Genetic Testing: Finding The Right Specialist Can Make A Difference

On a daily basis, we are hearing alarming stories about people having BRCA genetic testing under less-than-ideal situations. Increasingly, people are being offered inappropriate testing and are receiving their test results unaccompanied by proper information about their risk for cancer or their risk-management options. In general, these stories involve individuals who are tested at a physician’s office, when they should be referred to a board-certified genetic counselor or an equally qualified health care provider. These stories highlight the importance of meeting with a properly-trained genetics counselor prior to having genetic testing.

My concern is that non-qualified health care professionals ordering genetic tests will become the norm. Between consumers who are unaware of experts specifically trained in genetics and physicians unequipped with the knowledge about when to refer, people are being denied access to health care experts who are best able to help them make important health care decisions regarding cancer risk and prevention.

The National Comprehensive Cancer Network (NCCN) is a consortium of top cancer experts who develop consensus guidelines for cancer screening, prevention, and treatment. NCCN guidelines outline the criteria for determining if cancer in a family may be hereditary. For people who match the guidelines, the NCCN recommends referral to a genetics professional prior to genetic testing. Therefore genetic counseling is considered standard-of-care for those who have a family cancer pattern suggestive of hereditary cancer. BRCA testing without a full pre-testing counseling session (a typical session usually takes 60 minutes) that includes a three-generation pedigree (if available), a thorough discussion of the benefits and limitations of testing, and a list of risk management options, does not meet standard-of-care recommendations.

Like many other fields in medicine, genetics is rapidly evolving with new discoveries published daily. It is difficult for non-genetics experts to keep up-to-date on the latest information. And, although genetic testing may seem fairly straightforward, certain aspects of the process require specific training in genetics. Most doctor’s offices are not prepared to provide an hour-long appointment with an expert—a standard part of the counseling process.

Genetic counselors help individuals and families make informed decisions about genetic testing. These specially-trained experts provide education regarding genetics and heredity in a way that people can comprehend and use to make the best decisions about their risk. Counselors do not try to persuade people to have or avoid genetic testing; they discuss appropriate cancer screening, risk management, and follow-up care based on the most recent medical literature and individual risk. Because genetic counselors are also familiar with state and federal laws regarding information and discrimination, they can address common concerns about the privacy and confidentiality of personal genetic information.

The following discussions occur in a genetic counseling session prior to genetic testing:

• Reviewing family history of cancer, including information about family members who never developed cancer
• Assessing and explaining risk for hereditary cancers and/or the chance to detect a mutation through genetic testing
• Describing the benefits and limitations of genetic testing
• Describing available medical management options based on test results
• Discussing whether a person may benefit from genetic testing
• Determining which family member is the most appropriate to begin the genetic testing process
• Assisting with insurance submittals for genetic testing

The following discussions occur in a genetic counseling session when results are received:

• Interpreting genetic test results and explaining what they mean for individuals and their families
• Providing referrals to experts for follow-up screening and risk management
• Providing referrals to support resources and research opportunities (including research on genetic testing, screening, treatment, etc.)

Recently we heard from one young woman who received genetic testing in her doctor’s office. After waiting three months for her results, the woman finally called the office. The nurse told her, “Oh, your test was misfiled as normal by the doctor. The results are positive, and by the way, your risk for breast cancer is 87%.” The young woman was alone in her car at the time. This is not the ideal way to receive this information (nor is this the ideal information). Communicating genetic test results requires skill and knowledge. There is a huge difference between “lifetime risk” and a “likelihood of cancer at that moment.” A young woman in her 20s who has a BRCA mutation has less than a 5% chance that she has cancer at that moment. Certainly she will need to make risk-management decisions, but she should not be pressured into make urgent decisions, (especially given that her results have been available for two months or more). Communicating test results in such a hapless and insensitive manner when someone is unprepared to receive them robs people of credible and empowering information, resources, and a risk-management plan at a time when they most need to hear it.

