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.

Thoughts on Turning 50: Transformations

For many people, turning 50 is an unappreciated milestone that they would rather not acknowledge, but I feel differently. Some people find themselves going through a midlife crisis; me, I’m facing 50 by signing up and training for my first marathon!

Like most of us I’ve undergone many transformations in my life. Some have been intentional while others resulted from circumstances beyond my control. Recently while

at 26 I was neither fit nor happy

looking for old photos, I ran across some pictures of myself when I was in my 20s and 30s. I was not fit then, and I didn’t resemble the person I am now. At 50 I am the healthiest, most physically active, and most content that I have ever been in my life. Many people who have known me only in the last few years have commented that they can’t imagine me when I was not active, energetic, and happy. So running across photos of a younger me was a sobering reminder of the effort and motivation that it took for me to be where I am today.

Much of my motivation for becoming more fit was my breast cancer diagnosis at age 33 and a recurrence the following year. Both prompted me to advocate for myself and do everything I could to improve my chances of survival (increasingly, research validates the benefit of a healthy diet and active lifestyle for surviving cancer). My other motivation was my family. I lost my mother at a young age. Her weight and lack of fitness contributed to her young demise. I was determined not to repeat the same mistake; I wanted to be around as long as possible for my son!

Transforming myself to a marathon runner won’t be easy, but I’ve faced harder challenges and become stronger because of them. My most difficult transition came when I was diagnosed with breast cancer at age 33. All my life cancer had been a subject avoided or treated with dread. As I went through treatment I felt the stigma and isolation of cancer. Strangers approached me when I was out with my son, my face without eyebrows or lashes, my head without hair wrapped with a scarf that tipped them off that I was someone with cancer.  Some people offered advice or encouragement, but others treated me with pity. I didn’t like this negative attention, which left me feeling uncomfortable and devalued.

Almost as difficult was the transition to my post-cancer life. Even after treatment ended, I felt different from my friends and peers. Dealing with uncertainty about my future and post-treatment depression, I didn’t feel like I had anything to offer them. The transformation that allowed me to re-enter life, find a “new normal,” and make new friends post-cancer didn’t happen overnight. It was almost a decade before I was emotionally ready to make friends outside of the cancer survivor and previvor community.

Advocating for the HBOC community became more important and rewarding than being a vet.

My transformation from veterinarian to patient advocate was also gradual and not entirely voluntary. I wanted to be a veterinarian for as long as I can remember. Once I achieved my dream, I loved my practice and the work. I loved helping animals and people. But my motivation for founding FORCE and transitioning to director was more powerful than my love of veterinary medicine. There were many great practicing veterinarians but there was only one organization devoted to hereditary breast and ovarian cancer. My own isolation, confusion, and loneliness during my hereditary cancer journey led me to found FORCE so no one else would have to face the hereditary cancer journey alone.

Now at age 50 I’m in the best shape of my life and ready to take on a new challenge!

Now, as a 50-year-old—an age I never thought I would reach—I am ready to face a new challenge: entering the Marine Corps Marathon. My motivation is two-fold. Although I now love exercise and being fit, the demands of a marathon reach beyond fitness. It also requires commitment, discipline, perseverance, endurance, and focus. Training to run a marathon at age 50 is my way of choosing how I transition to middle age and being able to face the next half-century on my own terms. My other motivation is to benefit the community and organization that I have dedicated my life to serving. I hope that my marathon quest motivates others to try to achieve their goals. And importantly, I hope to raise funds for FORCE and encourage others to sign up for Team FORCE for the Marine Corps Marathon.

I am not a natural athlete; the photo of a younger me confirms this. If after a half-century this formerly sedentary survivor can transform herself into an athlete, anyone can do the same. I hope my efforts inspire others to pick their own goals, find their personal motivation, and pursue their own transformation.

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.

Weighing the Risks and Benefits of Screening Mammography

Two recent research articles have questioned the value of mammograms and opened up a dialogue about possible benefits and harms of screening for breast cancer. One study looked at mammography in the general population and the other in high-risk young women. Both studies raise interesting concerns, but neither provides the definitive answers needed to dismiss mammography as a screening tool.

