Proposed Guidelines on BRCA Testing Leave Many Gaps

The United States Preventive Services Task Force (USPSTF) is a government-supported independent panel of experts that reviews and develops recommendations on select preventive health services. The panel assigns letter grades to preventive services based on their opinion of strength of the research evidence. The task force just released a draft of their guidelines on genetic counseling and testing for BRCA. Despite some strengths of the updated guidelines; important gaps remain that will directly affect patient access to genetic counseling, genetic testing, and preventive services.

Significance of These Guidelines
The USPSTF published guidelines are important to consumers for two main reasons:

1. Primary care clinicians and health systems follow these guidelines. The content of the guidelines can affect what information doctors convey to patients about disease risk, screening, and prevention.
2. The panel’s guidelines must be implemented based on the Patient Protection and Affordable Care Act (PPACA), which states that health plans must provide benefits without imposing cost-sharing (i.e., without a deductible or co-pay) for services that have a rating from the task force of “A” or “B.” 

USPSTF Guidelines on BRCA Testing
In 2005, the USPSTF first issued guidelines for primary care providers on “Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility.” The task force assigned a grade “B” (recommended health care providers offer this to patients) to genetic counseling and testing for women with a family history suggestive of a possible BRCA mutation. It issued a grade “D” (recommended health care providers discourage patients from using these services) to genetic testing in women without a family history suggestive of a mutation. In 2005 this guidance was greatly needed, as many primary care providers were either unaware of BRCA testing or had received most of their information from Myriad Genetics, the laboratory that sells the test. At the time, the USPSTF did not request public or expert commentary on their guidelines.

In 2011, the USPSTF announced its plan to update these guidelines, and asked for public commentary. FORCE (and other health care experts) submitted written recommendations to the USPSTF on its plan to review the research on BRCA genetic counseling and testing and update the guidelines. Despite receiving extensive suggestions for strengthening and improving the guidelines, last month the USPSTF released new draft guidelines that essentially restate the 2005 guidelines and grades with few changes. In general, I agree with the letter grades that were assigned, but I’m disappointed that this opportunity for guideline revision was not used to address critical gaps. With the recent passage of the PPACA—which references USPSTF guidelines to determine insurance coverage of some preventive services—it is more important than ever that the USPSTF guidelines on genetic counseling and testing are practical, comprehensive and evidence-based. Gaps in the guidelines will now directly affect patient access to genetic counseling, testing, and preventive services as outlined by this new legislation.

An overview of our comments is available on our advocacy page, and our full written comments as submitted to the USPSTF can be viewed here.

FORCE Concerns with the Draft Guidelines

• The patient population covered by the guidelines is too narrow. Important groups are not specifically included in the USPSTF guideline “B” letter grade:
  • Women who have been diagnosed with cancer
  • Women with a known BRCA mutation in the family
  • Women with a family history of cancers other than breast or ovarian cancer that puts them at high risk for inherited cancer
  • Men

• No letter grade is assigned to any risk-management options.
  The task force mentions risk-management interventions but does not assign letter grades to specific prevention and screening options. With no letter grade assigned, these preventive services are not guaranteed coverage under the PPACA, nor will health plans be directed to provide the services without out-of-pocket costs to patients.

• The current guidelines take a single-syndrome approach to family history and genetics. The task force states: “…primary care providers should ask about specific types of cancer, which family members were affected, and the age and sex of affected family members…For women who have positive family histories of breast or ovarian cancer, primary care providers may use one of several brief familial risk stratification tools to determine the need for in-depth genetic counseling.”

Encouraging doctors to take a patient’s family history of breast and ovarian cancer is a positive step. However, the guidelines only provide instructions for referring women with a positive family history of these two cancers. Other cancers (such as pancreatic cancer) can be associated with a BRCA mutation in a family. Further, a family history of different cancers may indicate other hereditary syndromes associated with different mutations than BRCA. Lynch Syndrome, for example, is associated with a family history of ovarian, colon, and/or endometrial cancers and Cowden Syndrome is associated with breast, thyroid, and uterine cancers.

FORCE Recommendations to the USPSTF
FORCE’s submitted recommendations for addressing these gaps, focusing on issues that we felt had the most supportive research evidence:

• Extend the evaluation and letter grade to women with a known mutation in the family
• Extend the evaluation and letter grade to women who have been diagnosed with breast cancer and who meet criteria based on personal and family history of cancer 
• Assign a letter grade to the following risk-management options
  • Breast MRI 
  • Risk-reducing  bilateral mastectomy
  • Risk-reducing bilateral salpingo-oophorectomy
  • Oral contraceptives
• Review the evidence and develop one set of integrated practice guidelines for collecting family history and referral of appropriate individuals for genetic counseling, testing, and related preventive services. These guidelines should include Lynch Syndrome and other relevant hereditary cancer syndromes.

Guidelines Are Important, But A New Approach Is Needed
Focusing public health efforts on disease preventive is lifesaving. Applying risk assessment allows us to better tailor prevention and screening for those in the highest risk categories; this approach is both lifesaving and cost saving. Developing expert guidelines based on  the strength of research on preventive care is worthwhile. But we must do a better job in guiding primary care doctors specifically on topics of genetics, risk assessment, screening, and prevention of hereditary disease in order to save more lives.

The USPSTF consists primarily of public health experts rather than clinical experts in disease and genetics. This may not be the best approach for reviewing topics in the realm of personalized medicine and genetics. The Centers for Disease Control (CDC) Office of Public Health Genomics organizes a panel – the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group – which includes both public health experts and clinicians. EGAPP provides an example of a more inclusive panel for reviewing the application of genetics to public health.

