Cancer Genetic Testing Should Be Performed in the Health Care Setting

by Lisa Schlager

There is a flood of information available about genetic tests for cancer risk in the media, and even at community events, such as health fairs and senior centers. If these promotions have caught your attention and you are considering testing, there is important information that you should know first.

Facing Our Risk of Cancer Empowered (FORCE) is a national nonprofit organization that provides resources to help people make informed decisions about genetic testing for cancer risk. National standard-of-care guidelines recommend genetic counseling with a qualified expert before and after genetic testing. FORCE agrees that talking to a health care provider with expertise in cancer genetics pre- and post-genetic testing is important. This helps assure that:

  • The right test is performed (there are many available) at a reliable, high-quality lab.
  • Your results are interpreted correctly.
  • You receive accurate information about what the results mean and your medical options.

When genetic testing for cancer risk is conducted outside of a health care setting—as described below—the likelihood of misinformation is high, which could lead to harm.

Tests Sold in Non-Health Care Settings

Members of our community have reported sales representatives aggressively promoting genetic tests directly to consumers at health fairs, senior living facilities, on Facebook, and in other non-medical settings. These sales representatives have been evasive about the actual lab performing the testing and have provided misleading information, making false promises of “free” genetic testing to people who don’t qualify and billing insurance companies or Medicare for tests which may not be medically necessary.

BRCA Testing Through 23andMe

In March 2018, the FDA approved marketing of 23andMe’s test for the three BRCA mutations most commonly found in people of Ashkenazi Jewish ancestry. Over 6,000 different mutations—in BRCA1, BRCA2 and other genes—are associated with an increased risk of cancer. The 23andMe BRCA test only looks for three of these many mutations (two in BRCA1 and one in BRCA2). This extremely limited test may provide people with a misleading understanding of their cancer risk. (in 2018, FORCE released a public statement to educate people about the limitations and drawbacks of this test.)

The FDA label warns people not to use the 23andMe BRCA test results to make medical decisions, and advises individuals to have a confirmatory test with a clinically certified lab to assure accuracy of the results. The agency also emphasizes “it is important for patients to consult their health care professional who can help them understand…their individual cancer risk.”

Using Ancestry Testing Data to Calculate Cancer Risk

Many companies (Ancestry, MyHeritage, 23andMe, etc.) offer genetic testing to help people locate relatives or learn more about their ethnicity. These tests are intended for recreational purposes and not meant to guide medical decision-making. Some third-party online programs (Promethease or Livewello, for example) allow people to submit their ancestry test results to discover additional information about their risk for cancer and other diseases. Ancestry tests, however, often do not produce comprehensive, high-quality DNA data.

FORCE has received numerous reports of people receiving incorrect information about their cancer risk after running DNA results through a third-party tool. A study published in 2018 revealed a high number of false positives in this type of information; as a result, people incorrectly thought they had a genetic mutation that increased their risk for cancer, which they do not have.

Further, it is impossible to know how many people receive false negative results, leading them to believe that they do not have a predisposition to a disease such as cancer when, in fact, they do have a mutation that increases their risk.

Genetic Testing is Regulated

You have a right to know the name of the lab performing your genetic testing. Beware of
representatives selling genetic tests for unnamed labs. Genetic tests are currently regulated by the FDA and CLIA. When ordering lab work such as a genetic test, health care providers typically order them through a trusted, CLIA-certified lab, which is regularly evaluated for quality assurance. The FDA aims to ensure that test marketing materials and claims are accurate, and that they address the information needs of the approved audience—health care providers or the public. If you have concerns or a complaint about a laboratory, you or your health care provider can file a complaint with CLIA and/or the FDA.

HBOC, FORCE, and the President’s Precision Medicine Initiative

pmilogoRecently, President Obama outlined his Precision Medicine Initiative, which generated a lot of buzz. If successful, the plan will move medical research toward personalized treatment options that are based on people’s genetics, environment, lifestyle, and individual preferences. I’m excited that the White House is recognizing and committing funding towards an approach to health care research that FORCE has been endorsing for 16 years. Since 1999, FORCE has been a leader in promoting personalized medicine research, and increasing access to advances resulting from this research. We’ve helped thousands of people make informed healthcare decisions surrounding hereditary cancer risk, prevention, detection, and treatment. We will offer our expertise and lessons learned over the past 16 years to assist the National Institutes of Health and other government agencies in the implementation of this initiative.

Highlights of the President’s plan, which correspond closely with much of FORCE’s longtime work and our future goals include:

  • Developing new cancer treatments based on genetic information
    Experts know that hereditary cancers develop and behave differently than sporadic cancers; they use this knowledge to develop new approaches to preventing and treating these cancers. FORCE has championed research of PARP inhibitors and other novel approaches against HBOC-related cancers. We continue to mobilize

    Lisa Schlager VP of Policy at FORCE testifies to the FDA in favor of Lynparza approval.

    FORCE VP, Lisa Schlager, testifies to FDA in favor of Lynparza approval.

    patients to enroll in clinical trials, and urge the FDA to facilitate development and approval of new therapies to fight hereditary cancers. This past December, our efforts were rewarded: the FDA approved Lynparza (olaparib), a PARP inhibitor therapy, to treat advanced hereditary ovarian cancer caused by BRCA1 or BRCA2 mutation in women who have received prior chemotherapy.