The first article looked at large population-based statistics over three decades and concluded that although mammograms found more early cancers, they did not lead to a similar reduction in cancers diagnosed at a late stage. The authors conclude that screening mammograms are leading to the overdiagnosis and treatment of a substantial number of women. Based on these conclusions, the authors question the benefit of screening mammograms for the general population.

Our review of the research and conclusions of this article can be viewed here. Some of our concerns are:

• The study combines DCIS (a type of non-invasive cancer) and stage I breast cancer in the same category as “early-stage” breast cancer even though stage I breast cancer behaves differently than DCIS.
• The study was not designed to distinguish women by age or outcome.
• The authors imply that earlier diagnosis equals overtreatment. However, there are tests available that look at tumor samples to better determine which early-stage cancers are more likely to behave aggressively and which women would benefit from further treatment. If we don’t find these early cancers through screening then we lose an opportunity to tell which ones are more likely to become advanced.
• Changing screening practices to lower the number of women that are overdiagnosed could lead to an increase in women being diagnosed at a stage requiring more extensive treatment.

In an emotionally-charged opinion piece in the New York Times entitled “Cancer Survivor or Victim of Overdiagnosis?” one of the study authors made these recommendations:

“We must redesign screening protocols to reduce overdiagnosis or stop population-wide screening completely. Screening could be targeted instead to those at the highest risk of dying from breast cancer—women with strong family histories or genetic predispositions to the disease. These are the women who are most likely to benefit and least likely to be overdiagnosed.”

Personalizing screening recommendations based on risk makes sense. Unfortunately, the health care community doesn’t always use the risk-assessment tools available to help identify women in the highest risk category. Many women with BRCA mutations do not learn that they are high risk until they are diagnosed with breast cancer, often based on a screening mammogram. Changing screening guidelines will disproportionately hurt these women in our community.

The author also suggests:

“What should be done? First and foremost, tell the truth: women really do have a choice. While no one can dismiss the possibility that screening may help a tiny number of women, there’s no doubt that it leads many, many more to be treated for breast cancer unnecessarily. Women have to decide for themselves about the benefit and harms.” 

As someone on the receiving end of a mammogram call-back, and ultimately, a breast cancer diagnosis, I understand how anxiety-provoking screening and biopsies can be. Relaying to women the possible consequences if their screening finds an abnormality is critical. A balanced discussion should also include information about the possible consequences of a delayed diagnosis, the additional treatment that might be required for later-stage diagnosis, and the existence of decision-support tools such as Oncotype DX and Mammaprint and other technologies that can help determine which early stage cancers, once found, are more likely to behave aggressively.

The author goes on to state the following:

“But health care providers can also do better. They can look less hard for tiny cancers and precancers and put more effort into differentiating between consequential and inconsequential cancers.”

Research is ongoing to determine which cancers are more or less likely to behave aggressively. Currently we do have the technology to test breast tumors for markers of aggressive behavior. But these tests require detecting the tumors and sampling them through biopsy. I strenuously disagree with his suggestion that doctors “…look less hard for tiny cancers and precancers…”  and the assertion that diagnosing breast cancer at early stages equates to overdiagnosis and treatment. If we pass up the opportunity to find these abnormalities with mammograms and biopsy, we deprive women of critical information on which to base their health care decisions.

A second study raised interest and alarm about mammograms in high-risk women younger than age 30.  In this study researchers concluded that exposure to ionizing radiation before the age of 30 is associated with an increased risk of breast cancer. Closer review of this second article, however, highlights areas that warrant more examination before we eliminate mammograms as screening tools for young previvors. Questons have also been raised about this study’s design and conclusions. (You can read our full review of the study here.) Some of the concerns include:

• The increased breast cancer incidence when comparing those with no radiation exposure to those with any exposure between ages 20-39 was not statistically significant.
• The estimated radiation doses used in this paper were self-reported and therefore subject to “recall bias.”
• Although MRIs are very sensitive for finding abnormalities in the breast, mammograms find microcalcifications, small changes that can indicate an early cancer which are sometimes missed by MRIs. There is concern that in eliminating mammograms, some of early cancers might be missed until they are more advanced.

Members of the FORCE Scientific Advisory Board agree that the current study addresses a critical question that must be answered, but generally feel that the results of the current study are not conclusive. More research is needed to clarify the possible link between radiation exposure and increased cancer risk in BRCA1/2 carriers; expert panels will continue to update screening guidelines based on those future results.