Another recent case illustrates how problems can occur when inadequately-trained health care providers order testing. A different young woman was ordered a $3,000+ full-sequencing BRCA test by her doctor. However, because her father had a known mutation, the correct test for her would have been single site testing, at a cost of about $400! The woman’s mother said, “When my daughter received her positive results, the doctor didn’t seem to know if they were positive or negative. The doctor apologized for the wait, explaining that she was on the phone trying to get information about the results. I took one look at that analysis and knew the results immediately. I had seen the same positive results for my husband! My daughter needed testing only for BRCA1/2, but instead, they performed the more expensive comprehensive testing!”

Some critics assert that we do not have enough genetics experts in our country to provide services for those who need the information. This argument has been used to justify genetic testing in the primary-care setting. Yet, many of the horror stories that we are hearing of people who have been denied genetic counseling involve large cities where genetic counselors are readily available. And for those who can’t travel or prefer not to travel to see an expert, full genetic counseling with board-certified genetic counselors is available via phone through Informed Medical Decisions, a health care service that offers genetic counseling with board-certified experts.

It is not appropriate for physicians to order a test they don’t thoroughly understand, and then only refer patients if the results return with a mutation. A portion of people who receive genetic testing will have a result known as an “uninformative negative test.” These ambiguous results mean that the patient and/or her family may still be at high risk for cancer. In some cases the ambiguous test is a result of the incorrect test being ordered. If physicians only refer people who test positive for a gene mutation and only after the results are available, they deny the consumer the opportunity to understand what the test may mean prior to ordering the test. Additionally, a portion of people who actually are at high risk for cancer will be told that they are at normal risk because of a misinterpreted test result.

Currently no government agency regulates inappropriate genetic testing or testing without the benefit of genetic counseling. Just because doctors offer genetic testing does not mean they have the special training needed to provide genetic counseling, order the appropriate test and interpret the results correctly. Knowledge is our best protection. Anyone who is interested in learning if the cancer in their family is hereditary or anyone who is offered genetic testing from a physician has the right to insist on a referral to a genetics expert. Most insurance companies will cover the cost of genetic counseling. To find a genetics expert near you, visit the page on finding health care specialists on the FORCE website.

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.

Previvor: Past, Present, & Future

Use of the term “previvor” has become common, which, in my opinion is good for our community. Since popularization of the term increases the chance that its meaning and origin can get lost or forgotten, a post on the origins and future of the term seems timely.

I have seen some people react strongly (with intense like or dislike) to the term, which I can understand. By sharing the history and reason why the term was coined I hope to help people accept or at least understand the intent and meaning behind the creation of the term.

In 1998, after finishing my treatment for breast cancer and after learning that I had a BRCA 2 mutation, I sought out breast cancer support groups. Because of the hereditary component to my cancer, I felt that others in the group couldn’t relate to many of the issues I was facing. My needs were not entirely met by the standard cancer support group model. Along the way I met women who were high-risk because of a BRCA mutation or other risk factor but who did not have cancer. These women became my friends and inspiration; certainly they were facing difficult decisions and issues that most of their friends couldn’t understand or relate to. With a diagnosis of cancer I immediately joined an already well-established community (albeit one I didn’t want to belong to) and instant access to support and resources via great organizations such as Gilda’s Club, the Wellness Community, and local support groups. Sadly, I noticed that many of my new high-risk friends without cancer felt alone, and not comfortable with using resources and forums created specifically for people with a cancer diagnosis.

I founded FORCE in 1999 under the principle that nobody should face hereditary cancer alone. Our goal has always been to include all who have been affected by hereditary cancer: those with cancer and those without, those with a known mutation and those with cancer in the family even if no BRCA mutation has been found. FORCE was also established to provide a home and safe haven specifically for high-risk women who had very few other safe and supportive places to share their common experiences.

