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WNY genetic counselor helps families navigate difficult diagnoses

Laura Fisher may only be in the fourth year of her genetics counseling career, but she already has had to break some devastating news to some of those she sees professionally.

Tests she can order hold the prospect that someone has a hereditary predisposition to a variety of serious diseases – epilepsy, intellectual disabilities, breast cancer – and that a gene mutation in their DNA might be, or already has been, passed on to one or more of their children.

“Genetics is a family affair,” Fisher said. “We’re constantly thinking about more than just the person in front of us.”

Fisher, 27, holds a bachelor’s degree in biology – with minors in psychology and chemistry – from SUNY Geneseo State and a master’s degree in genetic counseling from Boston University. She worked for three years at Women & Children’s Hospital of Buffalo before taking a job in August with Windsong Health Medical Alliance. She is among a half-dozen genetic counselors in the region – three others are at Roswell Park Cancer Institute, two more at Children’s – who not only have a responsibility to deliver potentially troubling news, but also the ability to raise awareness that can empower a family to thoughtfully address, delay, and possibly prevent a variety of diseases. They also can help patients determine if testing should be an option at all.

“With genetic testing for inherited cancer predisposition becoming more widely available and increasingly complex,” she said, “It is my goal to provide patients with the counseling and education needed to help them make informed decisions.” You can reach her at 626-6300.

RELATED STORY: You have breast cancer. Now what?

Q. Why the interest in genetic counseling?

I toyed with a lot of ideas in health care. My mom, Janet, is a science teacher at North Park Middle School in Lockport, so that stemmed my interest, but I quickly realized that she did the same thing every year. I thought I might get a little bored, so I started looking around at other careers. This was a great fit because it’s science, it’s people. I spent time when was an undergrad doing lab research and I was a little alone in a lab, all by myself, and I didn’t like that. The other piece that played into it is that my brother, Eric, 25, has a genetic disorder called Fragile X Syndrome. It’s the most common inherited cause of intellectual disabilities. His abilities are like people with Down syndrome. It makes it really personal for me. Even though I’m now in a cancer role, I still have a sense of what it’s like having something genetic running through your family.

Q. Did your parents have any idea before your brother was born that the family had a predisposition to Fragile X Syndrome?

They didn’t. A lot of my family are “healthy carriers” for the condition. They have a genetic difference but they don’t have the condition. The inheritance of Fragile X is really complicated, much more complicated than what I would explain for cancer. We didn’t know it was in our family because no one had an affected child yet. My mom was the first. It came as a surprise.

Q. Knowing what you know about genetics, is there potential for something like that to happen in the rest of the family. Should others get tested?

I’ve been tested and I’m not a carrier, so I don’t have a risk to have children with Fragile X. Other more extended members of our family do have some risks. Everybody hears about screening with cystic fibrosis when you’re pregnant. Fragile X screening should be considered, too.

Q. What were some of the kinds of conversations were you having at Children’s?

A lot of people would come to us looking for an answer, a name to a condition. Some had been to a neurologist because their child had been diagnosed with epilepsy. They wanted to know why their child had been diagnosed and if there was anything we could do to help. Sometimes, we could give them an answer that would change the medications they took or how they were managed. Then we would tell them the risks of having another child with epilepsy. I would see young adults with a parent who had Huntington’s disease, and they wanted to know if they were at risk, as well. There are lots of different conversations but the setup is always the same. I’m always taking a medical history, a family history, talking about genetics and genetic testing – talking about the benefits and limitations, and how the patient feels about all of that and how they want to proceed.

Q. What is training like for genetic counseling?

A combination of getting a science background – getting that medical genetic information – but also taking some counseling courses to learn about how to communicate this information not only in a way patients can understand but in a compassionate way.

This is permanent information. Once you know it, you can’t go back. I say that to a lot of people because I want them to take it seriously. I use the analogy that if you break your arm, some day it will be healed, but this is something that doesn’t go away.

Q. The ramifications can be important, right? Like telling a parent they carry a gene that may predispose another child to a condition has to be hard.

It is. Some parents already have other children, so if it’s a health condition, they may wonder if those children could be affected and haven’t shown symptoms yet. There are times when I would diagnose a man with an X-linked condition – so the mutation is on the X chromosome. Men always pass on their X chromosomes to their daughters and their Y chromosome to their sons. So by diagnosing him, I was literally diagnosing his daughters at the same time.

Q. Dr. Thomas Summers, president of Windsong Radiology Group, says specialists like you will be able to help patients entering the growing field of personalized medicine. What is personalized medicine and how is it changing health care?

Personalized medicine is the idea of giving someone a targeted treatment, looking at what their genetic difference is and finding out if we have something specific to help them based on that difference. In my role, we’re getting there (but there’s a lot more work to do). Health care is changing a lot right now.