Although imperfect, mammography does save lives, and we must apply all the means we have to save as many lives as we can.  More research is needed to determine if the harms of diagnosis and treatment outweigh the consequences of missing cancers, and to provide a clearer understanding of how many more lives will be lost if guidelines are changed to remove the recommendation of screening mammography. If policy-makers choose a shared decision-making strategy for breast screening, all factors must be shared with each woman to help her make her own informed decision. In order to maximize breast cancer outcomes, the health care community needs to assure that women have access to qualified experts who can help assess their risk for breast cancer. For high-risk women, experts concur that the benefits of screening with mammograms and MRI outweigh the risks.

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.

HBOC Week 2012: A Call to Arms

As we begin HBOC Week and approach Previvor Day 2012, I am again reminded of how far we have come and how far we still have to go in the fight against hereditary cancer.  The growth of our organization, message boards, mailing lists, and Facebook and Twitter pages tells the story: more people than ever are aware of hereditary cancer risk and are turning to FORCE for information, support, and resources. This is all good news, but at a recent meeting at the Centers for Disease Control (CDC), the Director of the Office of Public Health Genomics, Dr. Muin Khoury, emphasized that most people who are at inherited high risk for cancer are unaware of their status. Recognizing that identification of people with BRCA and Lynch Syndrome mutations and offering medical intervention on their behalf can save lives, the CDC is now working on an initiative to integrate genomic education and awareness into the states’ Departments of Health.

These programs are sorely needed. On a daily basis through our programs we hear from people who are unaware of their high cancer risk or their options to manage it. The tales we hear illustrate how much work is yet to be done. We hear of high-risk women who are denied breast cancer screening and told that they are too young to have mammograms or that they do not need MRIs, survivors who are not aware of their high risk for future cancers, and people who meet expert guidelines for genetics evaluation but are not referred for genetic counseling. Media reports on screening guidelines often omit the fact that recommendations for people of average risk are not adequate for those who fall in the high-risk range. Some vocal individuals and groups malign genetic evaluation and risk management as unimportant or overtreatment. And stories like the one recently published on BloombergBusinessweek.com show how patients pay the price when health care providers who lack training in genetics misinterpret test results.

But despite these setbacks we have had a lot of wins. Earlier this year a generous gift from Mindy and Jon Gray created the Basser Research Center for BRCA1 and BRCA2 at the University of Pennsylvania. It is the first comprehensive center dedicated solely to the pursuit of research and provision of care relevant to BRCA1 and BRCA2. The United States Preventive Services Task Force incorporated information about BRCA into their recommendations for ovarian and prostate cancer screening. The CDC’s Actions to Save Lives Now, a workshop on incorporating genomics into public health, focused on bringing the public lifesaving education and awareness, and that’s a great step forward. In a few weeks we will host our 7^th annual Joining FORCEs Against Hereditary Cancer Conference with record-breaking attendance and participation.

HBOC Week/Previvor Day logo

As today marks the start of the third National HBOC Awareness Week and next Wednesday is Previvor Day, our goal is to attract more attention than ever. Let’s focus on the positive, and use this opportunity to save lives through education. 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 eduation, support, and resources they need to make informed decisions about their risk.

13 Things That Jewish People Should Know About Hereditary Breast and Ovarian Cancer

Before I was diagnosed with breast cancer at age 33, cancer was not on my radar. Despite the fact that my paternal grandmother had died young of so-called “abdominal cancer,” none of my health care providers indicated that I might be at high risk for cancer. My health care team treated my diagnosis of young-onset breast cancer like a lightning bolt out of the sky. It wasn’t until after my initial treatment (a unilateral mastectomy) that I read a magazine article and learned of several significant red flags for an inherited BRCA mutation. After reading the article I became concerned that my cancer might be hereditary. The article talked about the link between young-onset breast cancer (like mine!) and ovarian cancer (which my grandmother likely had) and BRCA mutations. It also mentioned the relevance of a family’s health history on the paternal side (in my case the only cancer in my family was on my father’s side). No doctor had ever expressed interest in the cancer on my father’s side of the family. Perhaps the detail that was most surprising to me was the high prevalence of BRCA mutations in people of Easter European Jewish descent. All of the factors mentioned in the article which raised the suspicion of a mutation applied to my situation. Had I known this information before my mastectomy, I would have pursued genetic counseling and testing and made different surgical decisions at the time of my diagnosis.

