The community speaks out! Your thoughts on the USPSTF breast screening guideline changes.

Newly-recommended changes for breast cancer screening by the United States Preventive Services Task Force (USPSTF) are getting a lot of attention and proving to be controversial. The task force:

• Recommended against screening mammography for women ages 40–49.
• Recommended screening mammography in women older than 50 be performed  biennially rather than annually.
• Recommended against teaching or performing Breast Self Exam (BSE) at any age.

FORCE disagrees with these screening guideline changes and believes they will cost lives, lead to confusion, worsen already existing health care disparities, make it more difficult for women to weigh the benefits and risks of screening for themselves, and make it more difficult to get insurance reimbursement for screening.  We strongly encourage the government and health care community to ensure that all women have access to risk assessment expertise and tools that allow them to understand their personal risks make informed decisions about their care.

The USPSTF recommendations specifically apply to women of average risk, but these changes will also detrimentally affect members of the high-risk community we serve.

FORCE has published a statement on these guidelines which we are asking our community to read. If you agree with our statement you can also sign our petition and provide us with feedback on your personal experience and let your voice be heard.

Because of underutilization of genetics experts and risk-assessment tools, many people learn about their high-risk status only AFTER THEY ARE DIAGNOSED with breast cancer, detected either by mammogram or breast self-exam.  For this segment of our community, access to surveillance is critically important; these guideline changes will needlessly cost lives.

The following personal experiences from members of our community  reinforce our position. Many individuals indicated that their high-risk status was not identified until after a diagnosis.  Without access to breast screening their cancer would have likely been discovered at a more advanced stage and they may not have survived.

 “My breast cancer was found on a mammogram at age 33.  I only began having mammograms after finding a lump on breast self exam. There was no family history of breast cancer or anything to indicate that I was high risk until after my diagnosis.  Subsequently I learned that I had a BRCA2 mutation.”

“When I was in my 20s I was not considered high risk and was told to watch and wait to see what happened with a lump I was concerned with.  Thankfully it was nothing.  However, today I am considered high risk due to a [mutation in] BRCA1 and I am eligible for screening. I am the same person with the same genetic background but the recommended course of action varied with the label.  How many women in their 40s are there like me?”

 “I found my own lump at the age of 33 via breast self exam.  This quite literally saved my life.  I subsequently learned that I am BRCA1–but had no known family history of breast or ovarian cancer beyond a paternal grandmother who died before I was born.  Without having done this routine self exam, I would not have found the lump when I did.” 

“My 47-year-old sister was diagnosed by mammogram with breast cance;, tumors appearing in both breasts.  We have NO family history, therefore she was being screened based on recommendations that women in their 40s start mammograms.  We have since found out our family carries the BRCA2 mutation.”

“With no close family history of breast cancer, I was 41 and going through fertility treatment.  I had no idea that I might have a genetic mutation that would cause me to have breast cancer.  I decided to get a mammogram before being implanted with embryos.  It was that mammogram that found a 2.5cm tumor in my right breast.  Even the surgeon said that she wouldn’t have found it if it hadn’t been for the mammogram.  If I’d been forced to wait until I was 50 for this test, I would be dead now.”

“My aunt was diagnosed with breast cancer at age 42. Her sister was diagnosed in her 50’s. We now know we carry the BRCA 2 gene mutation, but we didn’t know when my aunts were diagnosed. How many high risk people, who don’t know they are high risk, will get cancer at a young age and have it go undetected because they didn’t have routine screenings if policies change?”

One task force concern was that women ages 40-49 who are routinely screened are more likely to undergo multiple biopsies which are usually negative. Yet many women, particularly those in the FORCE community, feel that the risk of missing a single breast cancer far outweighs the risk of potential additional biopsies. Here are some additional comments from our members:

“I am appalled at the suggestion that it is too stressful for women to deal with false-positives—I had a false positive and the “stress” was (1) better than finding out that it was not a false-positive and (2) worth the life of that one woman in 1900. We do not have to be protected from too much “stress” by this panel or anyone. What we need is to continue lowering the breast cancer death rate.”

“As high-risk women we know anxiety well and find a way to deal with it. Let US decide what anxiety we want to deal with. I’d rather have anxiety and be screened than live in ignorant (but possibly deadly) bliss.”

“Ever not been anxious over a mammo or a biopsy? But, I would rather be anxious about results than to trust that I won’t be one of the 1 out of 1900 women whose BC is missed by having no mammo[gram]. How many people here have died from anxiety? And how many have died from undetected breast cancer?”

“Years before I was diagnosed with breast cancer, I had a biopsy that was negative. The stress of the biopsy was nothing compared to the anxiety I felt after my diagnosis of breast cancer. For me, I would trade the stress of biopsies to assure that any cancer was caught early.  I am glad that I was able to make that decision for myself.”    

Your stories reinforce what we already know: mammography in young women does save lives. We must apply all the means we have to save as many lives as we can. Even the task force agrees that the research shows that mammograms save lives.  However, their conclusion is that the cost/benefit ratio doesn’t justify continued screenings for women ages 40-49 orannual screenings for women after age 50. Your stories tell the personal stories of women diagnosed young, and women diagnosed with aggressive cancers that would have progressed had these new guidelines been in practice. 

“My stage 2A breast cancer was caught on a routine SCREENING mammogram when I was 44.  I had no lump that I could feel, yet the tumor was 3.2 cm.  My OB/GYN did not feel the lump during a clinical breast exam 4 months prior to the mammogram. I do not have a BRCA gene mutation, and the genetic counselor said my risk of getting breast cancer was no higher than that of the general population.”

