Dr. Alan Stolier is a surgeon at the Center for Restorative Breast Surgery in New Orleans. He has more than 35 years of experience in surgical oncology. He specializes in the surgical treatment of breast cancer and is a pioneer in the development of nipple-sparing mastectomy. Dr. Stolier also focuses on breast cancer genetics and the associated care of women who have a BRCA and other gene mutations.
Breasthealth.org talked with Dr. Stolier about current breast cancer screening recommendations and how women can better understand their own personal risk of breast cancer—and potentially manage that risk. Even though most women who get breast cancer do not have a family history, it is the risk factor with the most evidence behind it. So we also asked Dr. Stolier about how women can decide whether they might be at risk for hereditary breast cancer and what they can do about it.
GENETIC COUNSELING & THE TESTING PROCESS (Part 2 of a 3 Part Series)
1. Why might a person consider genetic counseling?
2. How can a person find a genetic counselor?
3. Gathering a family health history is a big part of genetic testing for breast cancer. Can you talk about what that process is like and some of the challenges a person might experience?
4. Does insurance cover genetic testing?
5. What’s it like to get a genetic test? Do you give a saliva sample, blood sample, or both?
6. How long does it take for genetic test results to arrive?
7. How are the results delivered?
Based on certain pieces of information, we can pretty quickly come to the conclusion that someone qualifies for genetic counseling and testing. We look at the family history and note whether one or more relatives has had breast or ovarian cancer, especially before age 50. Actually, ovarian cancer is sometimes a better predictor of a gene mutation than breast cancer. Seeing breast and ovarian cancer in the same family member is also quite important. Triple-negative breast cancer is important [the cancer tests negative for receptors to estrogen, progesterone and HER2]. However, many times women won’t know the biology of a relative’s breast cancer. But you can look at these things and decide whether a person might have inherited a mutation that increases risk.
Now, African-American women tend to develop triple-negative breast cancers at a much higher rate than Caucasian women, so for them it is not as much of a red flag that a gene mutation could be involved. It is more of a concern with Caucasian women. There was a study at M.D. Anderson which found that women with triple-negative breast cancer tested positive for a breast-cancer-related gene mutation 18 percent of the time, regardless of whether they had a family history of the disease.
She can ask her doctor for recommendations, or she can go online to the National Society of Genetic Counselors. If you go to their website, you actually can put in your location information and they will give you some options.
Unfortunately, not all communities have access to genetic counselors. However, most surgeons who are trained in surgical oncology and specialize in breast cancer are able to do their own genetic counseling and order testing. If your doctor is knowledgeable about hereditary breast cancer, he or she should be able to perform the test right in the office. I would recommend that patients try to get a feel for how much breast cancer their surgeon sees, and just make sure that he or she treats many cases and has a special interest in breast cancer and breast disease.
We all need to help women understand the importance of collecting an accurate family history. I find it can be quite difficult for me to get the information I need, mostly because of problems that can occur during the history-taking.
For instance, a woman may tell you her mother or aunt had bone cancer or lung cancer and not realize that it was actually breast cancer that moved into the lungs or the bones. We haven’t really done a good job of educating people about how cancer works. What we really want to know is where the cancer started and at what age it began.
People often don’t have any idea as to when their relatives’ disease started. They might have a general idea of when someone died, but we know that women with breast cancer can live for many, many years, so someone who died at 60 may have developed breast cancer at 40 or 45. I try to help women understand the importance of getting at least a ballpark age at which the cancer was diagnosed.
Here’s another thing I cannot stress enough: The history on the father’s side counts as much as the mother’s side. Half of all hereditary breast cancers come to a woman through her father. I tell my patients just to make a list for each side of the family and write down the names of those who had cancer, what type it was or was thought to be, and at what age it developed, even if they just know the decade – in her 40s, in her 60s, etc. From there we can build the family tree.
There are some cases where patients have trouble getting information because family members are not cooperative. Some relatives don’t want to talk about it. There are even instances when a relative gets tested for a breast-cancer-related mutation and does not want to give out the information. Ethically, her doctor can’t give it out either. It’s unfortunate, but it absolutely has happened.
In general, insurance coverage is there for most women—I would guess well over 90 percent. Occasionally, though, your assessment and the insurance company’s assessment do not match up. You give them a history you think is important, but it doesn’t fit the insurance company’s exact criteria. But in general that’s very unusual, so that’s the good news.
The bad news is that we are undergoing an enormous change in the way that we perform genetic testing. Up until the last couple of years, we essentially tested for mutations in the genes known as BRCA1 and BRCA2. But we’ve learned more about other genes that could be related to hereditary breast cancer. So now we’re often testing a whole panel of genes for mutations that can increase people’s risk not only for breast cancer, but also for other kids of cancers, such as colon cancer.
All of a sudden, we have a group of women with very strong family histories of cancer who tested negative for the BRCA gene mutations. We would love to have them tested again for the additional mutations. We’re finding that some insurance companies will cover this, but some are denying coverage. I don’t have a clear grasp yet on who’s allowing what as far as testing for a second time. I’m hoping it gets worked out between the genetic testing companies and the insurance companies in the near future.
Now, for women getting tested for the first time the insurance companies have been good about covering the panel test.
Many times it depends on the testing company. When we were testing just for the BRCA gene mutations, we did that for years with just saliva. A person would have to spit into a container until it reaches a certain level.
Now that we’re often testing a larger number of genes, we need a larger amount of DNA [genetic material], so usually we order a tube of blood. Still, saliva tests are out there for people who can’t have a blood draw or are highly resistant to it. If the saliva doesn’t provide enough DNA, then the company will get back to you and ask for a blood sample. But in either case, you take the sample and send it off to the testing company.
It can vary, but usually between two and four weeks. When we were just doing BRCA testing, we could have the results back in five to ten days, but as the tests got more complex and involved more genes, more time was required. I imagine that over the next couple of years, though, the turnaround times will get shorter, just as they did with BRCA.
The results used to come back on paper, but now we get a notification that a test result is available online. We have a password into the system and we can open and print a patient’s result from there, which really speeds up the process.
We always provide a copy of the test result to the patient. In some cases we will even scan it and email it to them. The test results are generally easy to read. If the result is positive, then that person needs to know exactly what the mutation is and where it is in the gene, so that other family members can be tested for the same mutation.
How we give the results to patients initially can vary. We don’t know exactly when we’re going to get the results in, so we can’t make an appointment up front. So, when we get the results, we call them and invite them to come in. Many people want the results right over the phone, and we generally will do that. People who test negative are happy and often just want a copy. For someone who is positive, we have them come in and discuss their results and the options they have going forward. My guess is that every physician handles this in a little bit different way, as do genetic counselors.
Continue the interview with Dr. Stolier: Part 3, Options to Women at High Risk.