable stage. Interventions such as genetic counseling and testing, and risk management options can lower the risk for breast cancer diagnosis and cancer mortality in those with hereditary breast cancer risk.
Young women with breast cancer have unique circumstances. They face greater risk for second cancers, concerns about fertility, and cancers that are more likely caused by a hereditary mutation, which increases the likelihood that their risk may be shared with other family members and passed on to their children. Education of women and their families who are in this situation is key to achieve adequate prevention of cancer in these highest risk groups.
Educating health care providers is also vital, because many do not sufficiently understand genetics or the unique needs of their young patients. In fact, a recent study presented at the American Society of Clinical Oncology 2009 annual meeting found, “less than 25% of oncologists report referring patients for fertility preservation and only 38% report knowledge of the ASCO guidelines suggesting oncologists should discuss fertility preservation, and refer all patients of childbearing age.”
Other research supports the importance of the EARLY Act. At the annual meeting of the American Society of Breast Surgeons, Duke University researchers demonstrated that breast self exam (BSE) can detect new breast cancer in high-risk women, stating, “Our results provide evidence that BSE should not be abandoned as an adjunct for breast cancer education, as well as a surveillance tool for high-risk women.” A second study from Harvard found 71% of women diagnosed with breast cancer at age 40 or younger discovered their breast cancers by self exam. Most had never had a mammogram at the time of their diagnosis. The women were rarely offered genetic testing even though half of them had a family history of breast cancer and all qualified for referral for genetic counseling and testing based on published guidelines. Researchers concluded, “These results underscore the importance of identifying young women who are at high risk, performing appropriate genetic testing and delivering appropriate mammographic and MRI screening.” While the optimal use of screening and prevention tools in young women remains unresolved, the EARLY act supports additional research that will ultimately provide the basis for breast cancer prevention in young women.
There is broad support for increasing resources for young women with breast cancer and for educating healthcare providers about women who are diagnosed with or at high risk for breast cancer at a young age. Despite these areas of agreement, a number of respected leaders in the breast cancer community have voiced some concerns regarding specific aspects of the public awareness campaign.
Dr. Brawley, from the American Cancer Society, states: “It [The bill] calls for an advisory committee with expertise in every discipline having to do with breast cancer except public health and screening.” Dr. Leslie Bernstein voiced the concern that, “Recommending breast self-exam will cause fear, false-positive results of various screenings, unneeded biopsies, and mistrust of the medical establishment.” It’s important to note that all the awareness and educational efforts proposed under EARLY will be designed and performed under the direct supervision of public health experts from the Centers for Disease Control and Prevention, and that these concerns will be taken into consideration by the expert panel that will be convened to develop the recommendations.
Dr. Brawley notes another concern: “If implemented, a number of women will seek genetic testing and find out that they have ’mutations of unknown significance.’ Some of these women will seek a bilateral mastectomy. Many of these women will in reality have mutations of no significance, but our science cannot determine most of these yet.” Less than 7% of genetic testing results in “variants of uncertain significance”, and this proportion is decreasing as more information about BRCA1 and BRCA2 mutations becomes available. While Dr. Brawley is correct that the misinterpretation and misuse of genetic testing may have negative consequences, an important focus of the EARLY Act is to provide resources and education on the appropriate use of genetic testing and the importance of involving genetic experts for genetic counseling prior to genetic testing. Professional standard-of-care guidelines for genetic testing included in the legislation emphasize genetic counseling be provided before and after genetic testing to ensure tests are ordered appropriately, interpreted correctly, and results are properly explained to patients. In fact, educating health care providers and young women about the genetic expertise available, and promoting standard-of-care guidelines will improve health care provider and consumer knowledge and lower the chances of inappropriate testing or inconclusive test results. Dr. Leslie Bernstein from City of Hope says, “Furthermore, we cannot screen young women genetically for BRCA genes except if they fulfill the extreme family history requirements.” The bill does not suggest screening all young women for BRCA. Instead, it will promote screening under optimal conditions and not haphazardly or without involvement of genetic counselors and other experts. In addition, it is important to note that any woman diagnosed with young-onset breast cancer, regardless of family history, meets published expert criteria for genetic evaluation for BRCA. As noted in the Harvard study cited above, most young breast cancer patients and many of their health care providers are unaware of these published guidelines.