“I was diagnosed with high-grade DCIS by routine mammogram.  I am 47 years old and would fall out of the guidelines. I cannot imagine what would happen in those 3 years.  A mammogram is such a noninvasive relatively inexpensive test that can be a lifesaver.”

 “I was diagnosed with breast cancer found in my baseline mammogram.  I did not know that I carried the BRCA2 mutation that predisposes me to cancer.  Had these guidelines been the standard at that time, I doubt I would be a 10-year breast cancer survivor.  Scientific findings are one thing, but I am the 1 in 1900 who did have breast cancer found on a mammogram before the age of 50.  I shudder to think what might have happened to me if insurance plans were following guidelines such as the ones presented by the USPSTF.”

 “My breast cancer was caught by a mammogram at age 47; my sisters at age 40.  Because of mammography, our cancers were caught early.”

“My premenopausal breast cancer was caught early on a mammogram.  And although it was mostly DCIS, there was an invasive component to it and it was in my lymph nodes. Had my diagnosis been delayed even a year, it likely would have spread beyond lymph nodes.”

The task force concluded that the harms of breast self exam outweigh the benefits in women of any age.  Once again we disagree with their conclusion. Your stories have validated our concern with these guideline changes. We believe that breast self exam can help identify breast cancer and likely saves lives.

“My breast cancer was stage 1 because I caught it via BSE at age 36. My gynecologist had performed a clinical breast exam just 6 weeks prior to my finding the lump, and found nothing. I am absolutely sure that BSE saved my life.”

 “I had a breast exam by a doctor in my annual exam, a few months before I found a 2.5 cm lump myself, undetected by the doctor. My self exam saved my life, I had a very aggressive and fast-growing cancer. Had I waited until my next annual exam for a doctor to check for lumps, I’m sure my cancer would have spread.”

“I was 52 when I discovered a lump doing a breast self exam.  I had a mammogram just 3 months before.  I know many women in their 40s who have been diagnosed with early -stage breast cancer. If not for self exams and mammograms, they might not be here today.”

“Self exam discovered aggressive BC between mammos at age 40.  Because I had been getting mammograms, I was aware and doing self exams.  Mammos and self exam saved my life.”

“I found my own lump at the age of 33 via breast self exam.  This quite literally saved my life.  I subsequently learned that I am BRCA1–but have no known family history of breast or ovarian cancer beyond a paternal grandmother who died before I was born.  Without having done this routine self exam, I would not have found the lump when I did.  Mammography subsequently showed the presence of an additional, deeper tumor in the same breast.  I am LUCKY to be alive today –and if I had not found the lump through self exam, I would not be here.”

“I was 24 when I did a self exam and found a 3cm tumor of aggressive breast cancer. Breast self exams are EXTREMLY important for women of all ages.

The task force review of risk/cost/benefit for breast cancer screening highlights the need for better, more effective breast cancer screening, the importance of better utilization of risk-assessment tools currently available, and the need for more research on risk factors, screening, and outcomes. Considering current concerns about  health care costs, guideline reviews and changes like these mandate that we do a better job in assessing women’s risk for breast cancer to more effectively allocate resources. In an age where more personalized medicine is within our grasp, we should strive to replace sweeping one-size-fits-all recommendations with better risk assessment and appropriate screening recommendations based on risk.  For those found to be in average or lower-risk categories—until risk assessment is an exact science—each individual should have access to credible and balanced information and be allowed to weigh the benefits and risks and decide what makes sense for them.

Direct-to-consumer genetic testing: the latest FORCE testimony to SACGHS and FDA feedback

Recently FORCE submitted testimony to the Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) about our continuing concerns about the need for government oversight of the marketing of genetic tests to consumers and health care providers.  Below is an excerpt from our testimony.

Dear Distinguished members of the committee, I represent the lay advocacy group, Facing Our Risk of Cancer Empowered (FORCE), a national 501(c)3 nonprofit organization whose mission is to improve the lives of individuals and families affected by hereditary breast and ovarian cancer. I am here to follow up on the testimony presented last year to this committee by Dr. Sue Friedman, our Executive Director and present our mounting concerns about the unrestricted marketing that is being used by genetics laboratories and specifically Myriad Genetics. I would like to share with you how these actions are impacting members of the community that we serve. As Sue Friedman testified at the last meeting, based on what we have witnessed it is our opinion and belief that Myriad’s sales representatives discourage doctors and other health care providers from referring patients to genetics experts.

In the past, Myriad has denied use of such a strategy, and when presented with our concerns their Vice President of Marketing dismissed them as the work of a few “rogue” sales agents. However, in a recent publication, Myriad CEO Peter Meldrum was quoted as saying that Myriad’s sales force “provides doctors [with] the tools to do counseling” in-house, and as a result, physicians can bill insurers directly for the service.”

The same report stated that:

“Helping doctors to set up genetic counseling services in their own practices is a priority for the Myriad sales team, which is currently 300 reps strong, ahead of a direct-to-consumer effort in a particular geographic region. The company has carried out DTC ads in the Northeast and the Midwest, and is continuing marketing efforts in the South. According to Meldrum, sales representatives educate doctors and nurses about who should be tested on BRACAnalysis and how to handle patients’ questions about genetic risk. Also, the company’s sales reps attempt to reach doctors and show them DTC ads for BRACAnalysis ahead of its television airing in a particular locale, so they can be more prepared when patients come into their offices asking about the test.”

