Increasingly women are asking to be tested for their higher cancer risks, a new study shows. For a detailed discussion of genetic counseling issues, genetic counselor Forum Shah addressed many common questions: http://bcsurgerystories.com/wp-admin/post.php…
The nation’s largest group of women with hereditary breast and ovarian cancer mutations has released a statement opposing new mammography guidelines released by the American Cancer Society, saying it fears the new standards will do more harm than good.
“It is important to note that these new guidelines are intended for women at average risk of breast cancer,” says the statement from Facing Our Risk of Cancer Empowered (FORCE). “Unfortunately, the vast majority of young women diagnosed with breast cancer have no known family history, and many are unaware that they may carry a genetic mutation associated with increased risk of cancer. Others simply have sporadic cancer for unexplained reasons. As such, these guidelines may have a negative impact on the general population and high-risk breast cancer communities alike.
“Many women learn they are at high risk only after they are diagnosed with breast cancer that is most often first detected by breast self-exam or mammogram.,” said the statement. “While saving lives is of primary concern, we should not underestimate the value of early detection, which may help women avoid poorer prognoses and more invasive treatments such as chemotherapy or mastectomy.” The full statement is at: http://www.facingourrisk.org/our-role-and-impact/advocacy/current-actions/documents/ACS-guidelines-statement-2015.pdf
Forum Shah is a licensed genetic counselor at St. Joseph Hospital, a large Orange, CA hospital within the St. Joseph Health system. In an interview, she discussed the increased interest in genetic testing; common issues discussed in counseling; and the role of a genetics counselor.
What impact did Angelina Jolie’s 2013 statement have on interest in genetic testing?
I graduated the spring Angelina Jolie made her statement. More than anything, her statement brought awareness. BRCA testing has been clinically available for 20 years. Angelina Jolie made it more current news. So all these people who may have had genetic testing in the back of their minds starting thinking, ‘maybe; I should be doing this right now.’ Increased awareness has led to a significant growth in the number of patients we are seeing and in the number of counselors needed. A lot of centers thought one genetic counselor was enough, or even a part-time genetics counselor. Now they are hiring three to four at some centers because we’re seeing the increase in awareness.
Who is coming in to be tested?
The youngest patient that I’ve seen was 16 years old; the oldest was 85. The patient demographic depends on each individual’s story and their reasons for coming in for a genetic consultation. You have women recently diagnosed with breast cancer, from 30-70. You have women who were diagnosed with breast cancer years ago, when they were in their 30s and now they are in their ‘60s and ‘70s. Their daughter brought up this issue with them and they are worried. We always think the most informative person to test is the person affected at a young age with cancer.
How early can testing begin?
Usually genetic testing is available at 18 years of age. There are some genetic syndromes we will test for earlier at younger ages because the screening for those syndromes is recommended to start at an earlier age.
What is the cost of testing and has it become more affordable?
Insurance is more likely to cover genetic testing now compared to several years ago. We have insurance criteria to follow. The criteria are considered to be in most cases what we call fair and valid. They are based on research that shows that women with breast cancer 45 years of age and younger are at a higher risk to have a hereditary predisposition. Research has also shown that women 60 years of age and younger with triple-negative breast cancer have a higher risk to carry a hereditary predisposition. Insurance plans have different criteria. Depending on the plan’s criteria, a patient may have an obstacle. Medicare, for example, does not cover testing in unaffected individuals. When a younger woman tests positive for a genetic mutation we want to know if she inherited her mutation from her mother or her father so the family members can be informed. If her parents have Medicare and are unaffected, it becomes harder to test them as they would have to pay for the test themselves.
So most people have insurance to cover this?
Most people do. If they don’t, we have great resources. Each laboratory has its own financial resources that they perhaps can offer. . Myriad used to be the only company to test for BRCA1 and 2. Since its patent was dissolved by a Supreme Court ruling, the price of genetic testing has gone down significantly. . It was about $4,400.
Depending on which laboratory you go to, and which panel of tests, it can be $2,000 or less.
And subsequent family members are charged less?
Yes, once someone has tested positive for a mutation, then we test others in the family for that mutation. We call this single-site testing, which is less expensive, about $300-400.
If someone wants to pay out-of-pocket because of insurance or other reasons, many labs have discounts on testing for less.
Do some companies charge less?
Beyond BRCA1 and 2 testing, we can order any panel for $1,500 or less in out-of-pocket costs.
What does a variant of uncertain significance (VUS) result mean? Besides a positive or negative result, the laboratory can also detect what is known as a variant of uncertain significance. This happens maybe 10% of the time in panel testing. Historically, about 90% of VUS results in BRCA carriers were reclassified as benign.
Are there other genes associated with breast cancer?