The narrow approach of reviewing research for only one hereditary cancer syndrome and only specific portions of the community while ignoring other hereditary syndromes and populations at risk does not serve the public well. Using this approach, the USPSTF is missing the opportunity to help practitioners identify people at very high risk for many preventable diseases with a goal of saving lives. Health care professionals and the public would be better served by having a single set of evidence-based guidelines that address the collection and evaluation of personal and family medical history to identify people who would benefit from genetic counseling and testing for many hereditary diseases. These guidelines should include all hereditary disease syndromes and conditions that have associated genetics tests with clinical utility.

FORCE plans to work with policy-makers and other advocacy groups to outline and propose a new approach to systematic review of preventive services such as collection of family history, genetic counseling, genetic testing, and screening and prevention options. Our goal will be to address important issues including:

• Determining which experts should be included on preventive services task force panels
• Prioritizing the diseases and preventive services to be evaluated
• Integrating the guidelines for different diseases and services into a single set of easy-to-follow recommendations on risk-assessment, screening, and prevention
• Expanding coverage under the PPACA, Medicare, and Medicaid for preventive services for more diseases, populations, and medical interventions

The new USPSTF draft guidelines highlight gaps in education resources, research and access to care. There is a continued need for FORCE to take action and unite our community to advocate for more HBOC-specific research and more access to credible information, genetic counseling and testing, and risk-management options. At the same time, FORCE will be working with groups representing other hereditary diseases to address the global issue of how to better incorporate personalized medicine and genomics into public health. Stay tuned for updates.

Gene Discovery, Patents, and the Community

Recently a dear friend sent me a link to an article in the February 1996 issue of Nature Medicine. The article by journalist Adam Marcus covered a media event and panel of women’s rights advocates expressing concern about Myriad’s impending patenting of the BRCA1 gene. Panelists declared unregulated genetic testing to be the coming century’s foremost threat to individual liberty. Incredibly, 17 years after the publication of Adam Marcus’ article, the debate is still ongoing—the issue of gene patenting and the consequences of lacking regulation regarding gene patents are still present and as relevant as they were then.

Admittedly, I missed this article the first time around. In 1996, I was more likely to be reading the Journal of the American Veterinary Medical Association than a human medical journal. With a toddler, a budding veterinary career, and no significant family history of breast cancer, my focus was not on hereditary cancer. In fact, genetic testing and gene patents were furthest from my mind. But my diagnosis with breast cancer eight months later and subsequent revelation that I have a BRCA2 mutation changed that.

When I was first tested for a BRCA mutation in 1998, I was fortunate; my testing costs were covered by my health insurance. I was very grateful to have access to the test; my gratitude extended to the laboratory that made the test available to me. Although I was initially tested without genetic counseling, I went to MD Anderson Cancer Center for a second opinion and eventually found my way to a genetics expert and had access to up-to-date and credible information from experts. It wasn’t until I became immersed in my work with FORCE that I became aware of deeper issues that were the consequence of Myriad holding patents on the BRCA genes.

In 2009, Joanna Rudnick released her documentary In the Family, which shined a spotlight on Myriad’s gene patents and some of these consequences. The documentary included an eye-opening interview with Dr. Mark Skolnick, founder of Myriad Genetics. Joanna questions how a gene—a product of nature—can be patented, saying “It’s like patenting your thumb.” Skolnick compares Myriad’s patents on the BRCA genes to patents for ipods, telephones, and computers, and cavalierly asserts “there’s no controversial patent. It’s all very easy to understand if you take the time.”

In the film, Joanna brilliantly follows the Myriad interview with an interview of Dr. Mary-Claire King, who was credited with identifying the location of the BRCA gene when she was a researcher at University of California at Berkeley. Dr. King has dedicated herself to the research that proved the existence of hereditary breast cancer gene mutations. Her research laid groundwork that sent many laboratories racing to be the first to isolate and clone the gene for genetic testing.

In Rudnick’s film, Dr. Skolnick says, “I think the single greatest inventive thing I did was to create Myriad. We did it to win the race…and we won.” Asked point-blank why the cost of the test is increasing, Dr. Skolnick replies, “that’s a good question, and I think there’s a point at which we have to start looking at decreasing the cost of the test.” Yet, four years after the documentary was released, the cost of testing has gone up—BRCA testing is more expensive, even though the technology for sequencing DNA has become less expensive.

The gist of Dr. King’s interview starkly contrasts with Dr. Skolnick’s statements. Dr. King speaks about genes for which she holds patents, saying, “The critical thing about the patents we hold is that none of them are exclusively licensed. So they are completely open for anyone to use for research purposes and any company that wishes to license them can license them for a trivial amount of money.” King mentions that her last royalty check amounted to $2.73. In contrast, the February 6 edition of the Salt Lake Tribune reports Myriad’s earnings: ”Myriad projects full-year 2013 revenue will fall between $575 million and $585 million. That would be a 16 percent to 18 percent increase over fiscal 2012.” The contrast is apparent and appalling.

Over the years, FORCE has appealed to government agencies and spoken to the health care community and the public regarding Myriad’s exclusive patent, and explained how the corporation’s marketing strategies and policies have increased the burden on the hereditary cancer community that we serve. In 2008 and again in 2009 we testified to the Secretary’s Advisory Committee on Genetics Health and Society, expressing our concerns with direct-to-consumer marketing of genetic tests, and specifically Myriad’s marketing practices, which we feel encourages BRCA testing without first receiving genetic counseling from qualified experts trained in cancer genetics. In our opinion, their aggressive marketing strategies have been harmful to members of our community.

In 2009, the American Civil Liberties Union filed a lawsuit challenging Myriad’s patents on the BRCA genes. On April 15, 2013 the U.S. Supreme Court will hear oral arguments on gene patenting. This hearing will represent the culmination of four years of the legal tug-of-war between Myriad Genetics and the plaintiffs, which included the ACLU and a long list of individual, advocacy, and health care professional groups. FORCE agrees with the ACLU that exclusive gene patents negatively affect access to care and research and we have filed an Amicus (Friend of the Court) brief on behalf of plaintiffs. You can read our testimony to the United States Patent and Trademark Office on the topic of how exclusive gene patenting impacts research and access to care. The Supreme Court oral arguments will be open to public participation.