Having reviewed Myriad’s education materials for health care professionals, we are concerned that they focus only on the hereditary syndromes for which the lab markets a test. Unfortunately, we believe these materials are misleading and in many cases they are the only information many health care providers—particularly those being targeted by the company—receive about cancer genetics. This means that patients who might meet criteria for other hereditary syndromes (for which Myriad does not test) are not always receiving comprehensive or accurate information because their health care providers are not genetics experts and are unaware of these other syndromes. By encouraging health care providers with limited genetics expertise to provide “in-house counseling” and order testing, it is our opinion that Myriad is establishing a minimum competency for providing genetic information to patients which falls below published national expert guidelines. The lab is establishing a body of health care providers who, rather than practicing medical genetics, are trained to market BRCA testing for the company that manufactures the test. They have also begun to train a body of patients who have undergone genetic testing to act as “patient advocates” to speak out in favor of genetic testing on Myriad’s behalf. Unchecked and unregulated, Myriad has unrestricted access to providing consumers both directly and through their health care providers with unbalanced, biased information about genetic testing for hereditary cancers.

We have heard from health care providers untrained in genetics who have admitted that they have consulted with Myriad staff when determining appropriateness of genetic testing rather than consulting with a genetics expert unaffiliated with the lab, and rather than referring the patient. We feel that this is a clear conflict-of-interest: consulting with a company employee is not the same as referring a patient to a specialist not affiliated with or employed by a lab with a financial incentive for selling tests. This is another way the genetic counseling process that is a national standard-of-care is being bypassed.

Following up on prior testimony, we are continuing to hear from people who have been tested without benefit of genetic counseling and receive results from doctors or nurses who have no understanding of the significance of test results. We are also learning of many incorrect or inappropriate tests ordered at significant expense to the consumer and/or their insurance company. In some cases tests are being ordered without insurance company pre-approval and individuals learn they do not meet insurance criteria only after they have already paid for testing.

Since no regulatory body monitors or regulates the marketing of tests through CLIA-approved labs, and no entity documents reports of adverse events, we have no way of knowing just how many people are harmed every day by inappropriate genetic testing. Standard medical practice calls for a referral to a specialist when specific expertise is required. Most physicians know to refer someone with a heart murmur to a cardiologist, for example, and to send a patient with a corneal laceration to an ophthalmologist. Despite published guidelines that outline genetic counseling prior to BRCA testing as standard-of-care, because much of the general population is unaware of the existence of genetics experts, and health care providers are being discouraged from referring patients, consumers have no way of knowing that they are receiving substandard care and have no venue for registering complaints.

We urge the Secretary’s Advisory Committee on Genetics, Health and Society to recommend federal action to monitor, regulate, and track adverse events resulting from marketing by laboratories to both consumers and health care professionals, and to require doctors to know about, inform patients about, and refer patients or provide them access to standard-of-care genetic counseling prior to ordering genetic testing for a patient. Thank you.

Since our testimony, we have heard from an FDA representative encouraging the reporting of cases where genetic testing without prior genetic counseling led to emotional or physical harm.  These cases can be submitted through the FDA’s MedWatch online reporting portal.  Consumers, advocacy groups, and health care providers are encouraged to submit these cases to the FDA.  Health care providers and advocates submitting reports on a patient’s behalf should use initials or a first name only to assure HIPAA compliance and/or patient privacy.   FORCE will submit cases on behalf of consumers who wish to file a report but wish to remain anonymous.  Please contact us at: info@facingourrisk.org and put MedWatch in the subject heading.

FORCE and Health Care Community Letter in Support of the EARLY Act

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: info@facingourrisk.org 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.[1]^,[2]

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.”[3]

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.”[4] 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.”[5]  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”[6], 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.”[7]   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

 

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[1] Bilateral Prophylactic Mastectomy Reduces Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: The PROSE Study Group, Timothy R. Rebbeck, et. al. Journal of Clinical Oncology, Vol 22, No 6: pp. 1055-1062, March 2004.

[2] Mortality after bilateral salpingo-oophorectomy in BRCA1and BRCA2 mutation carriers: a prospective cohort study, Susan Domchek, et. al. Lancet Oncol. Volume 7, No. 3:223-9, March 2004.

 

[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

Supporting Those Who Support Us

Supporting Those Who Support Us

Like other nonprofit organizations, FORCE seeks partnerships with those who support our mission and community. Corporate donations are essential if we are to continue our lifesaving mission of helping individuals and families affected by hereditary cancer.  But it is not always easy. Funding is competitive, and many businesses choose to support only the most well-known causes.  In this frugal economic landscape, hereditary cancer is sometimes overlooked. That’s why we are pleased and honored to announce our newest corporate partnership with HoneyBaked^â. From now through Mother’s Day (May 10) a portion of the proceeds from every Half Ham sold in 51 HoneyBaked^â stores in seven states will be donated to FORCE. For a listing of participating retailers, please visit http://www.facingourrisk.org/how_to_help/campaigns/Honey_Baked_Ham.html.

Our mission is unique and the community we serve is important.  Our members consist of a subset of the cancer community—about 7-14% of all people diagnosed with breast and ovarian cancer. We also encompass a much larger group of people who have not had cancer but are high risk by virtue of their genes. And because hereditary cancer affects multiple generations, often at a younger age, and can strike the same person with more than one cancer diagnosis, our members face a disproportionately heavy cancer burden.   So when a company chooses FORCE as the beneficiary of their cause marketing campaign it is noteworthy and deserves our attention. 

FORCE is unique in other ways.  Our community is affected by both breast and ovarian cancer, so our efforts equally emphasize both.  We focus on topics on the cutting edge of cancer research and care.  Cancer genetics, personalized medicine, targeted therapy and cancer prevention are all areas of interest to our community.  FORCE changes lives by alerting our community to the most up-to-date information, resources, and research in cancer detection, risk assessment, prevention, and treatment. Help us continue to make a difference by patronizing companies that support us (and let them know you’re supporting them because they’re supporting us).  For a list of other corporations that support FORCE visit http://www.facingourrisk.org/how_to_help/corporate_partners.html .