Even now, 16 years after my diagnosis, as I give presentations on hereditary cancer, I still frequently meet Jewish people who have no idea of the high prevalence of BRCA mutations in this community. Most Jewish people are aware of the dangers of Tay-Sachs disease, another genetic disorder which is also prevalent in Jewish populations. Yet there are still many people who are Jewish and have a family history of cancer who have never heard of BRCA mutations and are unaware of the availability of genetic counseling and testing. Learning about BRCA   almost a year after my initial diagnosis of breast cancer was eye-opening. I learned the importance of people doing their own researching and advocating when it comes to health care decisions.

In keeping with our “13 Things” theme during 2012, I present my list of what Jewish people should know about hereditary breast and ovarian cancer, with the hope that this list will be spread far and wide beyond the FORCE community in order to save lives.

1. BRCA mutations have been found in people of every ethnicity. But people of Eastern European Jewish ancestry have the highest known incidence of BRCA mutations, and hereditary breast and ovarian cancer.
2. About 1 in 40 people of Jewish decent have a BRCA mutation, about 10-fold higher than other populations.
3. Women with a BRCA mutation have up to an 85% lifetime risk for breast cancer and a 50% lifetime risk for ovarian cancer.
4. About 40% of Jewish women with ovarian/fallopian tube cancer and 20% who have premenopausal breast cancer have a BRCA mutation.
5. BRCA mutations are associated with increased risk for several types of cancer, including breast (both male and female), ovarian, fallopian tube, primary peritoneal, pancreatic, melanoma, and prostate .
6. Each child of an affected parent has a 50% chance of inheriting a BRCA mutation.
7. BRCA mutations can be passed down equally from fathers or mothers to sons or daughters.
8. Beginning at age 40, men with BRCA mutations should discuss with their doctor the benefits, limitations and risks of prostate screening. Preliminary research suggests that prostate cancer in men with a BRCA mutation may be more aggressive than prostate cancer in men who do not have a BRCA mutation. Men with BRCA mutations are at risk for melanoma, male breast and pancreatic cancer as well.
9. People who test positive for a BRCA mutation have options to lower their risk for cancer or detect it at an earlier, more treatable stage.
10. The majority of BRCA mutations in Jewish people occur in one of three genetic sites. Genetic testing usually begins with a Multisite 3 panel that looks for these common mutations and is less expensive than full BRCA testing.
11. In couples where both individuals have a BRCA2 mutation, it is possible for children to inherit a rare and deadly disease known as Fanconi Anemia, which is more common in people of Jewish descent. Couples concerned about this possibility should consult with a genetics expert.
12. Genetic testing for BRCA is performed from a blood sample or cheek swab.  The test itself is simple, but it is not always straightforward. Consulting with a genetic counselor is the best way to assure the correct test is ordered, results are properly interpreted and an appropriate course of action is discussed.
13. The majority of people who have a BRCA mutation or a family history of cancer are unaware of their increased risk for hereditary cancer.  Awareness is critical to saving lives.

Visit our website for more information about genetic counseling and testing. Visit our FORCE in the Jewish Community page to watch our video and learn about ways you can help raise awareness about BRCA in Jewish people.

Lucky 21 – For Dan

I know that this post is a departure from our “13 things” theme. But it was important for me to share this post with our community. I have said in the past that FORCE was founded on the principle that “no one should face hereditary cancer alone.” I have been blessed with a partner who has always supported my choices. My wish is for all people facing hereditary cancer to find the support they need. Please remember that you can always reach out to the FORCE community, we are here for you.

When I was 19, I liked to gamble. My dad would take me to the casinos in Las Vegas and show me how. Twenty-one was my game and nothing felt better than hitting that blackjack. I always felt so lucky when I won.

I met you 29 years ago, at age 20, just barely out of my teens. I was still in undergraduate school and chasing my lifelong dream…to be a veterinarian. As dating turned into something more serious, I began to suspect how special you were. Still I had no idea how fortunate I was to find you. The back massages you gave me helped alleviate the knots as I spent hours hunched over books studying. You were working three jobs to help pay the bills.