The National Breast Cancer Coalition (NBCC) has also spoken against the bill and has historically opposed genetic testing for breast cancer risk beyond its use in research. The organization published a position statement about breast cancer risk assessment that says, “Our current knowledge of risk factors is of limited use to individual women. If we want to help individual women, we need to find something that is guaranteed to prevent every woman from ever getting breast cancer, and that does not increase the risk of other illnesses. So far, we have not found a real prevention for breast cancer.” Dr. Susan Love stated “A diagnosis of breast cancer in a young woman is never welcome but this bill takes the wrong tack. It assumes that we have some knowledge of risk factors, methods of early detection and understanding of genetics that do not currently exist. Eighty percent of young women who are diagnosed with breast cancer have no known risk factors. This means that we do NOT know the cause of breast cancer or what the real risk factors are...there is very little known about what puts a woman at avoidable risk of breast cancer at any age. We do not know how to prevent breast cancer. What is really needed is more research on what the cause and prevention of breast cancer really is.”
Dr. Love and the NBCC are correct that more research is needed toward the cause and prevention for women who do not have an inherited predisposition to cancer. It is equally important to apply the means we already have to identify women who are at high risk and save the lives we can. However, one set of needs should not eclipse the other, and we strongly believe that the important goal of preventing breast cancer in all women should not have to conflict with the achievable goal of preventing cancer in a small segment of the population. As noted above, prevention is possible in young women with BRCA mutations. While this group of women represents a small proportion of the population, it is critical that we do everything we can to prevent occurrence of death from cancer in those groups where it can be achieved. That means utilizing the cancer risk assessment and prevention methods we already have available to us and to support research that will improve these approaches. The hereditary cancer community and the community of young women with breast cancer should not be dismissed because they represent a small group or because we do not yet know how to prevent cancer in the rest of the population.
We recognize that the bill focuses on a subset of the population: those who are in the highest known risk category and those diagnosed at a young age. Young women who have an inherited risk for breast cancer and/or have already been diagnosed have unique and unmet needs for information, support, resources, and health care expertise. This bill will apply and improve what we know about breast cancer, risk and prevention in young women in order to save lives. Endorsing the EARLY Act is the best first step in addressing these needs.
Sue Friedman
Executive Director
Facing Our Risk Of Cancer Empowered
Rebecca Sutphen, MD
Victoria Seewaldt, MD
Ora Gordon, MD, MS
Banu Arun, MD
Wendy Rubinstein, MD, PhD
Timothy Rebbeck, PhD
Jill Stopfer, MS, CGC
Anna Newlin, MS, CGC
Scott Weissman, MS, CGC
Shelly Weiss, MS, CGC
Kristen Vogel, MS, CGC
Christina Selkirk, MS, CGC
Elsa Reich, MS CGC
Kelli Mayfarth, MS, CGC
Sara Pirzadeh, MS, CGC
Maude L. Blundell, MS, CGC
W. Andrew Faucett, MS, CGC
Judy Garber, MD, MPH
Ellen Matloff, MS, CGC
Heather Hampel, MS, CGC
[3] National Survey Of Physicians Practice Patterns: Fertility Preservation And Cancer Patients, G. Quinn, S. T. Vadaparampil, P. Jacobsen, J. Lee, J. Lancaster, G. Bepler, D. L. Keefe, T. L. Albrecht , J Clin Oncol 27:18s, 2009 (suppl; abstr CRA9508), presented orally at ASCO annual meeting, May 2009. http://www.abstract.asco.org/AbstView_65_33118.html
[4] Breast Self-Examination: Defining a Cohort Still in Need, Lee Wilke, Gloria Broadwater, Sarah Rabiner, Elizabeth Owens, Tracey Grant, Sora Yoon, Sujata Ghate, Victoria Scott, Ruth Walsh, Jay Baker, Mary Scott Soo, Catherine Ibarra-Drendall, April Strouder, Stephanie Roberston, Abbey Barron, Victoria Seewaldt, American Society of Breast Surgeons, presented as a poster presentation at ASBS annual meeting, April 2009.
[5] Diagnosis of Breast Cancer in Women Age 40 and Younger: Delays in Diagnosis Are Common Due to Underutilization of Genetic Testing and Breast Imaging, Srila Samphao, Amanda Wheeler, Elizabeth Rafferty, James S Michaelson, Michelle C Specht, Michele A Gadd, Kevin S Hughes, Barbara L Smith, American Society of Breast Surgeons, presented at ASBS annual meeting, April 2009.
[6] BRCA1 and BRCA2 Mutations in Women of Different Ethnicities Undergoing Testing for Hereditary Breast-Ovarian Cancer, Michael J. Hall, MD, MS, et. al. Cancer, 115(10):2222-33, May, 2009.
[7] National Breast Cancer Coalition Fact Sheet: Breast Cancer Risk: What Does It Mean? http://www.stopbreastcancer.org//index.php?option=com_content&task=view&id=661&Itemid=178