  • Identifying and addressing privacy issues associated with genetic medicine
    FORCE worked as a member of the Coalition for Genetic Fairness throughout its 13-year effort to ensure passage of the Genetic Information Nondiscrimination Act (GINA). Signed into law in 2008, GINA prohibits genetic discrimination in health insurance and employment. Throughout the legislative process, we regularly updated our ginacommunity about the issues, what we were doing, and what our members could do to hasten the passage of GINA. Even after the law was passed, we continued to educate with a survey to assess consumer knowledge about genetic discrimination. In 2009, we presented our findings, which were later published in a scientific journal, at the annual meeting of the American Society of Human Genetics. Our efforts to support GINA continue. We inform consumers about GINA laws, and are currently working on legislative protections against genetic discrimination in life and disability insurance.
  • Working with the FDA to establish a regulatory framework that includes genetic information
    In 2009, FORCE submitted testimony to the Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) objecting to the lack of a regulatory body to monitor certain aspects of genetic testing for consumers and health care providers. We have urged regulators to establish federal oversight of marketing of genetic tests, tracking of adverse events, and monitoring providers’ adherence to pre-testing genetic counseling requirements. As a direct result of our testimony, the FDA implemented a system to track adverse outcomes of testing. In ongoing communications, we encourage the FDA to consider the unique aspects of hereditary cancers in an effort to expedite development and approval of drugs specifically targeted to these diseases.
  • Screen Shot 2015-02-20 at 1.31.21 PMEmpowering patients in the era of personalized medicine
    Following delays of PARP inhibitor research, FORCE mobilized HBOC stakeholders to educate and inform health care providers and consumers to strategically increase enrollment in critical HBOC targeted therapy clinical trials. We continue to empowerindividuals to advocate for themselves and family members, and to participate fully in their healthcare decision making based on their own unique circumstances. FORCE provides straightforward, easy-to-understand material on all aspects of hereditary cancer, and timely medical, scientific, and genetic information from highly trained pi-newsletterexperts. We offer easily accessible peer-to-peer support—both in-person and virtually. FORCE also participates in many alliances; collaborating with academic institutions, other advocacy groups, and industry to facilitate better outcomes for our community members.
  • Creating a million-person, patient-powered research network
    Screen Shot 2015-02-20 at 1.51.34 PMFORCE is making impressive progress towards this goal. Our ABOUT Network is the only patient-powered research network built and governed by and for the HBOC community. One of only 29 networks participating in the development of the National Patient-Centered Clinical Research Network (PCORnet), ABOUT will connect health information and outcomes with the electronic health records of 70 million Americans. This highly innovative database is a government-funded initiative. According to Joe Selby, MD, MPH, Executive Director of the Patient-Centered Outcomes Research Institute, PCORnet will, “harness the power of health data from millions of patients, properly safeguarded, to conduct research more efficiently.” As part of PCORnet, ABOUT is well positioned to participate in the Precision Medicine Initiative. In fact, the Precision Medicine Initiative highlighted stories that demonstrate the power of personalized medicine. FORCE member and patient advocate Melanie Nix, who serves on the ABOUT Network Steering Committee was featured in the Precision Medicine Initiative blog (you can read more about Melanie’s story and why she joined ABOUT in our recent

    Melanie A Nix headshot

    Melanie Nix

    newsletter). To achieve our research goals quickly, ABOUT is seeking to enroll as many Americans as possible into the registry. By collecting real-world health care experiences, our research will drive improvements in the quality of health services; highlight best practices for preventing, diagnosing, and treating hereditary cancer; and ultimately improve future outcomes.

As pioneers and supporters of personalized medicine, FORCE will work hard to assure that this initiative will incentivize research, prioritize global access to quality care, and improve outcomes for people affected by HBOC. Along the way we will engage stakeholders to make sure that our efforts are responsive and representative by:

  • training members of our community to participate in research advocacy through our Screen Shot 2015-02-20 at 1.31.48 PMFRAT program
  • connecting trainees to opportunities where they can represent the HBOC community on research advisory boards and panels.
  • enlisting trained FRAT advocates to participate in our ABOUT Network governance and work groups to help determine how the research will be conducted.
  • using community input to generate unanswered questions needed to make informed medical decisions through our ABOUT Generator And Percolator (GAP) Tools.
  • collaborating with partners that can help us engage people from underrepresented populations.
  • providing members the opportunity to help prioritize research.
  • disseminating research findings to consumers and health care providers.

We look forward to working with our community, policymakers, government agencies, advocates, medical experts, and biotechnology companies to advance the conversation around personalized and precision medicine, while making sure that the interests and concerns of people with HBOC remain at the forefront of this initiative. Stay tuned!

Guest Blog: Join FORCEs at our 2015 HBOC Conference!

by guest blogger, Jane E. Herman

May Goren PhotographyWhen I boarded the flight for my first trip to Orlando in June 2011, my goal was not to hug Mickey Mouse or visit Cinderella’s Castle. Rather, my destination was the sixth annual Joining FORCEs Conference. Not knowing anyone who would be in attendance, I was – not unexpectedly – equal parts nervous and excited.

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Me and my mom.

During the course of the previous year, I’d lost my mom to breast cancer, tested positive for a BRCA2 gene mutation, and had a laparoscopic hysterectomy. Four weeks after the conference, I was scheduled for a prophylactic bilateral mastectomy and immediate reconstruction using my own abdominal tissue, which would be micro-surgically reconnected to create new breasts.

The only known mutation carrier in my family at the time, I had met a few BRCA sisters at meetings of New York City’s FORCE group, but I was hungry for more – more medical information, more quality-of-life tidbits, and, perhaps most of all, more (and deeper) connections with others who “get it.” I couldn’t wait to talk to people about my experiences – and learn about theirs – without having to start the conversation by explaining what a BRCA mutation is and how drastically it increased my lifetime risk of breast and ovarian cancer.

