Maximizing Access to BRCA Testing by Involving Genetics Experts

Note: The below is an updated version of a post in 2008 right after the documentary In the Family was released, and actress Christina Applegate announced she had a BRCA 1 mutation. Five years later, this post is more relevant than ever. 

As the dust clears since Angelina Jolie went public with her BRCA status, the impact of her revelation has been mixed. On the positive side, the increased awareness of HBOC has opened up a public dialogue on genetic counseling, testing, cancer prevention, and access to care and has encouraged people to educate themselves about these topics. More people are considering their family history of cancer, pursuing genetic counseling and testing, and learning their options to prevent or to detect cancer earlier. Following these steps will save lives. Unfortunately, people’s initial inquiries about testing are not always met with credible information. We know from experience that where people go for additional information, resources, and support matters for their outcomes. FORCE has documented cases where people received inaccurate information about genetic testing which led to negative health consequences.

Fortunately, many people are finding their way to the expert-reviewed information and resources from FORCE and are being referred to genetics professionals. Calls to our toll free helpline have increased in direct proportion to media reports about BRCA. One of the frequent requests we receive is about financial assistance for genetic testing. Many of these calls are from individuals who have a family history of cancer and health insurance, but their insurance has denied covering genetic testing.

Many of these insurance denials and high out-of-pocket costs related to testing occur because people have not first met 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 and risk assessment for the entire family. Some of these insurance denials stem from an uninformed health care provider ordering the wrong test or not identifying the best first person in a family to receive testing.

The high cost of genetic testing for BRCA is due to the fact that only one company—Myriad Genetics—can perform the gene test in the United States. They were granted exclusive patents on the BRCA genes and consequently control everything about BRCA testing, including the price. Even as the cost of genetic technology has decreased, Myriad keeps raising the price of their BRCA test.

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 genetic counselor prior to genetic testing can make 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, will pay for both genetic counseling and testing. The Patient Protection and Affordable Care Act also outlines that people who meet certain guidelines qualify for genetic counseling and testing which must be covered by their insurance without copay or deductible. A team of genetics and cancer experts can be good advocates for insurance coverage of genetic testing.

When genetic testing proceeds without counseling there is a higher likelihood of inappropriate or costlier testing. Myriad is the only entity who stands to benefits from inappropriate BRCA testing. In 2009, FORCE presented testimony to the Secretary of Health’s Advisory Committee on Genetics outlining our concerns about the aggressive marketing that was leading to increased cost and harm to our community. These concerns still remain true.

The American Civil Liberties Union (ACLU) has filed a lawsuit to invalidate Myriad’s patents. FORCE has filed an Amicus Brief in support of the ACLU’s case. The Supreme Court has heard the case and they are expected to rule by this summer. Until the cost of genetic testing goes down, genetic testing will remain out of reach for too many people, even for those who meet standard-of-care guidelines. On a national level, financial support is 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. For people whose insurance does not cover the full cost of testing, co-pay assistance is available through the Cancer Resource Foundation. Regionally, FORCE has been able to navigate many people who contact us for assistance to programs in their area but there are still many gaps in access to care.

For the uninsured or underinsured women 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. Patient Services Incorporated (PSI) has a program funded by Right Action for Women which covers the cost for MRI for eligible young high-risk women. The National Breast and Cervical Cancer Early Detection Program, provides free mammograms for women over 40. Gaps still remain for financial assistance for breast MRI for high-risk women over age 40 and for mammograms for women younger than age 40. Financial resources for women who choose to undergo  prophylactic surgery is even more limited. Like most disparity issues in health care, the needs are many and existing resources are few.

With the media spotlight on hereditary cancer, and demand for BRCA testing increasing, FORCE has continued to emphasize the importance of referral to appropriate experts for genetic counseling before and after genetic testing. Until the disparity and cost of testing issues are resolved, 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, is to include genetic counseling with experts prior to the ordering of genetic tests.