Comments Submitted to the Secretary’s Advisory Committee on Genetics Health and Society

Yesterday I had the honor of being asked to submit public commentary to the Secretary’s Advisory Committee on Genetics Health and Society.  This committee reports to the Secretary of Health and tackles the emerging and challenging issues being faced as genetic research expands at a rapid pace.  The committee seemed very interested in my statement and members of the committee had positive comments about FORCE and the role we play as an organization advocating for people and families affected by hereditary cancer.  Unfortunately even with a growing number of genetic tests becoming available, there are large regulatory gaps that allow tests that have not be validated to be marketed to consumers without any governing agency overseeing the information being transmitted to consumers.  This is very different from the situation with pharmaceutical agents where the FDA has a role not only in determining what medications are available, but also in overseeing what manufacturers can say about their products, how they are marketed, and in tracking adverse events caused by the product.

Below is a summary of the comments I presented.

 

“I thank the Secretary’s Advisory Committee on Genetics, Health, and Society for inviting me to present comments.  I’m founder and Executive Director of the national nonprofit organization Facing Our Risk of Cancer Empowered (FORCE), an organization devoted to improving the lives of individuals and families affected by hereditary breast and ovarian cancer.  Part of our mission includes advocating for the health and wellbeing of our community affected by these cancers. The goal of my testimony is to alert the SACGHS of a growing issue regarding genetic testing that seems to be increasing in frequency and is taking a toll on the community that I serve and to remind you that people are making real-life decisions based on genetic test results.

 

Unfortunately, once a test is offered to the public, consumers assume and expect that the test has been validated, has gone through an FDA approval process, has clinical utility, and any marketing claims must be true.  The lack of government oversight on laboratory tests by CLIA-approved laboratories is leaving a large knowledge and regulatory gap that is being filled in by parties not necessarily acting in the best interest of consumers.  Lack of government oversight with regards to appropriate genetic testing and assuring access to genetics experts:

• Leads to wasted healthcare spending as inappropriate tests are ordered and improperly interpreted
• Leads to consumer harm as people are being given inappropriate or incorrect information about the meaning of a genetic test results
• Denies consumers information about standards-of-care and denies them the ability to report adverse events or circumstances

At FORCE we have begun to document adverse outcomes in cases where people were not given access to, nor made aware of the option of consulting with an expert in cancer genetics prior to testing. This includes cases where people were told their tests were negative when they were positive, positive genetic tests being disclosed to people while driving, full-sequencing genetic testing being ordered when a single-site test was appropriate, and a recent case where the wrong test was ordered leading a woman to believe she was BRCA negative, when she was actually BRCA positive. This particular woman chose a lumpectomy and radiation over mastectomy based on the negative test result. 

An alarming (but perhaps easily remedied) aspect of the situation is that the above situations can be linked back to actions and communications from the companies doing the testing:

• At more than one conference I listened as genetic testing company exhibitors presented to health care professionals that “you don’t need to refer a patient to a genetics expert first.  You can order the test and if they positive you can then refer them if they want.”
• At a professional society meeting for oncology nurses about genetic testing in physicians’ offices (which was sponsored and entirely moderated and organized by a genetics lab) one panelist held up an educational piece prepared by the sponsor and stated, “This is all you need to begin genetic testing in your practice.”  That particular piece only discussed the genetic tests that were offered by that lab and had no discussion on other genetic tests or hereditary conditions which might have been equally or even more appropriate for patients.
• Recently I participated in a panel and listened in shock as one panel member representing a DTC genetic testing portal boasted of how her company gives patients access to genetic tests that were not recommended by their physician and which they provide outside of standard-of-care recommendations.  It is unclear how a physician could interpret the off-label use of a test they didn’t think was medically necessary and how the patient might use such results to make medical decisions absent of any clear guidelines or supportive research. 
• At the same panel discussion on direct-to-consumer testing, one genetics expert in the audience likened this scenario to the proverbial “fox guarding the henhouse.” 

Government intervention and implementation of the following will help alleviate the problem:

• More oversight of, and at least one agency with jurisdiction over genetic tests and how they are marketed to consumers and physicians.  Consumer stakeholder input should be included if possible.
• Consumers need to know about and be given access to trained experts in genetics, and any published standard-of-care guidelines if available on the genetic condition in question. It should not be up to the laboratory to determine who is or is not competent to order and interpret genetic tests
• Laboratories need to be held accountable for their marketing materials for consumers and physicians with regards to genetic tests
• We need an agency to track adverse events with regards to genetic tests

It should not be up to the test developers to govern themselves or determine the appropriate amount of information, nor to designate the minimal competency for conveying this information.

Thank you for your time and attention.”                                                                                                

Improving access to genetic testing: involving a genetic counselor can help

I applaud the recent attention given to hereditary cancer, including Jessica Queller’s outstanding book, Pretty Is What Changes; Joanna Rudnick’s upcoming BRACumentary, In the Family; and Christina Applegate’s announcement of her BRCA status. Increasing BRCA awareness encourages people to educate themselves about the topic, and subsequently more people are considering genetic testing. Unfortunately, their initial inquiries about testing are not always met with credible information.

Calls to our tollfree helpline increase in direct proportion to media reports about BRCA. Consequently we are experiencing more requests about  financial assistance for genetic testing. Many of these calls are from individuals who have a family history of breast cancer and health insurance, but their insurance has denied covering genetic testing.