From the minute I climbed aboard the shuttle, I got exactly what I needed. Before we’d even left the airport, several fellow riders and I had already connected, sharing details of our BRCA and HBOC journeys for much of the trip to the hotel.

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I came alone to my first conference but soon bonded with kindred spirits.

The next two and a half days flew by in a kaleidoscope of attending large and small group sessions, networking, taking notes, sharing stories, swapping email addresses, strolling through the exhibit area (and making a purchase or two!), attending the ever-popular “show and tell” (for women only, of course), asking questions, and chatting one-on-one with doctors, genetics professionals, and many of the hundreds of BRCA sisters (and a few brothers) who joined me at the conference.

There were a few tears as well, especially when I talked with mother/daughter pairs traveling the BRCA road side-by-side. How I envied their togetherness, and, oh, how I longed for my own mother and for her to know about this thing that we shared. For every tear, however, there were a hundred hugs – and I don’t mean “air hugs.” I mean real, honest to goodness (if you’ll pardon the expression) boob-crushing hugs.

When I returned to Orlando in October 2012 for the seventh annual Joining FORCEs Conference, the hugs began as soon as I entered the hotel lobby.

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Dave Bushman provides helpful genealogy tips.

 

Words cannot begin to express my joy at seeing in person the friends with whom I’d been emailing, texting, and Facebooking for the last year. As in 2011, the days flew by in a whirlwind that was both the same and different from the previous gathering. Presentations by researchers and clinicians brought us up-to-date on the latest developments in a field that moves at lightning speed, while the exhibit hall, once again, offered fun jewelry, pretty scarves, useful products, and connections to an array of organizations whose work benefits members of the HBOC community. Perhaps most significant for me was that with my own mastectomy in the rearview mirror, I was able to “pay it forward” as a “show-er” during “show and tell,” proud of what I’d done and more than willing to share my experience – the good and the not-so-good – with those who were standing where I’d been just one year earlier.

May Goren Photography

FORCE volunteers bonding at 2014 conference

By June 2014, when the eighth annual Joining FORCEs Conference was held in Philadelphia (in partnership with the Basser Research Center for BRCA), I’d been an Outreach Coordinator for New York City FORCE for 18 months. My co-facilitator Laura and I not only drove together to Philadelphia, but also organized a group dinner at a local restaurant on Friday night so attendees from our NYC group could spend time together. In addition to all the things I’d come to know and love at the FORCE conferences – the large and small group sessions, the exhibit hall, the networking, the sharing, and, most especially, the hugs – this time around, my days also included early morning Outreach Coordinator meetings and several sessions designed specifically for participants in FORCE’s Research Advocate Training (FRAT) program.

Conference logo with tagline jpegNeedless to say, I’m eagerly awaiting this spring’s ninth annual Joining FORCEs Conference in Philadelphia for so many reasons. Registration is open now, and I hope to see you there!


Jane E. Herman
, an Outreach Coordinator in New York City, is the executive writer and editor at the Union for Reform Judaism. She maintains a slice-of-life blog, JanetheWriter.com, where, among other things, she writes often about her experiences as a BRCA2 mutation carrier.

 

Happy New Year, Happy Birthday, Sweet 16!

shutterstock_29561851New Year’s Day is always a nostalgic time for me. Sixteen years ago today, I founded FORCE, not because I made a conscious choice to start a nonprofit organization on New Year’s Day, but because following my recovery from cancer, that day signified the tipping point between my need to rejoin my life-in-progress as a veterinarian and my desire to affect positive change—through more information, research and resource—for the HBOC community.

The last 16 years have not always been easy, especially in the early days of FORCE, when the “organization” had a staff of just one person. Some years, I was already exhausted by New Year’s Eve and I was ready for the year to end. But this year is different. With a staff of 12 and over 120 volunteers, new and exciting initiatives including our ABOUT Network Research Registry (if you haven’t joined yet, please consider it), our newly-launched XRAYS Program, and an incredible win with FDA approval of a new agent for BRCA-associated ovarian cancer, I feel excited and energized for the new year.

I hope that our community feels energized too. In the spirit of shared enthusiasm, here is a list of things that people can do to effect positive change for themselves, for the HBOC community, and for FORCE:

 

A Game-Changing Holiday Gift for People with BRCA Mutations

Today is a landmark for the HBOC community!

After almost a decade of research, AstraZeneca has received FDA approval for Lynparza (also known as olaparib) for women with BRCA mutations who have ovarian, fallopian tube or primary peritoneal cancer, and who responded favorably to their initial treatment. This is the first FDA-approved PARP inhibitor, and it is a great win for the HBOC and BRCA community.

FORCE has been passionately advocating for PARP inhibitor research for the last eight years. At our Joining FORCEs conference in 2009, during our hereditary cancer research plenary, I made a personal vow to our community that FORCE would work tirelessly and do whatever it took to assure that the clinical trials on PARP inhibitors were fully enrolled, that the research was completed, and—if the agents worked—that we would advocate for FDA approval.

Lisa Schlager VP of Policy at FORCE testifies.

Lisa Schlager VP of Policy at FORCE testifies at FDA ODAC meeting.

This past June, we were one of a handful of advocacy organizations to testify at the FDA hearing of the Oncology Drug Advisory Committee (ODAC) in favor of accelerated FDA approval of this agent. Early word from the FDA was that more research was needed before it would approve olaparib.

