For each of the women in this blog series on the genetics of breast cancer – Charlotte*, Kate, and Rayna* – a genetic counselor was so important to determining whether they should go through genetic testing and how to lessen their risk of future cancers.
To help us understand Charlotte’s, Kate’s, and Rayna’s experiences a bit better, Anna Leininger, (MS, LCGC) a licensed genetic counselor, shared her expertise about how genetics can influence breast cancer risk, the role of a genetic counselor, and how to determine if, when, and how to find a genetic counselor.
The Basics: How genes are passed down in a family and how they can increase breast cancer risk
“You receive genes from both sides of your family and all of these genes come in pairs – one from mom, one from dad. Usually, we inherit two genes that work. When we look at the genes for breast cancer, their job in the body is to help protect the cell from the kind of damage that causes cancer. Which means that all of our cells have 2 gene copies that protect each cell. This is important, because even if we do everything right, as the decades go by, our bodies accumulate genetic damage. It happens to everyone, in every cell of the body.”
“There’s billions of base pairs in the human genome in every cell in our bodies. Once the starter kit – the egg and sperm – come together and create that first single cell, the human genome will need to be copied several trillion times to make the several trillion cells in a human body, and then maintain it for 90 or so years.” Anna laughs at this point and adds incredulously, “You couldn’t copy that even one time without making a bunch of mistakes!”
Genetic errors are entirely normal, Anna assures us. “By starting out with a pair of genes that both work, when something happens to one of them, there is a back-up copy – one gene is still showing up to work, the cell is protected, and all is well.”
When someone inherits a harmful variation in one of those genes, right from the moment that egg and sperm become a single cell, “all the cells in the body have a single copy of that gene, which is fine – that’s all you need. But there is no back-up copy. That is why inheriting a harmful variation in one of these cancer-related genes doesn’t mean that cancer is going to happen, it just means the odds are higher than someone who has a back-up copy.”
Common Ground: Genetic counselors, counseling, and testing defined.
Before continuing, Anna defines a few terms:
“A genetic counselor is almost like a content expert and a little bit like a translator. They are also tuned in to the psychological ramifications that can happen when a serious disease runs in the family. Most genetic counselors are masters level trained in either medical genetics, human genetics, or genetic counseling, and then there is a board certification process.”
“Genetic counseling is the process of evaluating the family history and determining what genetic testing may be appropriate or useful.”
“Genetic testing is when you send a biological specimen to a specialized lab to actually look at the genetic code.”
“Part of the purpose of genetic counseling is to determine if genetic testing makes sense in an individual situation. A lot of people think, ‘Why can’t I just get the blood test?’ And it’s like, ‘Well, which one would you like?’ or ‘How come I have to fill out this family history survey?’ And I tell them, ‘Well, we really want to make sure we are testing for something that is appropriate.’.”
Anna strongly recommends meeting with a genetic counselor prior to any genetic testing. They have “the skill set to make sure that all of the right tests are being ordered, that we are using a legitimate genetic testing lab, and we can help figure out ahead of time if this meets insurance criteria and if not, what is the best strategy so that people don’t get unexpected bills.”
Unfortunately, there are labs out there that are not qualified to do the type of genetic testing that produces high-quality, reliable results. There are also genetic tests that are not specific enough for all of the genetic variations that cause breast cancer. Anna warns, “Be cautious with internet testing – sadly, there is fraud out there.”
The Experience: What to expect for genetic counseling
When a client is referred to Anna or chooses to make an appointment with a genetic counselor, the experience is typically a series of one or two visits. Prior to meeting, “I ask people to complete: a family history survey (because that’s the backbone of all genetics), a personal health history, and a list of what cancer screenings they are already doing.”
With this information provided ahead of time, “When I meet with someone, we can focus on the assessment. Based on family history, what does that tell us about cancer risk? Is the screening that is already being done enough or is there anything else a person can be doing? Is this a situation where genetic testing might be useful?”
Like Charlotte and Kate, who sought out a genetic counselor after receiving a breast cancer diagnosis, finding out if one carries a genetic mutation that makes breast cancer more likely “can impact treatment and/or surgery decisions, it can alert us to other cancers we ought to be watching out for, and it can be useful for other family members.”