For those who wish to learn more about Dr. King’s work, Decoding Annie Parker is a new  movie that follows the parallel lives of Dr. King and Annie Parker, a Canadian woman whose family was impacted by hereditary cancer. Based on a true story, the film raises the profile of Dr. King’s contribution to the discovery of hereditary breast and ovarian cancer syndrome and the BRCA1 gene mutation. It is sure to resonate with many in our community. FORCE is a proud charity partner of the movie, which stars Helen Hunt as Dr. King. A special screening will be held April 2 in New York City. FORCE will hold  screenings of the film in other cities. Stay tuned for updates.

Creating More Resources for High-Risk Women Undergoing Breast Cancer Screening

Women at high risk for breast cancer are not receiving the information, access to care, or support they need to address their elevated cancer risk. Despite guidelines on risk assessment and management, many women are not accurately informed about their high-risk status or the risk-management options required to make informed health care decisions. Some high-risk women report that uninformed health care providers or insurance companies deny them access to standard-of-care screening services. Other women express frustration in getting the peer support and encouragement they need as they undergo increased breast surveillance.

FORCE is committed to addressing these issues. We have started by creating a survey for women undergoing breast surveillance to document and measure the extent of the information and resource gaps.  We have already identified some of the gaps in care and support for these women including:

• Inadequate breast cancer risk assessment
  Guidelines for breast cancer screening are based on certain risk factors, and not all breast cancer risk is created equal. Unfortunately, many women who want to know their risk for breast cancer do not receive credible, up-to-date information about their risk and standard-of-care risk-management recommendations. This is in part a result of more people receiving genetic testing without full genetic counseling from genetics experts. (Visit our finding health care section of the FORCE website to locate a genetics expert.) Providers who are not trained in cancer genetics may run a BRCA test but fail to recognize other hereditary syndromes and cancer risk factors that might be causing cancer in a family. This can lead to some women with a family history of cancer incorrectly believing their risk for breast cancer is not elevated. Accurately identifying women at high risk for breast cancer is essential because these women benefit from increased breast screening and other risk-management options. FORCE will continue to encourage women concerned about their breast cancer risk to seek out qualified health care experts with advanced training in cancer genetics and risk assessment.
• Incorrect information about high-risk screening and risk-management options
  National expert (NCCN) guidelines recommend annual MRI, mammogram, and clinical breast exam beginning at age 25 (or younger in some cases) for women at very high risk for breast cancer, including women with BRCA mutations or other inherited gene mutations. These guidelines are updated annually. The American Cancer Society also recommends annual breast MRI and mammogram for women with an intermediate risk for breast cancer of 20% lifetime risk or higher. For some high-risk women, additional recommendations include discussion of medications or surgery to lower risk. Despite this, almost daily we hear from high-risk women who have not been advised of all their risk-management options. It is critical for us to assure that women who are at high risk for breast cancer receive credible information about standard-of-care guidelines for breast cancer screening and options for lowering their breast cancer risk.
• Inadequate insurance coverage for breast screening
  Most, but not all insurance companies cover increased breast screening for women who are at high risk for breast cancer. Still, screening can be expensive, and the out-of-pocket expense from copays and deductibles can be high. Many high risk women are uninsured or underinsured. Although there are some resources that provide financial assistance for mammograms and MRI, not all high-risk women have equal access to these financial services. FORCE’s has compiled resources that provide financial assistance for breast screening on our website page on Insurance, Financial Assistance, Cost of Services. We will continue to add more resources and advocate for programs to assist all high-risk women gaining access to these services.
• Inadequate emotional support for high-risk women undergoing breast screening and awareness of non-surgical risk-management options
  FORCE receives feedback from women undergoing high-risk surveillance who report feeling anxious, isolated, or dismissed. Some express frustration that media coverage on high-risk women focuses mainly on prophylactic surgery, ignoring other risk-management options and leaving gaps in public awareness of these options. (You can read my recent blog on this topic). Many express a desire to connect with other high-risk women undergoing surveillance.

We invite high-risk women who have not undergone bilateral mastectomy to take our survey and join our mailing list. Over the next several months, FORCE will continue to address these issues by developing publications and other educational materials on standard-of-care guidelines for breast screening. We encourage our community to share these publications with mammography centers, health care providers, and family members in order to educate them about the need for increased breast surveillance in high-risk women. We will post articles and communications for our community to read and share so that we can raise awareness about high-risk screening.  Our website section on research lists screening and prevention studies. We will highlight research opportunities looking at new screening modalities and medications or lifestyle interventions aimed at lowering breast cancer risk. And we will build a support network, one volunteer at a time, of women undergoing breast screening who are interested in supporting others like themselves. Together, we can address these issue for this important segment of our community.

Hopeful Progress in Ovarian Cancer Prevention Research

In 2008 FORCE conducted a survey to learn about research priorities for the HBOC community. We learned that women want better methods for ovarian cancer detection and prevention for ourselves, our children, and future generations. For this reason, we have worked closely with researchers exploring new options and we have carefully followed and shared with our community the progress in ovarian cancer detection and prevention.

Since BRCA testing became available, experts have recommended bilateral salpingo-oophorectomy or BSO (removal of the ovaries and fallopian tubes) for women with mutations between the ages of 35 – 40 or after childbearing is completed. Until large studies on women with mutations were completed, there was little data and only common sense to back up this recommendation. Later, research proved that for women with BRCA mutations removing the ovaries and tubes lowers the risk of developing and dying from breast cancer and ovarian cancer. I recall when the studies were published and the media was flooded with articles about how this “simple surgery” can lower risk. At the time, I was about 3 years out from my BSO at age 35 and dealing with significant surgical menopause side effects. I recall thinking, “Simple for whom?”