When I was accepted into vet school, you dropped everything and left your friends to follow me as I continued following my dream. Vet school was more challenging than I expected academically and socially. You continued to support me through my all-night study marathons, and even after I graduated, with my 60 to 80 hour-per-week internship.

And on this day 21 years ago we eloped. Too busy to plan a wedding, we went to the County courthouse to trade our vows. We agreed it was the relationship and not the ceremony that makes a marriage. A year later you followed me home to Florida, far away from California, which you loved and far away from your Kentucky roots.  My late evenings changed from all-nighters studying to late night emergency work at our busy practice. Still you supported me. And when we decided to expand our family and become parents, it was your devotion to fatherhood that allowed me to continue to grow my practice with a young child at home.

And as we prepared to expand our family even more, our lives took a very unexpected turn when I was diagnosed “out-of-the-blue” with breast cancer.  You held my hand through my biopsies and surgeries and assured me I wouldn’t go through it alone. Mastectomy was recommended—my cancer was caught early but they couldn’t get it all with lumpectomy—you helped me research and you supported my decisions, even as you assured me you would love me with or without a reconstructed breast. Your patience and love hastened my recovery. When the unthinkable happened and my cancer came back in my lymph nodes a short nine months after treatment, I panicked. But you never wavered in your faith that all would be okay. You reassured me every step of the way that we were in this together.

When it was clear that the best medical decision was to move to another state for care at a major cancer center, you never questioned it. You packed up our house with our toddler in tow as we moved 1,100 miles away from our home, friends, and family for nine months. Together we faced medical debt exacerbated by my inability to work while in treatment. And when I learned I had a BRCA mutation, you took it in stride, even though it meant more decisions, surgeries, medical debt, travel, and risk. Your solid devotion and love lifted me through the roughest spots. My 16 years of survivorship are a testimony to the wisdom of our chosen path.

You loved me bald, nauseous, with a port coming out of my chest, and drains coming out of my hips. You held me as I grieved the loss of my fertility even as you grieved this loss yourself. You carried me through unrelenting uncertainty, post-treatment depression, loss of my libido, and oppressive anxiety.

You endorsed every decision I made. You must have felt alone at times, like the New Years Eve 13 years ago I spent starting a new organization while you were alone on the couch watching TV as the ball dropped over Times Square. Nine years ago, after all the training and sacrifices for my veterinary degree, when I changed my career to direct FORCE full time, you never showed any indication of doubt, recrimination, regret, or resentment. You never hinted that maybe these were rash decisions. You always saw the big picture. You were honored to help the families that had lost so much to cancer.

On this date in 2010 and 2011 you spent our anniversary volunteering and working your tail off at our FORCE conference. You were entirely immersed in it. And as our attendees sang “Happy Anniversary,” I knew that I could never repay your commitment and selflessness that has allowed me to follow my dreams.

Through the challenges, indecision, and uncertainty your love has always been the clear, shining beacon that has guided my way. When I stood up for social injustices, you always stood right beside me, shielding me from the fallout. Since we met, I have seldom felt alone or isolated. As you have always made clear, we are in this journey together.

Dan, I don’t need to gamble any more. I hit the jackpot when I met you. So on our lucky 21^st anniversary I wanted to take a moment to thank you for being my best friend and my biggest supporter and for making my dreams possible. When I look at all the big things we have accomplished together—building a family, raising a child, advocating for a community—and I think of the moments of love, joy, and romance in between, I can see how truly special our relationship and life together are and how fortunate we are to have each other.

A Public Response to Dr. Ivan Oransky

To put this post in context, I was forwarded the link to this webcast from the recent TedMed Conference. I suggest watching this presentation by Dr. Ivan Oransky prior to reading the following blog.

Dear Dr. Oransky,

I recently watched your TedMed presentation and I share your concerns about medical overtreatment of certain conditions and the importance of weighing risk and harm when considering medical interventions. I agree with your point that not all medical tests and interventions have clinical value. I also agree that all stakeholders should share the responsibility for appropriately applying medical technology based on evidence and outcomes. However, I disagree with some of your statements, and I feel compelled to correct what I believe is a misunderstanding on your part about the term “previvor,” and the intent of the advocacy group FORCE in coining and using the term.