PARP inhibitors are “targeted therapy” drugs that target tumors based on their specific biology. Developing these “smart” drugs requires a greater understanding of how cancer cells differ from other cells, and identifying cellular vulnerabilities. Targeted therapy uses specific treatments to attack the unique weaknesses of certain cancers based on their cellular genetic traits. PARP inhibitors block an enzyme used by cells to repair damage to their DNA. In people with BRCA mutations, PARP inhibitors may work by keeping cancer cells from repairing themselves once they’ve been damaged by chemotherapy, while sparing healthy cells.

Despite early positive findings, PARP inhibitor research almost came to a halt several years ago due in part to challenges arising from studying drugs that may only benefit small subsets of a larger cancer patient population. Fortunately, due to champions within the scientific, advocacy and biotech communities, the important research continued. FDA approval of Lynparza is the culmination of these ongoing efforts.

There is still much work to be done. Many clinical trials are enrolling cancer patients to pinpoint the best time to start treatment with PARP inhibitors in patients with ovarian cancer; determine whether these agents work equally well for BRCA-associated breast, pancreatic, and other cancers; and identify whether these agents benefit people who do not have BRCA mutations. We still desperately need our community to participate in these ongoing research studies. Still, FDA approval of olaparib for ovarian cancer sends an encouraging message to researchers that we hope will lead to new innovations for more effective detection, prevention and treatment for people with hereditary cancers.

This is an amazing holiday gift and game-changer for all members of our community. Oncologists now have a new weapon for treating hereditary ovarian cancer. This news will likely produce other benefits as well. We will undoubtedly see an increased uptake of genetic counseling and testing among women who are diagnosed with ovarian cancer, and whose treatment may be impacted by whether or not they carry a mutation. Identifying more people with a BRCA mutation will increase the numbers of people who can take part in lifesaving HBOC research. Having more people who are aware of their positive BRCA status will grow our community, increasing members who can advocate for positive change through resources, policy, and research. Finally, identifying more people who have BRCA mutations will raise the profile of hereditary cancer in the public eye.

On a personal note, as a cancer survivor, a person with a BRCA mutation, a relative of other high-risk family members, and a friend of people currently battling advanced hereditary cancer, this news gives me hope and comfort. Yet even as I celebrate with the community, I need to pause and reflect on the many brave and cherished soles for whom this progress did not come soon enough; Sherry Pedersen, Caryn Rosenberg, Linda Pedraza, Jan Finer, Debra Brooks, and too many more to name. You have all touched me in a profound way and inspired me to work harder to accelerate progress in HBOC research.

Finally, I would like to acknowledge all who played a role in this achievement: the scientists who work tirelessly to advance cancer research, the foundations and agencies that direct funding to HBOC research, the biotech companies that invest in greater options for this subset of the larger cancer community, and the brave people who volunteered for PARP inhibitor research studies. From the bottom of my heart…thank you!

 

 

Health Care Providers Can Help Accelerate Hereditary Cancer Research

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1 in 500 people (0.2% of the population) carries a BRCA mutation, yet we constitute about 10% of people with breast or ovarian cancer. The HBOC community shoulders a disproportionate cancer burden.

Why HBOC research is important
Hereditary cancers constitute a small subset of a larger disease state. About 7% of breast cancers and 18% of ovarian cancers are due to a BRCA mutation. The HBOC community shoulders a disproportionate cancer burden, facing lifetime cancer risks that are higher than any other known population. Our cancers tend to be younger onset and more aggressive, we are at risk for second and third primary cancer diagnoses, and our risk can be passed on to our children and shared with relatives. We are a subset of the larger cancer community, yet our cancers develop differently, more quickly, and may respond differently to treatments than sporadic cancers.

After years of advocacy, HBOC research is getting some well-deserved attention. But to continue this progress, we need to ensure that these studies enroll adequate numbers of patients. A previous blog touched on the complex, multifaceted challenges to HBOC research recruitment and the shared responsibility of all stakeholders to overcome these barriers. This blog focuses on specific barriers to HBOC research and the integral role health care professionals can play in overcoming these barriers to accelerate progress in preventing and treating hereditary cancers. 

Health care providers as partners in research recruitment
Patients trust and rely on their medical teams to provide the best care specific to their individual situations. Research shows that physicians play a key role in educating patients about research studies. Yet, the same studies also show that physicians do not always inform patients about clinical trials elsewhere due to institutional barriers and personal biases. For this reason we are asking health care providers to join FORCE in our campaign to promote awareness and participation in research among the HBOC community.  We ask that oncology health care providers consider the following for all their patients:

  • Refer patients who meet NCCN criteria for genetic evaluation as soon as possible after diagnosis.
  • Discuss the availability of clinical trials with newly diagnosed or newly relapsed patients.
  • Consider which clinical trial, including those outside the health care provider’s facility or practice, that might be the best match for a patient,
  • Inform patients if a particular treatment might impact their eligibility for a clinical trial. 
  • Refer patients to FORCE as a resource and to assist with clinical trial matching.

HBOC specific research studies
HBOC cancers develop due to the presence of a germ-line mutation in one of the BRCA genes. Scientists are researching how to exploit these deficits to better prevent or treat hereditary cancers. For example, PARP inhibitors, first studied in 2005, attack the weaknesses of BRCA-related cancer cells in repairing DNA damage. Despite promising results, delays and roadblocks have delayed the path to FDA approval; more than eight years later, we still have no FDA-approved PARP inhibitors, and people are still dying of hereditary cancers. Research of PARP inhibitors is finally progressing, with more HBOC-specific open studies urgently pursuing patient enrollment.  Failure to completely accrue these studies could derail future HBOC research by creating the perception that the HBOC community is not motivated to participate in research, and that as a cohort, we are too difficult to recruit. Health care providers can play a powerful role in surmounting enrollment obstacles by simply informing their patients about clinical trials.