For women like Rayna, who sought a genetic counselor because her sister had a breast cancer diagnosis, “they are looking for clarification on how high their risk is for cancer, what the screening recommendations for someone at their level of risk are, and if there are any genetic tests that might be useful in helping clarify these.”
If there is a positive test result, a second visit is scheduled. “Now we have a specific gene to talk about instead of a broad range of cancer-related genes. I talk about the specific risks that go along with that gene, what the NCCN guidelines say to do about it, who to share the information with, and how do to communicate this with family members.”
The NCCN guidelines that Anna and her genetic counselor colleagues follow are the National Comprehensive Cancer Network (NCCN) screening guidelines for anyone who has a positive genetic result or a strong family history of cancer. They go beyond those suggested for the average person who has the average risk for cancer. “The NCCN guidelines let us know, if you have a genetic mutation: What do we know about that mutation? What age should I start screening? What tests should I use? What else and what other cancer should we look for? Sometimes, there aren’t guidelines for very rare things, and in that case, genetic counselors look at the published research or call the NIH/NCI (National Institute for Health/National Cancer Institute) or national/internationally recognized programs and academic centers to ask experts what they are doing.”
Reducing Breast Cancer Risk: Prevention and detection
To reduce one’s risk for cancer, there are 2 options: prevention or detection. Prevent cancer from happening at all, or catch it when it is easy to cure. “For detection, you start screenings sooner, go more often, and use better diagnostic tests (e.g. an MRI and a mammogram every 6 months), with the goal that if a cancer happens, we catch is when it is easy to cure.”
“The other side is prevention. What can we do to prevent cancer? This might include taking medication (e.g. tamoxifen), preventative or prophylactic surgery might make sense for some people, and removing ovaries before menopause reduces ovarian and breast cancer risk.”
Who to Trust: Finding quality care
“Anybody can have genetic testing,” Anna admits. You do not need a genetic counselor for this. However, “As a genetic counselor, my goal is that clients have enough information to make an informed choice about genetic testing and that they go through a reputable lab to do so.”
“I also check if genetic testing meets insurance criteria. If it does not meet the criteria for being covered by your insurance provider, then the conversation is, ‘You can get genetic testing done and here’s how likely it is we’d find something useful and here’s how much it will cost.’.”
You can find a qualified genetic counselor at the website for the National Society of Genetic Counselors (www.nsgc.org). There, a “Find a Genetic Counselor” button allows you to choose in-person or remote/telephone genetic services. “This would take you to legitimate genetic counselors who are qualified.”
A Wrong Class, A Right Career
A tremendous thank you to Anna Leininger for sharing her expertise with Firefly. At the end of our interview, I asked Anna how she became interested in genetics and genetic counseling. I had to include the start of her story, as it made me laugh.
“I am so lucky I went to the wrong class . . . I was supposed to be in the 3rd quarter of calculus, and I had not done well the second quarter. And I’m like, ‘I gotta do this, I can do this.’ I found the room – a big auditorium – and I was late, so I walked down to the front and crawled over about a dozen people. A minute or so later, I realized this wasn’t calculus. I was too embarrassed to get up and leave, especially after coming in late and crawling over all those people. So I stayed and it was an upper division genetics class and I loved it!”
*Names have been changed to protect privacy.
Anna Leininger is certified by the American Board of Genetic Counseling and holds a masters of science degree in medical genetics from the University of Wisconsin, Madison. “As a certified genetic counselor since 1996, I am passionate about using genetic information and technology to eliminate the needless devastation of cancer in families with high-genetic risk. By making genetic information understandable and genetic technology accessible, we empower families and their medical providers to make fully informed healthcare decisions to reduce cancer incidence and mortality.”
Written by Amy Tix, Firefly Staffer, Breast Cancer Survivor, and BRCA2+ mutation carrier. My genetic status change my life and impacted my larger family – I am so thankful and grateful for the genetic counselor that helped me, my family, and my broader network of relatives to work through all of the information, guidelines, and life changes that needed to be made.