Q. Why do people come to you?

Because of a personal or family history of cancer, although I had a patient recently who was adopted and wanted to know more about her genetic information. I’ll see anyone. People want to know about their risk for breast cancer because there are things we can do to catch cancer earlier or prevent it altogether.

Q. Do you usually talk to someone who already has breast cancer or is it more often a family member?

What I’m doing a lot right now – because it was the most immediate need – is seeing patients who are seeing our breast surgeons. Patients will come to Windsong for their mammogram. If they have an abnormality, they have a biopsy. If the biopsy proves it’s cancer, they see our breast surgeon and our breast surgeon might look at their personal history or family history and tell that patient they might meet criteria for genetic testing. I talk to the patient and if we order testing, if they have a gene mutation, they might choose a more aggressive surgery. A woman may initially say, “My cancer is treatable by a lumpectomy but now I see I’m at a very high risk for a second breast cancer. Why don’t I have a bilateral mastectomy instead?” It’s much better to see these patients who are newly diagnosed than after they have surgery.

Q. How challenging is it to talk to a woman during this process?

It can be really difficult because they’ve been dealing with so much and I’m adding one more thing to their plate. Ultimately, in the end, it’s really helpful for patients but in the meantime, it’s very stressful. They may have changed their life around a surgery date and now they may have to have a new surgery date and a different type of surgery.

Kelli Cravey was a teen when her mother succumbed after a battle with breast cancer. She got proactive when she learned a gene mutation might hand her and her children a similar fate. (Derek Gee/Buffalo News file photo)

Kelli Cravey was 15 when her mother succumbed after a battle with breast cancer. She got proactive when she learned a gene mutation might hand her and her children a similar fate. (Derek Gee/Buffalo News file photo)

RELATED STORY: A courageous decision after a positive BRCA test

Q. Is the risk much greater?

It is. An average woman has about a 12 percent lifetime risk of breast cancer but the breast cancer risk can be as high as 87 percent if someone has a mutation in one of the high-risk genes. There’s also some moderate-risk genes that are more newly described.

There are different genes and based on what gene that mutation is in, that poses a different risk. ... In general, about 5 to 10 percent of all cancer has some sort of inherited predisposition. Some people look at that number and say, “Oh my gosh, it’s so high.” Other people say, “then statistically, I probably won’t have this gene mutation.” Probably not; 90 to 95 percent of cancer, if you flip that around, is not caused by an inherited gene mutation.

Q. So lifestyle can come into play?

Absolutely. Being overweight is a risk. When you had your first menstrual period. How old you were when you started menopause. How old you were when you had your first child. All these things figure in. There’s so many things we haven’t discovered yet. That’s why annual mammograms are so important so we can catch cancer early.

Q. Who should get genetic testing and what role does the genetic counselor play?

A person should get genetic testing if they meet criteria. Those are the ones most likely to have a genetic mutation. But I think genetic counseling is appropriate for anyone who’s interested in learning more about cancer risks, particularly if they have a personal or family risk of cancer, because I’m here to educate. I’m not here to push genetic testing on anyone. I only want testing if they think the information would be helpful to them or their family.

My role as a genetic counselor is to make sure that patients know what they’re getting themselves into: What information can I give you? What information can’t I give you? What will we do with that information? Some genes that are high risk have great guidelines that I can hand to a patient after a session and say, “Here you go. Talk to your doctor. Here’s how the national criteria thinks you should be managed.” With some of the lower-risk genes, we might not have gotten guidelines yet. So the role of a genetic counselor is to make sure that a person selects the right genetic test for them. Some patients only want to know about the high-risk genes that put them at a very high increased risk of cancer because they feel those are the genes they would do something about. Some people want to know about everything. They say, “Even though we don’t know how my health should be managed based on a positive result in a low-risk gene, I’m still interested in that information.” Part of that comes with people being curious and wanting answers: “Why did I develop breast cancer at such a young age?” Testing is helpful with that.

Q. Are you only going to deal with folks who have breast cancer in their family or have been diagnosed?

The position is evolving. Windsong saw a need for a genetic counselor. It was a great vision of theirs to know some of their patients might need some extra care. There’s no reason why if someone has a strong history of another cancer they can’t make an appointment with me. I’d be happy to see them.

Q. How many genes are you dealing with just in the breast cancer realm that have a potential impact of raising risk?

About 17 right now. That’s why we don’t want women thinking these genes are all the same. There’s six genes where women should at least consider a bilateral mastectomy. The other 11 don’t have that same implication, at least right now based on the studies that we’ve done. I always encourage patients to keep in touch with us because there will always be changes in testing and technology when it comes to these genes.