Ideally, people can often avoid insurance denials and high out-of-pocket costs related to testing by first meeting with a qualified expert in cancer genetics. When you consider the $3,000+ cost for “full-sequencing” BRCA 1 and BRCA 2 testing, where the entire gene is evaluated, it’s easy to understand why genetic testing is beyond the means of many people. However, under certain circumstances, a less extensive test may be more appropriate and can lower the price of testing by thousands of dollars. In other cases the choice of which member of the family receives genetic testing first can also affect cost and insurance coverage. Too often these helpline calls stem from an uninformed health care provider ordering the wrong test or not identifying the best first person in a family to receive testing.

A specially trained genetics expert will first assess an individual’s family medical history, determine which test is most appropriate, and identify which family member should be tested first. Seeing a health care provider specifically trained in cancer genetics—a genetic counselor—prior to genetic testing often makes the difference between having a test denied or covered by insurance. In fact, for people who meet specific National Comprehensive Cancer Network (NCCN) standard-of-care guidelines, many insurance companies, and even Medicare, will often pay for both genetic counseling and testing.

Until the cost of genetic testing goes down, for the uninsured, genetic testing usually remains out of reach, even for those who meet standard-of-care guidelines. Financial support is available, but limited. People who meet certain criteria and have annual income below the poverty level may qualify for testing under Myriad Genetics Laboratories financial assistance program. Another resource, the small nonprofit National Gene Test Fund, underwrites the cost for eligible people who can’t otherwise afford testing. Research studies involving genetic testing may also be an option for eligible individuals, although these studies are few and it may take months to get results. FORCE is compiling a searchable national database of medical facilities that offer free genetic counseling, testing and other services to individuals without insurance or whose insurance won’t cover the cost. If you work at such a facility, please register your resource here.

While the resources above are critical, they are not broad enough to reach most individuals who cannot access or afford genetic counseling and testing. Studies show that Hispanic, Black, and Asian Americans—people who are frequently medically underserved—are less likely than Caucasians to receive genetic counseling and testing.

And for the fortunate few who receive assistance for genetic counseling and testing, what then? Experts recommend annual mammograms and MRI for BRCA-positive women ideally beginning at age 25. What if women can’t pay for standard-of-care surveillance? One resource, the National Breast and Cervical Cancer Early Detection Program, provides free mammograms for women over 40. As limited as the financial assistance resources are for genetic testing, even fewer provide MRI for high-risk women at any age or for mammograms beginning at 25. Like most disparity issues in health care, the needs are many and existing resources are few. 

With these funding gaps in mind, I was ecstatic to hear that Christina Applegate intends to establish a foundation to provide financial assistance for genetic testing and MRI screening for high-risk women. Hopefully this will help close the disparity gap by improving access to genetic experts and standard-of-care surveillance for medically underserved high-risk women.

In the documentary, In The Family (which will air on PBS on October 1), producer and previvor Joanna Rudnick pointedly questions the high price tag on genetic testing. Discussions like this are an important step in order to address disparities in access to genetic technology.

Until the disparity and cost of testing issues are addressed, given that genetic testing is expensive, financial resources are limited, and not everyone has equal access to care, the best way to maximize the number of appropriate tests for both insured and underinsured people, is to involve genetic counseling with board-certified experts prior to the ordering of genetic tests.  

Visit the FORCE website to find a genetics expert near you and learn more about available financial assistance for genetic testing.

Try Walking in Our Shoes

I highly recommend In the Family for anyone who is interested in the issues facing our community. The “BRAC-umentary” by Joanna Rudnick of Kartemquin Films premiered at our 2008 annual conference and will air October 1 on PBS. In addition there are many planned community screenings of the film across the country. In 80 minutes, Joanna, a previvor with a BRCA1 mutation, gives a face and voice to our community, addressing the conflict, grief, loss, family dynamics and most of the issues and dilemmas we face.

One particular reviewer who attended a recent screening of the film in Los Angeles was critical of the personal choices discussed by Joanna. The reviewer’s tone implied that prophylactic surgery—removal of healthy breasts and ovaries to prevent cancer— should be the obvious and easy choice. 

Over the 11 years since I learned about my BRCA 2 mutation and the 10 years since I founded Facing Our Risk of Cancer Empowered (FORCE), I have read and listened in frustration to the criticism, simplification, and condemnation from individuals, the media, and even members of the advocacy community who do not understand, who polarize or trivialize the difficult choices, fears, and decisions we in our community face.  Realistically, the decision to undergo prophylactic surgery is deeply personal. Those who test positive for a BRCA mutation have many risk-management options, but none are made without sacrifice: surveillance with its potential “scares” and surgery and its potential complications and side effects. The appropriateness of any given alternative depends on several factors, including lifetime risk, actual risk at that moment, and a woman’s individual tolerance for each option. Prophylactic surgery, for example, is the most effective way to lower risk for those with a BRCA mutation, but it isn’t the right choice for everyone. 

Although mastectomy lowers the risk of developing breast cancer by about 90%, research has not yet shown that it improves long-term survival. This is due in part to the fact that many women survive breast cancer, and the fact that research involving prophylactic surgery has only occurred in the last 10-15 years. Giving up healthy breasts to prevent cancer is a tough decision amidst realistic concerns about side effects, major surgery, body image changes, risk for complications, loss of sensation, and a grief process that is often profound. Additional complex and highly personal issues, like the best time for testing and choosing appropriate preventive measures, face individuals who discover they have a BRCA mutation.

