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

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

Below is a summary of the comments I presented.

 

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

 

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

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

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

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

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

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

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

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

Thank you for your time and attention.”                                                                                                

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

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

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

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

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

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

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

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

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

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

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

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

Try Walking in Our Shoes

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

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

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

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

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

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

Try walking in our shoes.

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

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

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

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

 

Helping Hereditary Cancer Research: Participating in Research Studies

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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