Every Story Matters

Since Angelina Jolie recently shared her personal experience with genetic testing and prophylactic surgery in the New York Times, public awareness of hereditary cancer is at an all-time high. The media surrounding Ms. Jolie’s revelations has also provided unparalleled opportunities for members of the HBOC community to share their personal accounts as well.

How did you learn about hereditary cancer? Was it a chance meeting with someone who was high risk? A brochure? A TV health show? For me, it was a magazine article I read back in 1997. When I was diagnosed with breast cancer at age 33, my doctors recommended a single mastectomy on one side, but they never told me about genetic counseling or testing, despite my having several red flags for a hereditary syndrome: young onset breast cancer, Jewish background, and a paternal grandmother who died young of abdominal cancer. I certainly would have made different surgical choices if I had known I carried a mutation. The article motivated me to pursue genetic counseling and testing, and ultimately, I chose prophylactic surgery, which discovered early cancer in my healthy breast.

All of our stories are important. Each story we share and every article about HBOC raises awareness and provides an opportunity for someone to recognize himself or herself in the writing and to pursue genetic counseling, testing, and risk-management options.

In a brilliant example of how awareness can save lives, reporter Stacey Sager first shared her hereditary cancer story on WABC-TV in New York in October 2011. Stacey was on a campaign to raise awareness and save lives. A 13-year breast cancer survivor at the time, Stacey had undergone testing for BRCA and found that she carried a BRCA1 mutation. Testing and BSO saved her life. As Stacey bravely allowed cameras to document her BSO, early precancerous changes were found in her fallopian tubes. (Ovarian cancer is rarely found early, other than during prophylactic surgery.) When Stacey wrote a guest blog for Thoughts from FORCE, a reader responded with the following comment, “For years my doctors have been trying to get me to take the BRCA testing because of my family cancer history, but I simply was not ready. After watching your televised story I went to the doctor the next week for my BRCA test.”

Stacey’s story resonated with and motivated more than one person. Celebrity singer/songwriter Kara DioGuardi happened to catch Stacey’s story while in New York City while she was appearing in the Broadway production of Chicago. Kara, who was interviewed by People magazine, shared that a chance viewing of Stacey’s story changed her life. Kara knew about her family history of cancer, but she didn’t know about BRCA testing until that crystalizing moment. When she returned to L.A., she immediately sought care for genetic testing, and then underwent BSO. A dear friend who agreed to be a surrogate for Kara and her husband was implanted with Kara’s last remaining embryo from prior IVF and carried their baby to term; little Greyson is now 3 months old. Kara shares more of her story in a moving interview where she gets to meet Stacey in person and thanks her for publicly sharing her story and possibly saving her life.

Experts estimate that less than 10% of the almost 1 million people in the United States with a mutation are aware of their high-risk status. We know that risk assessment and intervention can improve survival for high-risk individuals. But people cannot take action if they are unaware of their risk. It is up to us to raise the profile of HBOC until every person has access to the tools, information, and health care experts to assess their risk, and every high-risk person has the education, support, and resources they need to make informed decisions about their risk.

In her Voices of FORCE account for our Joining FORCEs newsletter, member Lita Poehlman shared how a chance meeting with a FORCE member led her to genetic counseling and testing, and subsequent prophylactic surgery discovered precancerous changes. She credits that chance meeting with saving her life. These personal anecdotes remind us that every act of sharing is significant and every story matters!

Other publications share accounts from the HBOC community, including several  memoirs: Previvors, Pretty Is What Changes, What We Have, Apron Strings, Beyond the Pink Moon, and Pink Moon Lovelies. The documentary In the Family (which is available for free viewing online until May 26) follows the intimate story of filmmaker Joanna Rudnick and several families facing hereditary cancer. Our community blog page has links to the HBOC  blogosphere, and the Voices of FORCE section of the website is filled with your stories. You can add your story and voice to our pages. Writing and sharing your accounts raises awareness about the impact that hereditary cancer has on everyday people, inspires others to learn more, engenders compassion and understanding for our community, and saves lives.