Reporters often ignore the personal anguish and difficulty of the decision-making process. Media stories about BRCA carriers have great potential to help those at high risk; yet all too often, accounts focus only on the sensational aspects of women at high risk, and fail to underscore how genetic experts help people sort through their risk management options. In the Family captures the essence of these critically important details. Based on five years of research and effort, this responsible film displays a care and sensitivity which has earned my endorsement.

Our community does not speak with one mind or voice.  We are a diverse group of individuals of women, men, survivors, previvors, supporters, and health care providers for whom the topic of hereditary cancer is important. Our members range across the spectrum of age, ethnicity, geography, and situation. FORCE unites us despite our differences, advocating for and meeting the information, resource, and support needs of those facing hereditary cancer. For those who criticize or minimize the struggles our community faces, I offer this advice:

Try walking in our shoes.

As we get closer to the airdate for In the Family, and as coverage of hereditary cancer and genetics increases, it is likely we will see similar negative commentary about the risks our community faces and the decisions that we make. Although I’m grateful that media attention will bring awareness of hereditary cancer, what our community doesn’t need is criticism or trivializing of the difficult decisions we face. We need more research, better options, and yes, more compassion. 

Everyone carries a genetic susceptibility to something, whether it’s to cancer, diabetes, heart attack, blood clots, Alzheimer’s disease, or stroke.  In the Family is not just about BRCA or hereditary cancer; it’s about issues and choices made possible by advances in personalized medicine that enables us to predict who will develop which diseases in their lifetime. Based on my experience, each new disease susceptibility test will be accompanied by an emerging set of issues for those who learn they are high-risk. Hopefully, for each disease there will be a community organization like FORCE championing the needs of that population, and a conscientious producer like Joanna to bring awareness to the disease and the issues the community faces.

For those whose knee-jerk reaction to In the Family is “just have surgery and quit whining,” or those who think that we should ignore these risks rather than carefully considering all our risk-management options including preemptive surgery, I repeat: try walking in our shoes. 

Guess what, with regard to genetics and disease, chances are that you already are.

 

Genetic Testing: Finding The Right Specialist Can Make A Difference

On a daily basis, we are hearing alarming stories about people having BRCA genetic testing under less-than-ideal situations. Increasingly, people are being offered inappropriate testing and are receiving their test results unaccompanied by proper information about their risk for cancer or their risk-management options. In general, these stories involve individuals who are tested at a physician’s office, when they should be referred to a board-certified genetic counselor or an equally qualified health care provider. These stories highlight the importance of meeting with a properly-trained genetics counselor prior to having genetic testing.

My concern is that non-qualified health care professionals ordering genetic tests will become the norm. Between consumers who are unaware of experts specifically trained in genetics and physicians unequipped with the knowledge about when to refer, people are being denied access to health care experts who are best able to help them make important health care decisions regarding cancer risk and prevention.

The National Comprehensive Cancer Network (NCCN) is a consortium of top cancer experts who develop consensus guidelines for cancer screening, prevention, and treatment. NCCN guidelines outline the criteria for determining if cancer in a family may be hereditary. For people who match the guidelines, the NCCN recommends referral to a genetics professional prior to genetic testing. Therefore genetic counseling is considered standard-of-care for those who have a family cancer pattern suggestive of hereditary cancer. BRCA testing without a full pre-testing counseling session (a typical session usually takes 60 minutes) that includes a three-generation pedigree (if available), a thorough discussion of the benefits and limitations of testing, and a list of risk management options, does not meet standard-of-care recommendations.

Like many other fields in medicine, genetics is rapidly evolving with new discoveries published daily. It is difficult for non-genetics experts to keep up-to-date on the latest information. And, although genetic testing may seem fairly straightforward, certain aspects of the process require specific training in genetics. Most doctor’s offices are not prepared to provide an hour-long appointment with an expert—a standard part of the counseling process.

Genetic counselors help individuals and families make informed decisions about genetic testing. These specially-trained experts provide education regarding genetics and heredity in a way that people can comprehend and use to make the best decisions about their risk. Counselors do not try to persuade people to have or avoid genetic testing; they discuss appropriate cancer screening, risk management, and follow-up care based on the most recent medical literature and individual risk. Because genetic counselors are also familiar with state and federal laws regarding information and discrimination, they can address common concerns about the privacy and confidentiality of personal genetic information.

The following discussions occur in a genetic counseling session prior to genetic testing:

• Reviewing family history of cancer, including information about family members who never developed cancer
• Assessing and explaining risk for hereditary cancers and/or the chance to detect a mutation through genetic testing
• Describing the benefits and limitations of genetic testing
• Describing available medical management options based on test results
• Discussing whether a person may benefit from genetic testing
• Determining which family member is the most appropriate to begin the genetic testing process
• Assisting with insurance submittals for genetic testing

The following discussions occur in a genetic counseling session when results are received:

• Interpreting genetic test results and explaining what they mean for individuals and their families
• Providing referrals to experts for follow-up screening and risk management
• Providing referrals to support resources and research opportunities (including research on genetic testing, screening, treatment, etc.)

Recently we heard from one young woman who received genetic testing in her doctor’s office. After waiting three months for her results, the woman finally called the office. The nurse told her, “Oh, your test was misfiled as normal by the doctor. The results are positive, and by the way, your risk for breast cancer is 87%.” The young woman was alone in her car at the time. This is not the ideal way to receive this information (nor is this the ideal information). Communicating genetic test results requires skill and knowledge. There is a huge difference between “lifetime risk” and a “likelihood of cancer at that moment.” A young woman in her 20s who has a BRCA mutation has less than a 5% chance that she has cancer at that moment. Certainly she will need to make risk-management decisions, but she should not be pressured into make urgent decisions, (especially given that her results have been available for two months or more). Communicating test results in such a hapless and insensitive manner when someone is unprepared to receive them robs people of credible and empowering information, resources, and a risk-management plan at a time when they most need to hear it.