Although the BRCA1 and 2 genes are the most common causes of hereditary breast cancer, they are not the only known causes of hereditary breast cancer. Other high-risk genetic syndromes are rare but they exist. Many genes, like PALB2 are associated with a moderately higher risk of breast cancer. We discuss panel testing with all women during a genetic consultation. We emphasize panel testing as a personal choice if patients want to do testing for moderate-risk genes. Standard management guidelines for these moderate-risk genes have not been developed yet. We encourage everyone, including our BRCA patients; to be part of a study because that’s the only way we are going to gather more information. Some of these studies are looking at particular mutations. Right now, we give ranges. Certain mutations may have more or less of a penetrance and therefore the increased risk to cancer varies. That’s why we encourage women to go into research, whenever they are ready. That’s how we are able to get these risks to begin with.
What is BART? (BRACAnalysis® Rearrangement Test)
BART is a test that adds to the extra accuracy of BRCA1 and 2 sequencing tests, making the combination of the two tests 97 percent accurate. A sequencing test reads the letters of a person’s genetic code to see if there are any typos or errors; was anything misspelled? What BART testing does is to indicate if there are portions of the gene missing or extra. This is called duplication/deletion testing because it looks for missing or duplicated areas within a gene. We know a harmful error can cause the gene to no longer function and that’s what we call a positive result, the patient has inherited a hereditary predisposition to cancer.
Do many people get the BART test?
Now, BART is a standard of care when testing for the BRCA1 and BRCA2 genes is ordered. Anyone who has had a genetic counseling consultation since 2013 to do BRCA testing will have sequencing and deletion/duplication testing. Between 2006 and 2012, some patients were tested; some were not. So we are always encouraging patients to contact us if it’s been 2-3 years since they were last seen to determine if they qualify for additional testing.
What does BART cost?
It’s about $700.
If someone in your family has had BART testing, do you still need it?
It would depend. It’s a tricky question. If someone in your family already had BART testing and they were affected with a young cancer, and you were unaffected, then no, you don’t need it. If you are affected with cancer and someone else in the family has had BART testing, and you are the youngest person affected with cancer in the family, then yes, we’d want you to do the test.
We don’t test everyone we see. We are genetic counselors. We educate people about genetics. We do a risk assessment. We look at their family history. We determine if testing is necessary. We interpret test results for them. There are women who walk out of my office who don’t get testing done. We talk and they decide, ‘I don’t need this testing. I can save the money.’ But they can walk out reassured. They can say, ‘I’m not ignoring this family history. I know it exists. It’s definitely concerning. Here’s what we’re going to do about it.’ We have risk models to help calculate what the chance of a person developing cancer is given the personal and family history.
Is depression common when learning you are BRCA positive, even if you are educated and motivated to learn your results?
It depends. The beneficial aspect about counseling prior to testing is that you can talk about it with your patients and prepare them before they choose to pursue testing. Have you thought about what it is like to be positive? Have you thought about what it is like to be negative? You allow the patients to start thinking about positive test results. I have a lot of people who come in and say, ‘I already know I am positive. I am going to think that so that if I test negative, I will be getting good news and if I’m positive, I’m preparing for that.’ It works both ways. I can tell someone they are negative and they start crying. “I wasn’t expecting it.” I think my negative patients cry more often than my positive patients because they are so stunned and surprised. It’s so unexpected for them.
Do you give results over the phone?
It depends on the patient and how comfortable the patients feel about receiving the news over the phone. If the results are positive, we strongly advise the patients return for a follow-up appointment within a few days of receiving the news. This gives them a day or two to adjust to the results. It’s like hearing you have cancer. You hear the word and nothing else. It’s the same sometimes when you hear you are positive. You don’t necessarily hear what goes with it. So sometimes it’s nice to give the news over the phone and they have a day or two to adjust. When they come in, they are armed with questions and knowledge.
If a woman has breast cancer, she may use genetic results to decide whether to have a contralateral prophylactic mastectomy. How do you counsel women about that, given the fact that the surgery doesn’t help a woman live longer?
It depends on how a woman feels when she comes in. I tell her, you are positive for a BRCA mutation and your risk of developing a second primary breast cancer is 40-60%. I say it’s up to you whether you want to keep the second breast. I ask, ‘If you are positive for a BRCA mutation, do you go in for your mammograms and clinical breast exams?’
If the person is negative, we say it’s one half of a percent every year until age 80. At that point I ask, ‘Are you someone who is vigilant about screening? Your physician is going to watch you like a hawk for the first 5-to-10 years anyway. After that, are you going to continue to be vigilant?’
You have other patients who say, ‘I don’t want to do all this screening. I’m going to stress every single day of my life over the fact that I still have my other breast.’ Sometimes, you have to weigh the emotional distress with the surgery complications and recovery. If emotionally, every day of their life they are thinking about whether they are going to develop breast cancer in the other breast, I don’t know how beneficial it is to keep the other breast.
I always tell women that I cannot tell them about recurrence risks from their first cancer. That’s something to discuss with their oncologist. I am talking to them about a completely new risk. I always emphasize with anyone who walks into this door that even if you remove both of your breasts, your risk of developing breast cancer is not going to be zero. Nothing takes it down to zero percent. Breast tissue could still exist in the chest wall.
Of women who are positive, do more choose surveillance than treatment?