Challenge: Competing clinical trials and matching patients
HBOC-specific clinical trials compete with each other for participants, and compete with larger, more numerous studies that are not limited to people with mutations. For example, a recent search of clinicaltrials.gov for U.S. treatment trials enrolling people with metastatic, BRCA-associated breast cancer returned 11 studies. A similar search for all metastatic breast cancer studies returned over 200 clinical trials with broader recruitment criteria. Of 60 advanced ovarian cancer treatment studies listed, just eight were specifically for patients with BRCA mutations. The implications are concerning for the HBOC community: a mutation carrier with advanced breast or ovarian cancer has a higher likelihood of finding and enrolling in a less-specific clinical trial than one of the few studies open to someone with their specific cancer and mutation type. 

Solution: Maintain awareness of HBOC clinical trials and refer appropriate patients to studies, even those at other institutions
We encourage all health care providers who work in oncology to stay updated on clinical trials that are recruiting HBOC patients. FORCE provides two helpful tools to do so: our Health Care Provider electronic updates (sign up here and choose the “Updates for Health Care Providers” option), and our online list of HBOC research.  Next month we will be launching an HBOC-specific clinical trials searchable database to better match patients to relevant clinical trials.

If your institution or practice has HBOC-related research that you would like to have included in our database, please send an overview and contact information for the study to Lisa Rezende at lisar@facingourrisk.org.

Challenge: Clinical trials are seen as a “last resort” and certain treatments may impact eligibility for studies
An erroneous perception exists that clinical trials are a “last resort” for treating patients who have progressed after several different therapies. Many patients report that they have been discouraged from participating in a trial because they haven’t exhausted all their treatment options yet. Additionally, in addition to studies for  those with advanced cancer, there are clinical trials enrolling HBOC patients for cancer prevention, earlier-stage disease, and maintenance therapy for patients who have completed treatment.

Further, certain treatments may affect a patient’s eligibility for some clinical trials. For example, newly-diagnosed breast cancer patients who undergo lumpectomy or mastectomy become ineligible for neo-adjuvant chemotherapy studies. Receiving a certain chemotherapy or a certain number of prior treatments may render patients ineligible for some PARP inhibitor studies.

Solution: Discuss clinical trials before beginning treatment
Because patients who do not receive the most up-to-date and comprehensive information about clinical trial options are less likely to make informed decisions about their care, health care providers should consider notifying patients about clinical trial options before starting treatment or resuming treatment after a recurrence. We encourage health care providers to inform hereditary cancer patients sooner rather than later about the existence of HBOC-specific research, even those at separate or competing facilities. Health care providers and patients can find relevant research studies listed on the FORCE website.

Challenge: Underutilized genetic testing
Research has shown that genetic counseling and testing are underutilized services for those who meet national guidelines. Every woman diagnosed with breast cancer at age 50 or younger, and every woman diagnosed with ovarian cancer at any age meets national consensus guidelines for referral for genetic counseling. Despite these national guidelines, a recent study showed that 57% of women diagnosed with breast cancer at age 50 or younger did not receive genetics evaluation.

Solution: Refer all patients who meet national guidelines for genetic counseling and testing

Every breast cancer patient who has a family history or who was diagnosed at or before age 50, and every ovarian cancer patient meets NCCN guidelines for referral for genetic evaluation. Although BRCA test results may affect some breast cancer surgical decisions, impact risk for future cancers, and can inform a patient’s relatives of their risk for cancer, genetic counseling and testing of newly diagnosed breast and ovarian cancer patients often does not receive high priority. Treatment clinical trials that specifically recruit people with BRCA-associated cancers provide one more reason for health care providers to recommend genetic evaluation to newly diagnosed breast and ovarian cancer patients.

Solving the problem of hereditary cancer requires a maintained, concerted effort. We hope our health care provider partners will read, consider, and share this blog with colleagues and follow these steps to accelerating research.

FORCE 15: Reasons to Join FORCEs and Attend Our 8th Annual Conference

Need a reason to attend this year’s Joining FORCEs Conference? Here are 15 good ones:

  1. It’s the largest annual gathering by and for the hereditary cancer community.  Be a part of this landmark event.
  2. We make the latest science understandable and accessible. Hear experts clearly explain the science of hereditary cancer and make the latest research and medical options understandable and accessible no matter where you are in the HBOC journey.conference1
  3. We cover every aspect of HBOC. View our agenda to see a complete list of the 48 separate lectures, workshops and networking sessions.
  4. Sessions are organized to help you find the information you most need.  Our conference content is aligned into tracks that focus on different groups.  View a list of suggested sessions based on your specific situation.
  5. We bring researchers to you.  You’ll hear the latest scientific findings presented first-hand by world-class experts, and have the unprecedented opportunity to speak one-on-one with researchers about your own pressing issues.dr_levine_round_table_small
  6. Benefit from the experience of others.  Meet, chat and bond with hundreds of others who share your concerns.  Hear the poignant personal stories of people just like you who have faced hereditary cancer.  Talk face-to-face with your virtual friends who have supported you on Facebook or the FORCE message boards. Build relationships that will last a lifetime.
  7. See and hear about women’s real post-mastectomy surgical results.  If you’re considering your surgical options, visit our Show & Tell room to chat with women who have already undergone mastectomy. Every type of reconstruction and mastectomy without reconstruction is showcased.  Meet and speak with plastic surgeons who perform these surgeries, and Kathy Steligo, author of The Breast Reconstruction Guidebook. Participate in our photo shoot to help other women make decisions about surgery.
  8. Gain information and support to help make important health care decisions.  Learn the latest information, guidelines, and emerging science to help you overcome one of the biggest challenges of living with HBOC: sorting through medical options so that you can make health care decisions that are right for you. From risk-management to fertility options, from emerging tools for cancer detection to long-term survivorship issues, from hormone replacement to enrolling in a clinical trial, our conference sessions will help you make decisions with the most up-to-date information.
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  9. Enroll in research.  Make a difference.  Learn about and enroll in studies that will offer better answers for ourselves and future generations.
  10. Give back to the community by volunteering. Learn about FORCE volunteer opportunities and meet our volunteer team.
  11. Meet our Spirit of Empowerment Award winners. Every year we honor people who contribute to the HBOC community and support the work of FORCE. This year we honor annual_awards_compassionawardcancer survivor Annie Parker, whose personal struggle with hereditary cancer is the basis for the Hollywood film, Decoding Annie Parker; Kara DioGuardi, GRAMMY-nominated songwriter, previvor and former American Idol judge; Stacey Sager, Channel 7 Eyewitness News reporter and two-time cancer survivor; the sister team of Sisco Berluti Jewelry, and others.
  12. Bond with family members. Sharing the conference with family members is a unique bonding experience that will help your loved ones to better understand your choices, and empower them to make their own informed health care decisions.

  13. Enjoy the new venue
    . Located in the heart of Philadelphia, our conference site  offers many amenities and is within walking distance to downtown dining, shop
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    ping and attractions, including Independence Hall and the Liberty Bell.  The clbcbellhonference offers great food, relaxation, opportunities to decompress, express yourself and play.
  14. Get fit, reclaim your health and well-being. Learn how you can make choices for a happier, healthier life. Sessions about exercise, nutrition, and integrative medicine provide information on living a healthy lifestyle. Improve your flexibility with yoga or try a heart-pumping Zumba workout. Attend the sexuality session or one of our “GirlsNight In” parties and reclaim your mojo.
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  15. Celebrate FORCE’s 15th Anniversary.  Help us blow out the candles and share birthday cake as we celebrate 15 years of fighting on behalf of the HBOC community.

A limited number of scholarships are available for those who would most benefit from attending but require financial support in order to participate. Visit our scholarship page to donate or apply.

See you in Philadelphia!

Patient-Centered Outcomes Research Institute (PCORI): Research Done Differently

What is PCORI?

The Patient-Centered Outcomes Research Institute (PCORI) is a new government-supported agency that approaches medical research with a focus on the patient to improve health outcomes. Aiming to answer medical questions that are most important to patients and collecting data from “real world settings,” this differs from traditional research, which typically occurs at large academic medical centers where scientists determine the research questions and priorities to be studied.

PCORI 101 is an easy-to-follow short video that outlines the institute’s research approach and goals.

Why was PCORI formed?

Hundreds of millions of dollars are poured into traditional research each year in the United States—research that is important to advance our knowledge of health and disease—but isn’t always focused on providing patients with the specific information they need to make medical decisions. PCORI was formed to change that. Like all research, PCORI-funded projects must be scientifically rigorous and conducted ethically. But PCORI’s patient-centered approach to resolving medical questions is unique, involving consumer input at every step:

  • formulating research questions
  • setting priorities
  • planning studies
  • collecting information
  • interpreting results
  • sharing findings

PCORI research focuses on answering four common patient questions:

  • Given my personal characteristics, conditions, and preferences, what should I expect will happen to me?
  • What are my options, and related potential benefits and harms?
  • What can I do to improve outcomes that are most important to me?
  • How can my health care providers help me make the best decisions about my health and healthcare?

How Can PCORI Research Help the HBOC Community?

Patient-Centered Outcomes Research (PCOR) is very important for the Hereditary Breast and Ovarian Cancer (HBOC) community. Individuals with BRCA mutations or other risk factors must make many important and difficult medical decisions. In the last two decades research has discovered important information about hereditary cancer risk and outcomes, but our message boards and forums are still filled with lingering questions for which we have no definitive answers, including:

  • What is the ideal age to remove my ovaries/tubes?
  • Is removing my uterus along with my ovaries and tubes beneficial, and if so, how?
  • What medical outcomes might I face after undergoing surgical menopause?
  • Will my health and quality of life be improved or harmed by taking hormone replacement after surgical menopause?
  • Is increased surveillance likely to find a cancer early enough to avoid chemotherapy?
  • Are certain treatments better for people with hereditary cancers? Is it in my best interest to avoid certain treatments?

Answers to questions like these can help people facing HBOC make informed decisions about their health care based on their personal health goals and priorities.

Government agencies such as the United States Preventive Services Task Force (USPSTF) have a strong influence on insurance coverage and patient access to preventive services. The USPSTF reviews traditional research evidence to set screening and prevention guidelines. It also considers Patient-Centered Outcomes Research information that includes people’s attitudes towards preventive medicine such as:

  • Does an increased chance of abnormal findings affect a person’s willingness to undergo more sensitive cancer screening tests such as MRI? Does the risk of increased biopsies outweigh the benefit of detecting cancer earlier and if so, for which patients?
  • Which prevention outcomes are most important to patients?
    • survival
    • avoiding chemotherapy or other debilitating treatment
    • quality of life
  • Are answers to these questions different for high-risk patients than average-risk patients?