Don’t get me wrong; BSO is often an outpatient procedure with minimal surgical risk and scarring. The research on risk and survival is incredibly important and significant, and finally proved what experts long suspected. But the use of the term “simple” made it seem like these decisions were easy. On a personal and professional basis, and almost daily, I am reminded how difficult the decisions are. Many women recover quickly after surgery and their quality-of-life remains the same. But others suffer from side effects and long-term health and quality-of-life consequences from early menopause. The decision for surgery can be difficult and consequential for many women.

In the last few years, studies on high-risk women suggest that many ovarian cancers in BRCA gene mutation carriers may actually start in the fallopian tubes. In 2009 and 2010 at our annual conference experts presented the possibility that early detection or prevention focused around the fallopian tubes might allow women to temporarily delay BSO until closer to natural menopause. But medical experts need evidence that it is safe and effective before they can recommend salpingectomy (removal of the fallopian tubes) as a risk-reducing option. This requires a research study comparing outcomes of women who have salpingectomy, women who have BSO, and those who choose surveillance. The design of such a study faces several challenges. A big concern has been whether or not high-risk women would be willing to participate in a prevention study examining fallopian tube removal followed by removal of the ovaries later.

To answer this question, in 2011 FORCE conducted a survey on attitudes of high-risk women towards participating in ovarian cancer risk-reduction research. Preliminary results were presented at our 2011 annual conference and shared on our blog. Almost one-third of the 333 respondents would consider participating in a prophylactic salpingectomy study. We shared this finding with the research community as evidence that a salpingectomy study would be feasible and that women would enroll in such a study.

At our 2012 conference, gynecologic oncology experts Dr. Illana Cass and Dr. Douglas Levine presented the pros and cons of further research on salpingectomy to lower the risk in high-risk women.  The presentation used a debate format and presented two sides of the salpingectomy issue:

Arguments against developing a salpingectomy study included:

• Although many cancers in high-risk women may start in the fallopian tube, we have no proof that all ovarian cancers begin in the tubes.
• The benefits of salpingectomy are unknown and likely less substantial than BSO.  The surgery is unlikely to impact breast cancer risk. Meanwhile, there are well-documented benefits of BSO for mutation carriers.
• Many experts are concerned that women who undergo surgery to remove only the fallopian tubes will not return for additional surgery to remove their ovaries after they undergo natural menopause.
• Designing such a study would require a large, costly, cooperative research effort that would take over a decade, thousands of high-risk women participating, and massive recruitment and follow-up effort.

Despite these valid concerns, there were strong arguments presented in favor of studying salpingectomy as a risk-reducing option for high-risk women, including:

• Salpingectomy might serve as an “interval surgery” to manage and lower risk in high-risk women who are not ready for BSO and would otherwise opt for surveillance only.
• Women who undergo salpingectomy can maintain their ovaries longer and avoid long-term medical consequences of surgical menopause.
• This type of large-scale research would provide valuable information about development, prevention, and treatment of ovarian cancer for women with BRCA mutations and those without.

Both presenters at our conference agreed on one important conclusion: the time is right for additional research on salpingectomy.

Fortunately, other medical experts agree. During the Gynecologic Oncology Group meeting this January, the Cancer Prevention and Control Committee approved further development of a concept to design a feasibility study of risk-reducing salpingectomy. Many proponents, including the National Cancer Institute’s Division of Cancer Prevention and FORCE enthusiastically endorsed designing such a study. It’s important to note that despite this progress, it still may be more than a year before a salpingectomy study would open at GOG sites around the country.

We know that these studies are needed and that many high-risk women would consider participating in them. As with the development of new PARP Inhibitor research studies (which I blogged about last week), I feel optimistic about salpingectomy studies moving forward and proud of FORCE’s hard work and contributions in promoting these studies. The voice of the hereditary breast and ovarian cancer community has been heard. Our community is highly motivated to participate in hereditary cancer research and once the study is developed and open, I feel confident that women will enroll. Please stay tuned for further updates. To read more about fallopian tube and salpingectomy research, read our Research Updates article and view our on-demand webinar on this topic.

Progress in Hereditary Cancer Treatment Research

Recently I participated in the Gynecologic Oncology Group (GOG) semi-annual meeting in San Diego. The GOG is part of the National Cancer Institute’s Clinical Trials Cooperative Group Program, whose role is to promote and support clinical trials for cancers. As one of the members of the Patient Advocacy Committee of GOG I participate by providing the consumer perspective and input into the research, assisting with clinical trial recruitment efforts, and disseminating the information from GOG research back to the community.

At the meeting, a research update on the study GOG 280 gave me great hope for better options for our community. I learned that this phase II study examining the PARP inhibitor Veliparib (Abbvie) to treat ovarian, fallopian tube, and primary peritoneal cancer met its enrollment goals. This means that researchers successfully recruited all the study volunteers they needed to determine the safety and explore the efficacy of the drug for treating women with ovarian-type cancers.

Women in the study received oral Veliparib as a “single agent,” which means that the study did not combine the drug with chemotherapy. This study was open only to women with BRCA1 or BRCA2 mutations who had been diagnosed with ovarian, fallopian tube, or primary peritoneal cancer that had recurred after treatment.

This study was phase II: it was a very small, with only about 50 participants. We expect a report of the study results at the American Society of Clinical Oncology (ASCO) meeting in Chicago this spring. We are hopeful that the results will be positive and will pave the way for a larger, phase III Veliparib study that would be open to hundreds of ovarian, fallopian tube, and primary peritoneal cancer patients. Stay tuned to FORCE for updates on the research results.

Although the ovarian study is filled, there are other open PARP inhibitor studies, including a large phase II study looking at PARP inhibitors in combination with chemotherapy for advanced hereditary breast cancer which is open and has been expanded to many sites across the United States and internationally. Other smaller PARP inhibitor studies, including studies for women with ovarian cancer, and a study for women with early stage breast cancer who have residual cancer after neoadjuvant chemotherapy are open or will be opening soon.