It’s a very unique personal choice. It’s hard to say. It may be age dependent and may depend on whether they have cancer or not. When someone is unaffected and young, they tend to make statements like, ‘I want to breastfeed. I want to keep my breasts for a while. I’m going to do screening.’ What I tell all my unaffected patients is that studies show if a woman vigilantly does her screening –mammograms and MRIs every year; clinical breast exams every six months versus a woman who does a bilateral mastectomy, what we found is their survival is the same.
I say, ‘this is information for when or if you are ready.’ At the end of the session, I always ask if a patient feels comfortable doing testing as it may change their life. I’ve had some who have walked out saying, ‘thank you for all the knowledge. I’m not ready right now. I don’t think I want this test right now but I will do my screening.’ That’s all I want. I want them to do their screening.
How much does a BRCA1 or 2 mutation raise a person’s risk of breast and ovarian cancer?
It raises the risk of breast cancer by up to 85 percent and of ovarian by up to 45 percent. Ovarian cancer risk depends on which gene mutation you are carrying. BRCA1 raises ovarian cancer risk by up to 45 percent; a BRCA2 mutation, raises the risk to up to 20 percent. For breast cancer, we don’t differentiate between the two. We say the risk of developing a primary breast cancer is between 56 to 85 percent. For a second primary breast cancer, it’s 40-60 percent
If a woman is BRCA1 or 2 positive, when do you recommend she remove her ovaries? And when should screening begin when someone else in your family has cancer at a young age?
We generally recommend you remove your ovaries by age 40. If you have had your children, you can remove them earlier if you want. After you hit 40 years of age, your risk starts getting higher.
We suggest screening should begin 10 years before the youngest cancer in the family. For example, if someone had breast cancer at 35 years of age, we recommend their family member starts breast screening at 25 years of age. If someone has ovarian cancer at 35 years of age, we will be a little more concerned as currently, there is no data to support ovarian cancer screening.
How do genetic counselors assist other family members about test results?
Once someone is positive, I focus on what these results mean for my patient. Often times, we use charts, graphs, or pictures to aid in the explanations. Such as, ‘here is the risk to the general population. Here is the risk group in which you are falling. You are falling into this high-risk group.’ We talk to our patients about what the numbers mean.
We give them a chart and we give them a list of the National Comprehensive Cancer Network guidelines, which goes over how we want to screen them. Some of it is split by age, some by gender. Then we go on to the family. Even if you come in for yourself, at the end of the day testing has implications for other family members. We always take a family history when a patient comes in. It includes parents, siblings, aunts, uncles, grandparents, cousins. We have letters we give people they can take to family members to discuss the tests. Anyone can come in and talk to us.
For details about National Comprehensive Cancer Network guidelines: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp
Younger breast cancer survivors with a family history of the disease are no more likely to have it return, a large study finds in the UK. http://www.medicalnewstoday.com/articles/294103.php
What’s the origin of the word previvor?
Florida veterinarian Sue Friedman coined the term after realizing that women with a hereditary risk of breast and ovarian cancer needed a word to describe them. She had started a non-profit, Facing Our Risk of Cancer Empowered (FORCE) on New Year’s Eve, 1998, only to find women with gene mutations felt excluded in breast cancer circles. She is both a breast cancer survivor and a BRCA2 gene mutation carrier.
“The medical community was using the term, unaffected carrier,” she recalled in an interview. “It meant you carried a gene mutation but you were unaffected by the disease.’’
Unaffected hardly seemed to be the case, she said.
“As I started meeting more women with the genetic mutation and I saw how they approached the idea of support, kind of apologetically, I thought, we need to unite this community. One of our board members said on our message board, I need a label. I lost my mom to cancer. I lost my breasts to cancer. I lost my fertility to cancer. But I don’t have cancer. What am I? So we actually put out a request through our community for a call for terms. There were some light-hearted ones. At the end of the day, I came up with the term, a previvor with a predisposition to cancer. Everyone didn’t love it. There was some high-profile criticism of the term. It was a way to provide a label to unite a community of stakeholders who really were not in a place at the table.”
Not long afterwards, Friedman was delighted to read that Time magazine chose the word as one of the 10 best new words of the year.
FORCE will hold its annual conference June 18-20 in Philadelphia. For conference details and other resources, go to: www.facingourrisk.org. Friedman and other previvors will tell more of their stories in our upcoming book, “Breast Cancer Surgery & Reconstruction: What’s Right for You. “
Experts support Angelina Jolie’s recent surgery to have her ovaries and fallopian tubes removed. Ovarian cancer often is a bigger threat than breast cancer in these high-risk women with BRCA mutations, they say. Here’s a follow-up in the New York Times about Jolie’s latest essay describing issues facing women with a high risk of ovarian cancer. http://www.nytimes.com/2015/03/25/science/experts-back-angelina-jolie-pitt-in-choices-for-cancer-prevention.html
At 39, Angelina Jolie Pitt underwent surgery to remove her ovaries and fallopian tubes to prevent ovarian cancer. We will explore these and other issues facing previvors — women at high risk of breast and ovarian cancer — in our upcoming book.