Research on the HBOC community’s perspectives on medical services can guide agencies in setting policies that affect access to care.

How is FORCE Involved in Patient-Centered Outcomes Research?

Over the past 15 years, FORCE has organized and united the HBOC community to identify, highlight, and promote research on the health concerns and outcomes that matter to people affected by HBOC. As we have compiled the research that is known about these issues, we have also identified the limits of our knowledge. Through our forums, programs, and surveys we have collected public input on the concerns and information gaps that most impact access to care and medical decision-making. Through our collaborations and participation on task forces and guidelines panels we continue to advance research and promote policies that benefit our community.

Recently FORCE’s collaboration with researchers from the University of South Florida and the Michigan Department of Community Health received a funding award from PCORI that will enable a “patient-powered research network” called the American BRCA Outcomes and Utilization of Testing (ABOUT) Network. Our collaboration is one of 29 networks that were recently approved to participate in a new national resource through PCORI known as the National Patient-Centered Clinical Research Network (PCORnet). We were chosen primarily due to our commitment to gathering patient input and identifying important concerns, our work to unite the community, our dedication to sharing important research results back to the community, and our efforts to train and prepare community members who have no scientific background to provide input into research.

Over the next 18 months we will be engaging our members in the following ways:

  • recruiting members who are interested in completing advocacy training and participating in leadership roles to help us build the governance of the ABOUT Network.
  • soliciting community input to identify and prioritize important unanswered research questions
  • offering opportunities for people to enroll in the ABOUT Network to help accelerate Patient-Centered Outcomes Research
  • training people with no scientific background to participate in research advocacy through our FORCE Research Advocacy Training (FRAT) program. FRAT helps to prepare members of our community to become involved in all levels of research planning and implementation.

FORCE’s participation in the ABOUT Network will allow HBOC stakeholders a place at the table and an unprecedented voice in guiding PCOR research over the coming years. Stay tuned for more details soon.

Happy New Year, Happy Birthday, FORCE!

Just after midnight on New Year’s Day 1999, I formalized a plan that I had consideredfor months. That day FORCE was born. I could write volumes on the many ways FORCE has impacted every aspect of my life, but this blog is about FORCE’s achievements and how the organization has helped people and families affected by HBOC.

Force15anniversaryOur 15-year efforts to unite, support, educate and improve lives has produced greater awareness, more research and better resources for the HBOC community, and has established FORCE as the community’s trusted leader. Last year was an unprecedented year for FORCE efforts, successes, and identification of new challenges.

Advocacy

Awareness and Support

  • Thanks to the combined impacts of Angelina Jolie’s announcement, Hollywood’s Decoding Annie Parker, and the Supreme Court overturning gene patents, media attention of HBOC reached an all-time high. Now more than ever, people need FORCE as a trusted resource of credible information.
  • Regardless of geography, income or other factors, no one needs to face hereditary cancer alone. Our staff of dedicated employees works hard to keep the lights on, and continue to expand our programs to meet the needs of a growing community. More than 100 trained volunteers answer helpline calls and run meetings in 55 cities, providing support and connecting people to resources, expert care and others who live with HBOC.

Research

2014 promises to be another landmark year for FORCE and the community we serve. Decoding Annie Parker will be released in theaters nationally. We expect 800 attendees for our 8th annual Joining FORCEs Conference in Philadelphia, and we will launch a clinical trials finder tool. We will also redouble our efforts to promote and enroll people into HBOC-specific research of detection, prevention, treatment, and quality-of-life. FORCE and the University of South Florida will expand our American BRCA Outcomes and Utilization of Testing (ABOUT) Network through a funding award by the Patient-Centered Outcomes Research Institute (PCORI). We will be looking for survivors and previvors who wish to help us shape HBOC research goals, participate in training, and volunteer for leadership roles in developing a hereditary cancer research agenda and plan.

Stay tuned for more updates throughout 2014.

From our family to yours, happy New Year!

Preventive Guidelines Discriminate Against Cancer Survivors

FORCE has created a change.org petition to ask the United States Preventive Services Task Force to change their guidelines to include cancer survivors. You can read more about the issue and the petition below.

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The United States Preventive Services Task Force (US

The panel wields considerable power over consumer access to preventive health care services—primary care clinicians and health systems follow its guidelines. And importantly, the guidelines are incorporated into the Patient Protection and Affordable Care Act (PPACA), which states that health plans must provide benefits without imposing cost-sharing (i.e., without a deductible or co-pay) for services that have a rating from the task force of “A” or “B.”PSTF) is a government-supported independent panel of experts that reviews and develops recommendations on select preventive health services. In the panel’s own words: “The USPSTF is committed to improving the health of all Americans. To achieve this, the USPSTF assesses evidence on specific populations and makes specific evidence-based recommendations for specific populations.

The USPSTF has reviewed several, but not all preventive services available to keep us healthy, so some gaps are unavoidable. (Read a list of USPSTF-reviewed services here.)

The panel does have guidelines for risk assessment and BRCA testing, which are now being updated. Revisions have been improved based on feedback and suggestions from many groups and health care professionals; the proposed update supports genetic counseling and testing with a “Grade B” in women who have a family history consistent with a mutation, requiring insurance companies to cover these preventive services without a co-pay or deductible. But as we have previously reported, serious gaps remain, including omission of:

  • men
  • risk assessment and Lynch Syndrome testing
  • letter grade assignment for screening and prevention for high-risk women

We will continue to post about these gaps in policy that affect our community’s access to care. This blog post highlights one particular aspect of the USPSTF draft guidelines on risk assessment and BRCA testing: the discrimination against cancer survivors.