Another recent case illustrates how problems can occur when inadequately-trained health care providers order testing. A different young woman was ordered a $3,000+ full-sequencing BRCA test by her doctor. However, because her father had a known mutation, the correct test for her would have been single site testing, at a cost of about $400! The woman’s mother said, “When my daughter received her positive results, the doctor didn’t seem to know if they were positive or negative. The doctor apologized for the wait, explaining that she was on the phone trying to get information about the results. I took one look at that analysis and knew the results immediately. I had seen the same positive results for my husband! My daughter needed testing only for BRCA1/2, but instead, they performed the more expensive comprehensive testing!”

Some critics assert that we do not have enough genetics experts in our country to provide services for those who need the information. This argument has been used to justify genetic testing in the primary-care setting. Yet, many of the horror stories that we are hearing of people who have been denied genetic counseling involve large cities where genetic counselors are readily available. And for those who can’t travel or prefer not to travel to see an expert, full genetic counseling with board-certified genetic counselors is available via phone through Informed Medical Decisions, a health care service that offers genetic counseling with board-certified experts.

It is not appropriate for physicians to order a test they don’t thoroughly understand, and then only refer patients if the results return with a mutation. A portion of people who receive genetic testing will have a result known as an “uninformative negative test.” These ambiguous results mean that the patient and/or her family may still be at high risk for cancer. In some cases the ambiguous test is a result of the incorrect test being ordered. If physicians only refer people who test positive for a gene mutation and only after the results are available, they deny the consumer the opportunity to understand what the test may mean prior to ordering the test. Additionally, a portion of people who actually are at high risk for cancer will be told that they are at normal risk because of a misinterpreted test result.

Currently no government agency regulates inappropriate genetic testing or testing without the benefit of genetic counseling. Just because doctors offer genetic testing does not mean they have the special training needed to provide genetic counseling, order the appropriate test and interpret the results correctly. Knowledge is our best protection. Anyone who is interested in learning if the cancer in their family is hereditary or anyone who is offered genetic testing from a physician has the right to insist on a referral to a genetics expert. Most insurance companies will cover the cost of genetic counseling. To find a genetics expert near you, visit the page on finding health care specialists on the FORCE website.

Helping Hereditary Cancer Research: Participating in Research Studies

People frequently ask me what can be done to promote hereditary cancer research. Given the fact that our population is relatively small, and there are few research studies specifically for our community, connecting willing and eligible participants to open research studies is a critical piece of the work FORCE does to support research. If researchers can’t fill and complete their studies then the research funds may be wasted and fewer funds may be set aside for future research to benefit our community. I recently learned of some new studies and thought it timely to highlight clinical trials that might be of particular interest to our community. What follows is a sampling of research listed at this moment on clinicaltrials.gov (the research search tool through the National Institute of Health) and other research studies but is not a comprehensive or complete list of what is available. New studies are added continually, so keep checking back on the FORCE and the clinicaltrials.gov webpages for updates. A list of PARP Inhibitor studies is available on the FORCE website under our clinical trials and research section.

Breast and Ovarian Cancer Treatment Studies:
Most research on new treatments for breast and ovarian cancer are enrolling women with advanced (stage III or IV) disease. If you or a loved one has advanced breast or ovarian cancer, we encourage you to look into the following studies.

PARP Inhibitors and breast or ovarian cancer
These are new cancer therapies that take advantage of weaknesses of cancer cells. Clinical trials are looking at PARP Inhibitors for treating several different types of cancers, including breast cancer and ovarian cancer. Based on how the medication works, researchers are hopeful that it will work particularly well in BRCA mutation carriers with cancer.

Avastin and “triple-negative” breast cancer
Researchers are looking at specific treatments for a type of breast cancer known as “triple-negative” cancer. These cancers are called triple-negative because they are estrogen- and progesterone-receptor negative and are negative for overexpression of Her2neu. “Triple-negative” breast cancers are particularly common in women wtih BRCA 1 mutations (roughly 85% of BRCA 1 breast cancers are “triple-negative” while only about 5-10% of BRCA 2 breast cancers are “triple-negative”) therefore these studies may be of interest to many women in our community. Several studies are researching whether bevacizumab (Avastin) may work better than standard therapy for “triple-negative” breast cancers.

There are also open studies (not necessarily for BRCA carriers) researching Avastin for ovarian cancer treatment.

Prevention Studies
Searching for cancer prevention studies in high-risk women uncovered a few studies.

Breast cancer prevention
Two centers in California are participating in an open study to look at a medication called Deslorelin to lower the risk for breast cancer in women with a BRCA mutation.

One fascinating study which will be conducted in Israel but which is not yet recruiting women involves prophylactic radiation for breast cancer survivors with a BRCA mutation to prevent cancer in the opposite breast.

Other prevention studies although not necessarily specific to women with BRCA mutations are enrolling high-risk women.

Ovarian cancer prevention
A new phase II “prevention” trial from the Gynecologic Oncology Group (GOG) is open only to women who are planning risk-reducing salpingo-ophorectomy. The goal is to study a medication called Levonorgestrel (a type of progesterone) for the prevention of ovarian cancer (note that the clinical trial information for this study is from the National Cancer Institute and at the time of this writing it has not yet been listed on clinicaltrials.gov).

Surveillance Studies
Breast surveillance
Few of the research listings under breast cancer detection or surveillance were specifically for high-risk women. This Protocol for Women at Increased Risk of Developing Breast Cancer study from the University of Kansas includes a surveillance component.