I need to acknowledge all the brave volunteers who enroll in any medical research, and particularly thank those who participate in hereditary cancer research. Your participation is critical for progress in cancer prevention and treatment and gives us all hope for better options for us and for future generations.

Visit the Clinical Trials and Research Section of the website for more information and our Featured Studies Page for links to open PARP inhibitor and other studies. We will be presenting a free webinar: Updates on PARP Inhibitor Research on February 28. Visit our Be Empowered Webinar page to register or for more information.

Drawing Attention To High-risk Screening

Reports are everywhere in the media about which celebrities underwent prophylactic mastectomy, the difficulty of their decision, and why these women made the choice. These media reports can be helpful to our community as they raise awareness of hereditary cancer risk and risk-management and remove the stigma of mastectomy. However, given the media focus on mastectomy, it would be easy to assume that surgery is the only option for high-risk women, when in fact, there are several options available to women who are at increased risk for breast cancer. When the media focuses solely on surgical risk-management, they may inadvertently send a message that this the only way to manage increased risk for breast cancer. Some women may avoid seeking information about their risk for fear that their only recourse will be surgery.

Risk is a spectrum. We know how to identify individuals in the highest risk category for breast cancer—women with a BRCA1 or BRCA2 mutation face some of the highest known lifetime risks for cancer, as high as 85% compared to 12.5% for women of average risk. Other gene mutations are also linked with a high risk for breast cancer, including Cowden Syndrome that is associated with a mutation in the PTEN gene, and Li Fraumeni that is associated with a mutation in the P53 gene. Like women with BRCA mutations, women with these other mutations face a high lifetime risk that is usually younger at onset and can be associated with a more aggressive cancer.  Continued media attention highlighting genetic counseling and appropriate use of genetic testing can be life-saving. For example, a recent publication estimated that less than 10% of women with a BRCA mutation are aware of their risk.

Current expert guidelines recommend several risk-management strategies for high-risk women with these mutations. National guidelines for breast screening in women with BRCA mutation include annual MRI and mammogram beginning at age 25 or 10 years earlier than the youngest cancer in the family. Surveillance may also be coupled with pharmacoprevention; usually tamoxifen, which has FDA approval for use to lower risk of breast cancer in high-risk women. High-risk surveillance has been shown by research to find cancers earlier when they are more treatable. But surveillance is not infallible, and we know that for some women, the cancer will not be found until it has spread outside the breast and lymph nodes. Therefore, the national guidelines also support the discussion of prophylactic or risk-reducing surgery. Although drastic, it is the most effective means for lowering the risk for breast cancer in high-risk women. Surgery is not for everyone, and surveillance is considered by health care experts to be a viable option for high-risk women to manage their breast cancer risk. Research has shown that risk-reducing mastectomy does not improve overall survival – even in women who are at very high risk – although other outcomes may be more important to women, including avoiding a cancer diagnosis or the consequences of treatments such as chemotherapy, radiation, and axillary dissection.

Genetics research is improving our ability to pinpoint risk along the risk spectrum. We can now better identify women who are of moderately increased risk. Emerging panels are looking for changes in multiple genes beyond BRCA, PTEN, and P53 that may increase a woman’s risk for breast cancer that confer an “intermediate-risk” of about 20% or higher lifetime risk for breast cancer. Women with a strong family history of breast cancer with no identified cancer mutation also fit this category. Experts have guidelines for women of intermediate breast cancer risk. The American Cancer Society recommends that women with a 20% or higher lifetime risk for breast cancer undergo annual breast MRI in addition to mammograms, starting at a younger age. Other known risk factors may influence women’s risk management decisions, including having very dense breasts that are hard to image or prior abnormal changes on a biopsy, such as atypia or LCIS.

Most women with higher-than-average risk for breast cancer begin with surveillance. Some may ultimately choose to undergo risk-reducing surgery later based on new information, abnormal biopsies, or other factors.

A lot of misinformation and misunderstanding still surrounds breast cancer screening, and women undergoing breast surveillance need credible information and peer support. Some health care providers continue to tell women that they are too young or do not need mammograms or MRI. And research is ongoing with new studies looking at ways to improve breast cancer detection in high-risk women. Medications such as metformin are being investigated for lowering risk of breast cancer. Like all aspects of living with increased cancer risk, some aspects of surveillance differentiate and isolate women from their average-risk peers.  By building a strong and unified community, educating women, providing peer support, and advocating for more research and better options, FORCE will continue to provide needed resources for this portion of our community. The stories may not be as exciting or as compelling to the media as those about prophylactic mastectomy, but we must also continue to remind the media that many options are available for women who are at increased risk for breast cancer, and emphasize the importance of consulting with genetics experts to receive credible, personalized information prior to making any risk-management decisions.

Happy New Year/Happy Birthday FORCE

Dearest Friends,
Please indulge me in posting my annual new year/birthday wish to FORCE on my blog.

It’s hard to believe another year has gone by! Tonight, FORCE and this community will celebrate our 14th birthday. This year even more than previous years it feels as though we have grown and accomplished so much!

FORCE was founded on New Years, just a few moments after the stroke of midnight! As the new year rang in, I was sitting at my computer, fresh out of treatment and prophylactic surgery, posting on the brand-new message board of a brand-new non-profit organization and putting out the call for others affected by hereditary cancer to join me in this effort. I felt alone, there was no organization, and no community that recognized the impact of hereditary cancer or that provided a sense of understanding and unity for those like me with a genetic predisposition to cancer. Each New Year’s eve, I also celebrate the creation of this amazing organization, resource, and the building of this community. Since then FORCE has changed my life and the lives of so many others!