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.

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.

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.

13 Things About Breast Reconstruction

A guest blog by Kathy Steligo

Although many women choose to forego breast reconstruction, it is almost always an option after mastectomy. Research shows that reconstruction can improve psychological well-being and quality of life, and result in improved body image and self-esteem. Most women are not informed about breast reconstruction before their mastectomy, however, so it pays to do your homework to discover and understand the benefits and limitation of all your alternatives.

Breast reconstruction is a topic of interest to our community, because so many of us face mastectomy to either treat or prevent breast cancer. So we’re very happy to bring you this month’s blog. In keeping with our 2012 “13 Things” theme, we present 13 informational tidbits about reconstruction.

We also recommend two new publications to help with your decision-making process. Our new Show & Tell book includes photos and personal comments from FORCE members who have had reconstruction. And the long-awaited 3^rd edition of The Breast Reconstruction Guidebook hit the streets on November 8 (you can review the Table of Contents on the link above). The FORCE Post Mastectomy Photo Gallery is another resource for viewing post-mastectomy photos (and uploading your own photos to share with others).

1. New breasts can be reconstructed at any time following mastectomy, even years later, but there are definite cosmetic advantages to immediate reconstruction that is performed simultaneously with mastectomy. Immediate procedures allow for minimized mastectomy incisions that are made to facilitate reconstruction.
2. Reconstruction doesn’t restore sensation that is lost when tissue is removed during mastectomy. Most women have very little sensation in their reconstructed breasts. Much of the area remains permanently numb, although minimal feeling does return as some nerves regenerate. Generally, some feeling is recovered in the upper portion or outer perimeter of the breast in the areas that are farthest from the mastectomy incision. Nor do reconstructed nipples have sensation or response. Although they look quite real, they lack nerves that produce feeling in the skin. Women with tissue flaps often regain more feeling than women with implants, because the fine nerves in the flaps regrow once they are transferred to the chest.
3. Many women are candidates for nipple-sparing or areola-sparing mastectomies, which require a breast surgeon who is experienced with these procedures. (Cancer originating in the nipple is rare; most women’s nipples do not include the intraductal infrastructure that supports formation of breast cancer cells.) Healthy nipples on reconstructed breasts don’t always retain natural sensation, because much of the underlying nerve system is destroyed when breast tissue is removed. Areola-sparing mastectomies remove the nipple but preserve the pigmented skin surrounding it.
4. Independent review of hundreds of scientific papers has identified no proven link between implants and systemic disease or autoimmune disorders.
5. Physicians cannot predict which women will have problems with implants, but having radiation therapy compromises blood flow to the skin, which increases the likelihood of capsular contracture and other problematic issues.
6. Implants remain the same size over time, while breasts rebuilt with your own tissue change according to fluctuations in your weight.
7. Some surgeons use hybrid expander-implants that are gradually filled with saline. When the desired size is reached, the fill valve is sealed and the expander-implant is left in place. No exchange surgery is required.
8. Plastic surgeons who perform traditional expander-to-implant surgery and attached tissue flap procedures that use skin, fat, and muscle are more common (and easier to find) than surgeons who provide direct-to-implant and muscle-sparing flap procedures.
9. Although they are still in the minority, more surgeons are performing muscle-sparing breast reconstruction procedures.
10. Expander-to-implant reconstruction requires a shorter surgery than a tissue flap operation, but the overall timeline is longer.
11. Fat grafting—liposuctioning fat from the body and transferring it to the new breast—is often used to improve symmetry, contour and other cosmetic defects. The process isn’t always completely successful, however, and often 50% of more of the transplanted fat is resorbed by the body. New methods of fat grafting may offer intriguing possibilities, keeping a greater percentage of transferred fat in the breast, and even building new breasts without surgery, but much more study is needed.
12. You can “train” for surgery. Being in the best possible physical condition will help your body weather surgery and recovery. You don’t have to attain the level of a professional athlete, but anything you do to strengthen your cardiovascular system and body will help you get back to your normal routine. If you smoke, you must refrain from doing so for at least three weeks before and after your surgery (maybe it will be the impetus you need to quit for good!) Smoking restricts blood flow throughout the body and can potentially compromise any surgery. It is particularly troublesome with flap reconstruction, because a portion or all of the new breast can die without a robust blood supply.
13. The Women’s Health and Cancer Rights Act of 1998 requires group health plans that cover mastectomy to also pay for breast reconstruction, including procedures that are required to attain symmetry or to address complications. The law, however, does not stipulate specific surgeons, hospitals or procedures. That is left to the terms of the health insurance policy.