Ovarian surveillance
The Clinical Trial to Screen Participants Who Are at High Genetic Risk for Ovarian Cancer (also known as the ROCA Study) is still enrolling high-risk women at several sites.

The Robert H. Lurie Comprehensive Cancer Center at Northwestern University hasa surveillance study open to high-risk women in Chicago.

New York University (NYU) lists their National Ovarian Cancer Early Detection Program.

Other Studies of Interest
Registries for Women Undergoing Mastectomy
I recently became aware of two registries open to women undergoing mastectomy. One is a registry for patients having a risk-reduction mastectomy at Georgetown University Hospital (Washington, DC). The other is a registry studying nipple-sparing mastectomy and is open to women having surgery at Evanston Northwestern.

Another study being conducted at Massachusetts General Hospital and Dana-Farber Cancer Institute that might be of interest for postmenopausal women in our community is looking at treating menopausal symptoms using nonhormonal therapies. The study is open to survivors and previvors who fit eligibility criteria.

Another fascinating study entitled Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age Children is enrolling women in Boston (through Dana-Farber Cancer Institute) and DC (through Lombardi Cancer Center) undergoing genetic counseling for BRCA who have children who are minors. Note that the study is about mothers communicating their test results to children and does not involve actual testing of minors for BRCA.

Is a research study right for you?
Participating in research studies is a personal decision. A person may qualify for a research study but may not choose to participate. Additionally, not everyone who would like to participate in research qualifies for studies that are available. For more information on the benefits and risks of participating in research, explanation of types of research studies, and links to further studies visit the FORCE website page on clinical trials and research. If you are a researcher with a study enrolling hereditary cancer or high-risk people, please visit the FORCE website section for health care professionals to learn how to list your study.

Previvor: Past, Present, & Future

Use of the term “previvor” has become common, which, in my opinion is good for our community. Since popularization of the term increases the chance that its meaning and origin can get lost or forgotten, a post on the origins and future of the term seems timely.

I have seen some people react strongly (with intense like or dislike) to the term, which I can understand. By sharing the history and reason why the term was coined I hope to help people accept or at least understand the intent and meaning behind the creation of the term.

In 1998, after finishing my treatment for breast cancer and after learning that I had a BRCA 2 mutation, I sought out breast cancer support groups. Because of the hereditary component to my cancer, I felt that others in the group couldn’t relate to many of the issues I was facing. My needs were not entirely met by the standard cancer support group model. Along the way I met women who were high-risk because of a BRCA mutation or other risk factor but who did not have cancer. These women became my friends and inspiration; certainly they were facing difficult decisions and issues that most of their friends couldn’t understand or relate to. With a diagnosis of cancer I immediately joined an already well-established community (albeit one I didn’t want to belong to) and instant access to support and resources via great organizations such as Gilda’s Club, the Wellness Community, and local support groups. Sadly, I noticed that many of my new high-risk friends without cancer felt alone, and not comfortable with using resources and forums created specifically for people with a cancer diagnosis.

I founded FORCE in 1999 under the principle that nobody should face hereditary cancer alone. Our goal has always been to include all who have been affected by hereditary cancer: those with cancer and those without, those with a known mutation and those with cancer in the family even if no BRCA mutation has been found. FORCE was also established to provide a home and safe haven specifically for high-risk women who had very few other safe and supportive places to share their common experiences.

The term “cancer pre-vivor” arose in 2000 from a challenge on the FORCE message board by Jordan, a website regular, who posted, “I need a label!” At that time I knew that the medical community had a label: the term “unaffected carrier” is used to describe those who have a gene mutation but have not had cancer. The term applies from a medical perspective, but can be dismissive for people who face the fears, stress, and difficult choices that accompany an increased risk for cancer. As a result, FORCE developed and promoted the term “cancer previvor” for “survivor of a predisposition to cancer.” The term includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor who are living with the knowlege of being high-risk.

Over the years the term previvor has been incorporated into the FORCE lexicon. Due to the enthusiastic use by our community and the medical community’s lack of a better word, the term has slowly been accepted by the medical and research community. In 2007 a series of high-profile articles in the New York Times brought public attention to the term and the serious issues that cancer previvors face. In December 2007, Time Magazine chose “previvor” as #3 of the top buzzwords of 2007 giving millions of people exposure to the term.

What does the future hold for the term and the community? The explosion of genetics research has led to the discovery of genes that predispose people to many different diseases. One of the powerful promises of genetics research is the ability to better predict risk and develop effective strategies to prevent diseases like cancer before they develop; this is an area where we have great potential to make an impact on the wellbeing of this and future generations. With the discovery of more genes that predispose to an assortment of diseases; cancer, diabetes, Alzheimers, we can expect that more people will learn that they are at high-risk for something. And risk is a spectrum: not all risk is created equal. Someone with a 25% lifetime risk for breast cancer for example,(compared with the population risk of 12.5%) may have a different set of issues to face and choices to make than someone with an 85% lifetime risk for the disease. These emerging “previvors” will face new challenges and dilemmas that may be different from those faced by the BRCA community but which require a new set of devoted resources. Through recognition and awareness of the unique issues each high-risk group faces we can begin to address their information, resource, and research needs. Perhaps this will require the development of a government agency–maybe an “Office Of Previvorship” (OOPs for short?)–with committed resources and funding to study and try to meet the medical and emotional needs of those who have hereditary predisposition to diseases.

The development and success of the term previvor is just one example of FORCE’s continuing role in uniting and providing a strong voice for families touched by hereditary cancer. For more information on FORCE and our programs, visit our website at facingourrisk.org.

Previvor is chosen as #3 top buzzword of 2007