Regarding its draft guidelines, the USPSTF states: “These recommendations apply to women who have not received a diagnosis of breast or ovarian cancer but who have family members with breast or ovarian cancer whose BRCA status is unknown. Women presenting to their primary care providers who have a relative with a known potentially harmful mutation in the BRCA1 or BRCA2 genes should receive genetic counseling and consideration for testing.

FORCE response to the USPSTF draft guidelines

In October of this year FORCE sent a letter to the USPSTF which included four key points about this gap:

  • We pointed out that cancer survivors with a BRCA mutation are at high risk for an unrelated second primary cancer, and could benefit from preventive aspects of BRCA testing.
  • We requested that the task force review the strong research evidence supporting genetic risk assessment for preventive purposes in women who have been already been diagnosed with breast cancer and meet national guidelines.
  • We emphasized how omission of survivors from these guidelines will negatively impact their access to care and coverage for preventive services under the PPACA.
  • We requested that women with a cancer diagnosis be included in the definition of “population under consideration.”

USPSTF response to FORCE

The USPSTF responded to our letter with this statement, “Although the Task Force recognizes the importance of the further evaluation women who have the diagnosis of breast or ovarian cancer, that assessment is part of disease management and is beyond the scope of this recommendation. The Task Force recognizes that genetic counseling and testing may be an important part of disease management for women who have been diagnosed. However, the Task Force’s mission is to determine the evidence-base for preventive services in the general population who have no signs or symptoms of disease.

I recognize that the USPSTF is focused on prevention only, and that any service that may come under the category of treatment is beyond their scope. And it is true that under some circumstances—particularly in women newly diagnosed with breast cancer—BRCA testing can affect treatment decisions, including the decision to have lumpectomy or unilateral mastectomy vs. bilateral mastectomy. However, the USPSTF response is missing a critical point: BRCA testing has preventive value beyond “disease management” and can help survivors prevent a new, completely unrelated second diagnosis of breast cancer. Experts still recommend genetic risk assessment for women whose personal and/or family medical history indicates a possible mutation even after they have completed their treatment for cancer and have no evidence of disease. These women meet the task force’s criteria of having no signs or symptoms of disease.

The USPSTF guidelines discriminate against cancer survivors

The USPSTF’s insistence to exclude survivors from these guidelines, despite research evidence to show the preventive value in testing people after cancer, amounts to discrimination against cancer survivors. The panel implies that once a person is diagnosed with cancer, all further health efforts fall under the category of treatment of the disease. By dismissing the preventive value of BRCA testing in this population they also dismiss the value of preventive services in cancer survivors in general, many of whom will go on to live long healthy lives if they are given access to appropriate preventive services.

My personal history is a perfect illustration. When I was first diagnosed with breast cancer, my health care providers failed to recognize that I had several red flags for a mutation. It wasn’t until after my unilateral mastectomy—when I read an article about BRCA testing—that I recognized I fit the guidelines for BRCA testing. I learned after my treatment that I had a BRCA 2 mutation; I was fortunate because a prophylactic mastectomy of my so-called healthy breast found early-stage cancer. During my BSO, abnormal cells were found in my abdominal wash, indicating that dangerous changes that could develop into cancer if left unaddressed were already underway. These surgeries were preventive in every sense of the word. The fact that I had already been diagnosed with breast cancer did not take away from the preventive benefit of BRCA testing for me. Now 15 years out from my preventive surgeries, I remain healthy and cancer-free. I am confident that the preventive steps I took have kept me from developing a second primary cancer.

Thousands of women like me who have completed treatment for cancer meet expert guidelines for risk assessment and BRCA testing, and also fit the USPSTF’s criteria of having “no signs or symptoms of disease.” Research evidence shows that genetic risk assessment and preventive action can lower their risk for a new primary cancer, detect it early, and lower their mortality. In many cases these women are the key to identifying a family mutation. As U.S. citizens, they are entitled to similar preventive services as people in the general population. Continued exclusion of this population discriminates against breast and ovarian cancer survivors and jeopardizes not just them, but also their healthy relatives.

The guidelines run counter to the spirit of the PPACA

As of January 2014—due to provisions in the PPACA – U.S. citizens with a pre-existing condition can no longer be denied or dropped from their health insurance plans. The stated goals of the PPACA are: “The most prevalent goal, however, and the one concept that is nearly universally accepted is the desire to improve the quality of care across the United States (U.S.) for all citizens until it meets the highest of standards.” It is ironic that at a time when the Patient Protection and Affordable Care Act is being implemented to eliminate pre-existing condition exclusions by insurance companies, the USPSTF task force is in effect adding back pre-existing status, and therefore barriers to cancer survivors’ access to preventive care.

What you can do

After several letters to the USPSTF, we have decided to appeal to the task force once more, focusing on the issues with the most supportive research evidence. We ask that you read and sign on to our counter-response letter, which we plan to submit by December 12. (Read more about the issues here). We ask you to share this letter with any cancer survivors, previvors, health care providers, caregivers, and everyone you know and ask them to sign on to the letter as well. This issue and the USPSTF actions to assure access to preventive services for all citizens effects us all. We will request a written response from the USPSTF and will share it with our community. We will continue to post about the gaps in policy that affect our community’s access to care.

To sign on to the letter, send an email to suefriedman@facingourrisk.org and include your full name, city, and state.