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.

The Cavalry Has Arrived!

When I founded FORCE in 1999 it was in the early days of BRCA discovery and testing. I had my own BRCA testing in 1998, over a year after my diagnosis with breast cancer, and only after learning about hereditary cancer by reading a magazine article about BRCA. I immediately understood the significance and power of identifying people with genetic predisposition to cancer, with the goal of preventing cancer or detecting it early. But the technology was met with suspicion and alarm by many individuals and groups, even in the face of emerging research that documented the value of identifying those with a BRCA mutation.

I spent a good portion of FORCE’s early years explaining why our community was important. Back then the hereditary cancer community was frequently dismissed or minimized, emphasizing the fact that we were a small subset of a larger whole. Granted, we don’t represent a majority of the cancer community, but we shoulder a disproportionate cancer burden. And because of our extraordinary high risk for cancer and the generational aspects of inherited cancers, HBOC individuals and families are an overburdened and under-resourced community. We require unique research and resources that provide information and evidence-based solutions for the extraordinary issues we face.

We worked hard in those formative years to raise awareness, unite our community, and assure that both survivors and previvors were acknowledged as cancer stakeholders who had a say and a place at the table. We fought for awareness, educated people on the differences between hereditary and sporadic cancer, advocated for better early detection and risk-reduction options, and helped people make informed decisions. Along the way, we were often asked to justify the prophylactic options for risk-management, and even the need for a hereditary cancer advocacy group like FORCE.

As awareness has grown, FORCE has grown, and so has our voice in the cancer community. And yet there are still many areas of unmet needs when it comes to hereditary cancer clinical care and research. Although improvements have been made, current options for prevention, detection, and treatment of hereditary cancer are still inadequate. Too many people are being diagnosed with and succumbing to hereditary cancers, and the path to drug development and FDA approval for example for PARP inhibitors has been glacially slow. After14 years of passionate advocacy and incremental and modest gains, it would be easy to be discouraged. But as many of you know if you read my blogs, I also like to focus on achievements and advancements, and there have been many.

Once in a while, I have had the privilege to witness a landmark event, a game-changer for our community. Last Monday night was such an event. I was honored to be among over 200 people who attended the opening of the new Basser Research Center for BRCA within the Abramson Cancer Center of the University of Pennsylvania. Established through a transformative philanthropic gift from Mindy and Jon Gray, the center is dedicated to the memory of Mindy’s sister, Faith Basser, who succumbed to hereditary ovarian cancer. The center is devoted solely to research and provision of care relevant to BRCA1 and BRCA2. Not a dry eye could be seen as we watched a video that included Faith’s story and how she became the motivation for her family’s endowment. The video also included stories of members of our community, who shared the devastating toll of hereditary cancer on their families. That night, all of us who attended and watched the video, listened to the speakers, and met the Basser Research team understood the center’s clear, overarching message: HOPE. I was witnessing history being made and a new era for the HBOC community.

I was honored to be among over 200 people who attended the opening of the new Basser Research Center for BRCA

Certainly our community will continue to face challenges, hardship, disparity, and unmet needs. But we have champions and a path to a brighter and more optimistic future with the establishment of the first research center dedicated to the pursuit of better detection, prevention, treatment, survivorship, and supportive care for HBOC. As I told Jon and Mindy Gray when I thanked them for this amazing gift to our community, “the cavalry has arrived.”