The term “cancer pre-vivor” arose in 2000 from a challenge on the FORCE message board by Jordan, a website regular, who posted, “I need a label!” At that time I knew that the medical community had a label: the term “unaffected carrier” is used to describe those who have a gene mutation but have not had cancer. The term applies from a medical perspective, but can be dismissive for people who face the fears, stress, and difficult choices that accompany an increased risk for cancer. As a result, FORCE developed and promoted the term “cancer previvor” for “survivor of a predisposition to cancer.” The term includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor who are living with the knowlege of being high-risk.

Over the years the term previvor has been incorporated into the FORCE lexicon. Due to the enthusiastic use by our community and the medical community’s lack of a better word, the term has slowly been accepted by the medical and research community. In 2007 a series of high-profile articles in the New York Times brought public attention to the term and the serious issues that cancer previvors face. In December 2007, Time Magazine chose “previvor” as #3 of the top buzzwords of 2007 giving millions of people exposure to the term.

What does the future hold for the term and the community? The explosion of genetics research has led to the discovery of genes that predispose people to many different diseases. One of the powerful promises of genetics research is the ability to better predict risk and develop effective strategies to prevent diseases like cancer before they develop; this is an area where we have great potential to make an impact on the wellbeing of this and future generations. With the discovery of more genes that predispose to an assortment of diseases; cancer, diabetes, Alzheimers, we can expect that more people will learn that they are at high-risk for something. And risk is a spectrum: not all risk is created equal. Someone with a 25% lifetime risk for breast cancer for example,(compared with the population risk of 12.5%) may have a different set of issues to face and choices to make than someone with an 85% lifetime risk for the disease. These emerging “previvors” will face new challenges and dilemmas that may be different from those faced by the BRCA community but which require a new set of devoted resources. Through recognition and awareness of the unique issues each high-risk group faces we can begin to address their information, resource, and research needs. Perhaps this will require the development of a government agency–maybe an “Office Of Previvorship” (OOPs for short?)–with committed resources and funding to study and try to meet the medical and emotional needs of those who have hereditary predisposition to diseases.

The development and success of the term previvor is just one example of FORCE’s continuing role in uniting and providing a strong voice for families touched by hereditary cancer. For more information on FORCE and our programs, visit our website at facingourrisk.org.

Previvor is chosen as #3 top buzzword of 2007

Why a FORCE blog?

Information about genetics is exploding in more ways than one.  Let me explain: almost daily we are bombarded with new articles about discoveries in the field of genetics.  Many of these discoveries are exciting and relevant for our community.  But other discoveries (although groundbreaking) may have little significance for us or others in our community.  Sometimes the media treats all new information equally.  It can be difficult to tease out what is of immediate importance and what is many years away from actual application that will improve our lives.  Our newsletter addresses some of these new topics but it’s hard to keep up with the pace of new information in a quarterly print newsletter.

Along with the explosion in information comes the inevitable explosion of opinions about some of the topics that involve genetics.  The media loves to polarize the issues, leading to public debates on message boards tied to newspaper articles, letters to editors, etc. where people who may or may not have an understanding of the issues present opinions that are sometimes dismissive, insulting, or miss the boat.  For example, recently the headlines touted the birth of a baby in the United Kingdom whose parents used Preimplantation Genetic Diagnosis (PGD) and In Vitro Fertilization (IVF) to select and implant an embryo that was free of the BRCA 1 mutation which the father carried.  The headlines which heralded “Designer Baby” and “Cancer-free Baby” simplify and controversialize this complicated topic. (For more information on PGD for BRCA, you can view our own FORCE newsletter article on the topic .

My plan is to use this blog to provide personal input, advisory board input, and personal impressions on late-breaking information; research and articles that inolve our community.  As much as possible I will try to take into account the diverse nature of our community. In addition I will try to add articles about projects and programs that FORCE is involved in. I welcome input, feedback, and suggestions by e-mail to: suefriedman@facingourrisk.org. Check back often for updates.