2012 was a great year for us: we helped influence policy on screening, we advocated loudly for more research, and are finally seeing the fruits of these efforts with more PARP inhibitor research studies open than before. We are promoting personalized medicine and genetics incorporation into public health. We are reaching more people through the media and through our programs: our 2012 conference had a record-breaking 600 attendees, the largest gathering of the BRCA/hereditary cancer community. And we have already begun to plan our next conference in Spring 2014 in Philadelphia (stay tuned).

It is my hope for the new year that the continued support of our community will further strengthen FORCE and we will be able to achieve even more in the coming year! (please consider a year-end or birthday gift to FORCE). May each of you experience love, happiness, prosperity, and good health.

For everyone who is part of our great community, your family and loved ones, Happy New Year my friends, and happy birthday to FORCE.

Be empowered and be well!

Clinical Trials for Hereditary Cancer: Where the Rubber Meets the Road

This blog is a call to action! Please read on, and then post, blog, tweet, retweet, and share about this issue so that we can assure that hereditary cancer research continues!

The call for more research is a constant theme for all diseases including cancer, and sometimes it’s easy to get frustrated by the slow pace of progress. The multistep process from discovery to FDA approval is often long and doesn’t always end in success. But research is necessary to assure that new treatments work as well or better than current standard-of-care. For this to happen, studies must recruit enough people to prove that the agents work. This is particularly critical for research that focuses on a small specific population like people with a BRCA mutation.

PARP inhibitor research is a prime example. I first heard about PARP inhibitors at the 2005 ASCO annual meeting. In her plenary address on advances in hereditary cancer, Dr. Barbara Weber from the University of Pennsylvania mentioned targeted agents (PARP inhibitors) that were designed to exploit weaknesses of cancer cells in people with BRCA mutations. This was exciting news! I was hopeful that this could be the beginning of personalized therapy for people in our community. From that moment on, I vowed to do whatever it took to learn about, share with our community, and promote the studies to determine whether these drugs worked.

Early small clinical trials of PARP inhibitors were promising, but delays and road-blocks affected development of larger research studies. Some of the roadblocks had to do with study design; others involved dosing or side effects as researchers determined the most effective combinations of PARP inhibitors with other anticancer agents. Despite these issues, enthusiasm continues for the potential of these drugs in people with BRCA mutations. Yet, eight years later, there are still no FDA-approved PARP inhibitors and people are still dying of hereditary cancers!

FORCE has continued to advocate for further research on PARP inhibitors, petitioning scientists, the FDA, and pharmaceutical companies to address the road-blocks and challenges and to facilitate the research and find answers for hereditary cancer. After eight long years, our pleas and efforts have been rewarded. Several PARP inhibitor studies are now recruiting, including a large, Phase II study on PARP inhibitors for women with BRCA-associated advanced breast cancer. Our participation in this research is critical. Unless enough people participate, these studies will not continue. If enrollment falls short, the next time scientists have an idea for treating or preventing hereditary cancer, they may decide that the BRCA community is too difficult to research, and fewer studies will be designed for us. That would be tragic considering how many members of our community develop and succumb to cancer.

This is where the rubber meets the road!

We have worked long and tirelessly to advocate for this research. Now that we have it, we cannot afford to turn a deaf ear. At this moment, the fate of hereditary cancer treatment research rests with each of us. Although most of the current studies are open only to women with advanced cancer, even if that doesn’t describe you, perhaps you know someone who fits that description. If PARP inhibitors work for advanced hereditary cancer, the next step will be tests to see if they also work for earlier cancers.

Here is what you can do to help:

• Get involved. Consider enrolling in a study if you are eligible, and share information about PARP inhibitor research with everyone that you know. Post it prominently on your social media pages, share it with your online or in-person support group, discuss it with your local media, and write or blog about why hereditary cancer research is important. Please remember to share your efforts with us. Email us,  post on FB or the FORCE message boards about ways you have spread the word about this important research.
• Stay tuned to FORCE to learn of new available studies. We will be updating this page in the upcoming weeks with new featured studies so check back often.
• Support FORCE with a donation to help us continue our important work to advocate and recruit for research specific to hereditary cancer

We must participate in and promote hereditary cancer clinical trials and other studies if we and future generations are to realize more effective treatment and prevention for hereditary cancers.

A Healing Light From Within

Below are excerpts from our Joining FORCEs conference welcome address and a keynote talk that I recently gave in Chicago.

Fifteen years ago, there was no FORCE. Back then, hereditary cancer was scarier and lonelier than it is today.

When I was first diagnosed with breast cancer at age 33, it was caught early. I was very lucky to have been diagnosed, since I had no family history of breast cancer, and breast cancer was not on my radar. I was very conscientious about my health, and I found a lump on my very first breast self-exam at age 29. The lump was benign, but it was the reason I was having mammograms by age 33, even though I was not considered to be at high risk. My son was almost two, and Dan and I were getting ready to get pregnant again. I went down the list of things you do before getting pregnant: take folic acid, see the dentist, get a mammogram. That mammogram found microcalcification, which led to a biopsy, and then another biopsy that showed very early breast cancer called “ductal carcinoma in situ” or DCIS.  I was fortunate, as I hadn’t needed any further treatment beyond a mastectomy (unilateral), which was recommended because the amount of precancer that was throughout my breast.

I remember attending a Komen Race for the Cure walk three weeks after my mastectomy and looking out into a sea of pink caps and bald heads, and thinking “that isn’t me, my cancer was caught early.” I isolated and insulated myself and kept those other women at arms length, unable and unwilling and too afraid to define myself as someone with cancer. It made me too vulnerable and I didn’t want to be vulnerable.

Nine months later at age 34, my cancer returned in my lymph nodes. I learned that my original health care team had let me down. What they thought was early-stage breast cancer was actually invasive breast cancer that had already spread to my lymph nodes by the time of my mastectomy. Then they let me down a second time by never mentioning hereditary cancer or genetic counseling and testing. Through a chance reading of a magazine article on Hereditary Breast and Ovarian Cancer Syndrome and BRCA mutations, I learned that I carried some of the indications for genetic counseling and BRCA testing. Back then, I didn’t know how to advocate for myself to receive the best care. That lack of knowledge could have cost me my life. When my cancer recurred I knew that I only had one more chance to get it right, and I sought out the best health care experts I could find.