In my opinion, your assertion that advocacy groups use “previvor” to make more people feel they are at risk and raise more funds is incorrect. I founded FORCE in 1999, not to make money, but to ensure that people have access to credible information about hereditary cancer, that hereditary cancer research continues to provide better options, and that no one must face it alone. FORCE does not inflate people’s risk. We refer people to genetics experts based on professional consensus guidelines published by the National Comprehensive Cancer Network (NCCN).

Further, previvor is a term developed for a group of people who carry a mutation that confers a high cancer risk in their lifetime. FORCE is a national non-profit organization with a mission to serve individuals and families with a BRCA gene mutation or hereditary cancer. We coined the term to refer to individuals who are genetically predisposed to cancer but have not been diagnosed. The term was a response to a plea by one of our members who lost her mother to cancer at a young age. Learning that she had inherited a BRCA1 mutation and potentially faced the same fate, she sacrificed her own breasts, ovaries, and fertility to reduce her very high risk. Yet she felt dismissed and marginalized by people who did not understand her situation.  She articulated what many in our community felt: they needed and wanted a way to collectively organize, support each other, and advocate for resources to address their unmet needs.

My own breast cancer was diagnosed at age 33 and recurred the year following my initial treatment. I endured chemotherapy, radiation, and an increased likelihood of an early death from cancer. My son was only two years old at the time. I was forced to take a leave of absence from my work during treatment and went into medical debt to pay hospital and treatment costs. Had I known of my inherited predisposition at the time I would have taken steps to avoid cancer or detect it earlier. My experience is just one illustration of the financial, emotional, and physical costs of not knowing about a genetic predisposition to disease. These burdens impact entire families and can affect long-term quality of life. Many women pay with their lives.

Too many hereditary cancer families have watched their loved ones battle and too often lose their lives to the disease. They want to know what they can do to avoid the same fate for themselves and their own children. They face lifetime risks for cancer as high as 90%. Their risk-management options—preemptive surgery, risk-reducing medications, and heightened surveillance—are not without side effects or other risks. complex information about risk and risk-management and using it to make informed decisions. Although risk-management options are not ideal, most genetics professionals concur that hereditary cancer risk assessment and associated interventions have clinical utility. Research from peer-reviewed journals demonstrates that risk-management options can lower cancer-associated and overall mortality in the highest-risk cohort.

As an organization whose mission includes education, FORCE understands the challenges of presenting complex information in a balanced, understandable, compelling, and humane fashion. We take this responsibility seriously and we frequently consult with our expert advisory board for guidance. It is my opinion that your representation of previvors and our advocacy for the community was neither balanced nor accurate. Your baseball analogy illustrated your point about overtreatment of pre-conditions, but you neglected to mention inherited cancer risk, the situation for which the term was established. You cited “pre-acne” as an example of the absurdity of treating a precondition, even though the consequences of a diagnosis of acne and a diagnosis of cancer are not remotely the same. Women with BRCA mutations have elevated lifetime risk of developing breast and ovarian cancer that is many times higher than the general population. They are more likely to develop aggressive cancers and at a younger age when they are less likely to be screened. Thousands of women die from these cancers annually. Given these facts, the example of pre-acne is not a realistic comparison to inherited cancer risk and in my opinion insults a group of people with a very serious set of medical concerns.

Members of our community have an inherited mutation that leads to changes on a cellular level, which put them at very high risk for disease. Although our genetic differences may not be obvious on the surface they cause challenges that separate us from other people who do not possess these mutations. Ignorance and ridicule directed at people with medical challenges of any type are inappropriate.

I hope that you will provide a clarification of your statements about the meaning of the word previvor to include the fact that it was coined to describe and empower a specific group of people at very high risk for a deadly disease like cancer. Further, I encourage you to use your role as an experienced medical journalist and professor to delve more deeply into the difficult issues of people with BRCA mutations. In doing so you have the potential to make a positive impact on a lot of people.

I am not a baseball player, Mr. Oransky, but I do play tennis. In tennis when you do not swing at the ball, you lose the point. People with a BRCA or other inherited cancer-predisposing mutation face extraordinary risk for a disease that is too often fatal. Many of us have lost so much to cancer. Not swinging at a disease that has a high likelihood of coming our way is not a wise option.