Like the women I saw at that first walk, I lost my hair with chemotherapy.  Suddenly, I was very vulnerable and afraid as I found myself on the other side of the looking glass, the side I had tried to protect myself from through denial and (regretfully) indifference.  While in chemotherapy I traveled to Los Angeles and stayed with a family friend. She was from a generation that didn’t like to talk about cancer. While we were out for a walk, she ran into an acquaintance, who she introduced to me. Right in front of me, nodding at my bald head, she whispered to her friend, “it’s cancer” as if I couldn’t hear her, or as if not saying the words aloud would protect her from it.

It jolted me and hit me, how different I was from the healthy world. I was a young woman with cancer. I knew that there were others like me, but I had never met them. The whispered words made me recoil, I felt diminished, stigmatized, devalued. But I also rebelled against these feelings.

With my genetic testing, that stigma grew. I learned that I had a BRCA2 mutation. Even the word “mutation” seemed alien, invasive, intrusive. How could something so dangerous and damaging be an integral part of me, of my DNA? I had to find a way to redefine and reconcile those aspects of myself in order to move forward in my journey.

I started writing a poem that I dedicated to all the people who were facing that type of stigma. I entitled my poem “Beyond Survival” because for me, surviving wasn’t enough. The poem was about transcending adversity and stigma, and becoming whole. I won’t share the entire poem but here are a few lines:

Beyond Survival

Our hearts flutter but beat strong,

with the will within us to go on.

To not just survive, but to achieve,

to aspire to inspire; to soar, to believe

that we can make a difference.

Shout it emphatically, the sound

of our existence echoes and resounds

ascends and transcends the farthest bluff,

resonates in crevices where ignorance hides

and divides us.

Do not feel devalued, do not cower.

As long as we draw breath, we’re empowered.

Despite these brave words, after finishing treatment, I suffered from depression. I was afraid that my cancer would recur quickly as it had the first time. These were some of the darkest days of my life, even worse than when I was first diagnosed, and when I had my recurrence. My family suffered with me as I didn’t have the energy or engagement in life that my husband and young toddler deserved. I wanted to be well, but I didn’t know how to get there, so I withdrew. I could have easily stayed in that world of sadness and fear, but around that time I purchased my first computer. I reached out via the Internet to others in online cancer forums, and connected with people like myself who slowly drew me out of my sadness and hopelessness and gave me courage to continue on. They inspired me, but equally important, they needed me and leaned on me for inspiration and support. It was from these women that I learned how powerful, healing, and transformative receiving but also giving peer support could be. Although I had not yet started FORCE there was this kernel of thought that my emotional healing from cancer required reaching out to others and knitting a strong community of people who could unite in solidarity and oppose the forces that would diminish us. I wrote this poem for my online support heroes.

cancer, like a vacuum,

was sucking out my joy and hope

enfolding and enclosing me in an envelope

of despair and fear. 

In the distance I saw a steady glow,

heard a chorus growing closer

one light separating into many

descending on me,

a flock of angels

carrying torches, lighting the shadows,

voices singing, arms embracing, wings uplifting me.

I became one with this throng,

a thousand women strong.

In the distance a figure huddles

and shudders in a darkened corner,

we press onward swiftly towards her;

a thousand and one angels

comfort and support our newest member.

From that lonely kernel of thought grew the organization known as FORCE. Little did I know what FORCE would grow to become and mean in my life and the lives of so many. What I did know was that something needed to be done for me and for others to feel less alone! Whisperings in darkened corners are feared. Their shadows are made larger by the lack of light. But from the time of my recurrence on, when I threw off indifference and denial, I understood that if we could shine a spotlight bright on an issue we could remove some of the fear and ignorance, and that together we are so much stronger, braver, and resilient than we are alone. Fourteen years ago I founded FORCE on the principle that no one should face hereditary cancer alone! I was tenacious and passionate in my outreach and advocacy. I did everything I could to make sure that people received the information they needed to make informed medical decisions—information that I was denied when I started my breast cancer journey.

Part of the wonder of FORCE has been the steady growth of our community since then. No matter people’s situation, they are not alone! Our members draw the same strength that I have from belonging to the FORCE community. I believe that each of us carries some type of torch within us, a flame that sparks our passion and helps ignite the passion of others; a flame that we can use to guide other people who are facing darkness and despair. By joining together we have succeeded in illuminating hereditary cancer to create hope for a brighter future for ourselves and for our families.

Previvor Day: A Solemn Celebration

In searching for inspiration for this blog, I went back to the FORCE message boards to remember when and how the previvor movement began.  When I started FORCE, long before the organization and programs grew to the national influence that we are today, we were merely a message board, a way for people in similar situations to connect virtually. The Internet was new to me then, and the ability to reach out to virtual strangers remotely and receive comfort and guidance seemed novel and amazing. When I couldn’t find the support I needed in my immediate vicinity, I could reach out over the miles, type an SOS, and get instant wisdom, advice, and compassion. I could then draw from that support when and where I needed it (and back then I needed it a lot). Over the years many of these “strangers” have been my lifeline and many have become my dear friends. Fourteen years of survivorship later, I still periodically turn to my cyberfamily, but like many who have been part of our community for over a decade, time can sometimes softened the sharp edges of fear, loss, and grief that surrounded my diagnosis, recurrence, genetic testing, and surgeries and my accompanying need for support.

It has been a while since I revisited the archives of our website. With over 300,000 posts in our current database and over 300,000 archived posts, our message boards are the single largest repository of the hereditary cancer experience. These postings are a wealth of wisdom, support, kindness, grief, and gratitude. After 14 years of advocacy, it’s easy to focus on the challenges, the frustrations, and the problems we have yet to solve. So revisiting the past is healthy, and provides me with an opportunity to remember old friends and reflect on my growth and the growth of the organization.   Occasionally I will encounter a post that stops me in my tracks and reminds me of the sacred and transcendent segments of my own hereditary cancer journey and that of our members.

The last Wednesday in September has been designated as Previvor Day, and this year it happens to fall on Yom Kippur. The convergence of the two led me to two message board posts from over a decade ago that currently reside in our Pearls of Wisdom forum, where older timeless posts live so that others can revisit them when needed.

The first pearl addresses Previvor Day. In the “I need a label” thread, our dear “Jordan,” who was a regular on our message boards back then, articulated what many in our community were feeling—that although they did not have cancer, they had experienced decisions, losses, and procedures that separated them from average-risk women, but they did not have a cancer diagnosis. Jordan posted:

“Ok, I have to admit. I need a label. Do we have one? You know, those that have the gene but have not had cancer. The ones going through all this research and deciding on proph surgeries, or not. We need more of a voice and a label, a name. I’ve never been one hung up on labels before but a lot has changed for me since this process begun. I feel if we had a label we could begin to have more of a voice. What are your thoughts? FORCE? Breast Cancer __________ (fill in the blank).” 

Jordan, and the group of high-risk women who shared her concerns, recognized that they were cancer stakeholders who shouldered a heavy burden: ongoing doctor appointments; frequent biopsies and screenings; fear; loss of relatives to cancer, and sometimes loss of breasts, ovaries, and fertility; and changes in body image, all due to the risk of cancer. Jordan also felt that uniting the segment of the community that didn’t have cancer could promote more awareness, prevention, and surveillance research, and begin to fill their huge unmet need for support and resources.

A sometimes serious and sometimes silly discussion of how to address this gap, both online and off, followed. The medical community at the time used the term “unaffected carrier” for someone who carries a mutation but isn’t affected by cancer. But in addition to sounding dismissive, that label didn’t include members of our community who were very high risk by virtue of a strong family history of cancer without a mutation, LCIS, or high exposure to radiation. Yet these people were living with the same concerns, fears, decisions, and need for support as others in our community. Eventually “previvor” (for “survivor of a predisposition to cancer”) was chosen as our label of choice, because we all felt that those living with high risk are survivors in their own right. Not everyone embraced the term initially (and many still don’t), but for that moment, previvor resonated with many and filled a need that would allow our community to unite and advocate on issues surrounding cancer risk, detection, and prevention. These issues were separate from resources and research focused on treatment but equally important.

“AmiH,” a member of FORCE’s board of directors and our volunteer webmaster, observed “that the word ‘survivor’ comes from the Latin root meaning ‘to live’.” That connection also resonated with many previvors who felt that the knowledge of their risk and the management options available to them increased their chance to live longer, healthier lives. Not everyone wants or likes a label, and we totally understand that. Some particularly dislike “previvor,” and we get that too. But being able to identify and validate an important group of high-risk stakeholders has led to a revolution resulting in much more awareness, resources, research, and support today than we ever had in the past.

The second pearl comes from a thread started by ‘SusanZ’ [Ziva] shortly after Jordan’s. “My guardian angel, a Yom Kippur lament” is one of the most heartwrenching articulations of previvorship. It captures the devastation and impact of HBOC on entire families. I hope you will read the entire thread, but here are some of the most poignant excerpts:

“Tonight is Yom Kippur. It is certainly a day to reflect on one’s own life. In the past, I have done that in a synagogue. This year I am doing that by my sister’s hospital bedside watching her die from breast cancer. I wanted desperately to ask her to be my guardian angel from heaven…I didn’t have the courage to ask this of her yet…the reality is that in her death she remains true to how she lived, she has continued to be my guardian angel by getting genetic testing. I have found out I am BRCA positive in time to protect myself. In her death she has saved my life, and the lives of many family members.”

 In a later post, Ziva writes,

“Tomorrow afternoon I have an appointment with my second PS [plastic surgeon]… and if there is no significant change in my sister’s status, I plan to walk across the hospital to his office and make that appointment. As Linda leaves this world I am going to fight to stay.”

“I am overwhelmed by your responses…Yesterday I did what I said I would. I kissed her good-bye…and marched across the hospital in defiance of this disease and met my 2nd PS [plastic surgeon].”

 and then this last heart-breaking post,

“My sister, Linda, died this evening at 6:30 as the Sukkot holiday rolled in. I closed my eyes and again asked my sister to forgive all my insults and past hurts that occur between people who love intensely, and be my guardian angel. Your support on this website has been so important to me. You are the ones who can really understand.”

Ziva and her family have remained involved with FORCE as passionate volunteers over the ensuing years, providing guidance, outreach, and support to others. Last night, 12 years after her initial post, Ziva revisited her thread and added these thought-provoking words:

“Well, it is 12 years now since I lost Linda, and all the above is still relevant and true for me. An update: I now have a beautiful and delightful 20-month old granddaughter named Maya Linda! I think she has my sister Linda’s smile and sometimes I feel Linda (and my mother) watching over us with love and grace. Maya Linda brings me the kind of joy I found so difficult to feel since my sister’s death. This is such a blessing. 

I believe there is something quite spiritual in sharing one’s stories with others who listen with respect and compassion and then listening to others willing to share their stories. In this way we can feel connected, significant, and develop courage. Thank you FORCE family for listening and sharing. Our connection gives me hope and courage.”

Ziva, thank you on behalf of all of us. As always your words have captured the essence of our community and of FORCE. This uniting of the community impacted by HBOC—those with cancer and those without—was the goal almost 14 years ago when I founded FORCE: to connect us through our shared experiences, and despite our differences to bring each of us courage, support, and hope for today and future generations.

Happy Previvor Day.

Be empowered and be well.

Sue