Q. Are there other options for these six gene mutations than a double mastectomy?

There are. If a woman doesn’t want to pursue that option, she can pursue more intense screenings. We would recommend a mammogram one time per year and a breast MRI once per year, and we would alternate them so a woman is getting screened every six months. A woman could take the drug tamoxifen as another preventative measure. Those are the three big options. ... A woman who’s 25 who hasn’t had any children yet may want to consider surgery when she’s 35 and she’s had her children and had the ability to breast feed.

Q. How are these gene mutations passed on?

The power of genetic testing is that if a parent has cancer and is tested and has a gene mutation, a son or daughter is at a 50 percent risk of also having inherited the mutation. We can test a child and get a definitive answer. So genetic testing for family members who have had cancer is incredibly important. They’re the people that guide the rest of the family.

One common misperception is “I can only get this from my mom.” That’s not true because these mutations are in genes that both men and women have. These mutations act a little bit differently in men and women because we don’t have the same breast tissue ... but when there’s a mutation in a gene, mom passes off half of her gene material and dad passes off half. So there’s a 50/50 chance of passing along that material and it doesn’t matter if it comes from a mom or a dad. ... We see some families that get really lucky and none of the children inherit the gene mutation and we see other families where it swings the exact opposite. It’s a flip of a coin for each child.

RELATED CHART: Risks for various cancers associated with the BRCA 1 and BRCA 2 gene mutations 

Q. Are there associated cancers with some of these gene mutations?

Yes. Wherever the gene is active in the body, that’s where it poses a cancer risk. We know that the BRCA 1 and 2 genes are active in breast tissue of both men and women, the ovarian tissue – so there are risks for those cancers, as well. There’s also a higher risk for  pancreatic cancer, prostate cancer and melanoma.

Q. So a BRCA test may give you a better sense about risks for all of these conditions?

Yes. ... Really all of these genes pose a risk for more than one cancer. What’s tricky is not only telling a person about the risk of breast cancer, but how this might change their risk for other cancers. It might add more to their plate but the whole goal is to be empowering. If I can tell a woman, “Here’s your increased risk of breast cancer but you’re also at an increased risk of colon cancer,” she might get colonoscopies every five years instead of every 10 years, or get her first colonoscopy at age 40 instead of age 50. So there’s a lot of things we can do to help prevent cancer.

Q. How much does the counseling and testing process cost? Who pays for it?

An appointment with me would be the same as seeing any other specialist. Typically, it’s a small co-pay. For the genetic testing, we’re seeing the vast majority of (insured) patients paying $100 or less. Many patients are paying nothing out of pocket because insurance companies are realizing that if they can prevent a cancer diagnosis, or catch it earlier, that’s going to be a huge cost savings in the end for them.

I know which labs are in network for which insurance companies and I order in-network genetics testing. On top of that, the technology is getting better and that’s driving down the price of testing.

Q. Are most insurance companies willing to pay if something in a family history might suggest a higher risk?

They are likely to pay for genetic testing if you meet their criteria. Most insurance companies follow the national criteria. The National Comprehensive Cancer Network put out a list of guidelines and that’s what most of them follow. Anyone can’t just walk in off the street and get genetic testing. That’s why where here. We take the family history and see if they’re qualified.

Q. What would be some of those national guidelines?

Anyone with a personal or family history of breast cancer diagnosed at age 45 years or younger. Anyone who’s ever been diagnosed with ovarian cancer. Someone with a family history of ovarian cancer. Someone with three or more breast cancers among their family members. There are different ways to meet criteria. And it depends on the gene, too. BRCA 1 and 2 are also associated with pancreatic and prostate cancer, so if we see a constellation of other cancers in a family, that could be and additional way a person could qualify.

Q. Does this pretty much hold true of any sort of cancer that runs in a family?

Colon cancer diagnosed at 45 or younger would be a red flag. It depends on age at diagnosis and how many with that center in the family. It also depends on if that cancer is likely to be caused by a gene mutation. Cervical cancer is not a concern to me as a genetic counselor because it’s usually caused by HPV, the human papilloma virus, which we’ve created a vaccine for. So cervical cancer I don’t figure in to my equation at all.

Prostate cancer in men is very common. That’s not usually a red flag for me unless we find out it’s a very aggressive form of cancer or it occurred at a very young age. There’s all these kinds of caveats.

Also, there’s a really high risk in the BRCA 1 and 2 gene mutations of women of Ashkenazi Jewish ancestry, so that’s another red flag for us. The incidence of a mutation in one of these genes happening in the general population is 1 in 400. In woman of Ashkenazi Jewish ancestry, it’s about 1 in 40.

Q. How many genes do we have and why is this so complicated?

We have over 20,000 genes in our body and this is just a small snapshot of those genes. Taking a really detailed medical and family history can help us narrow down the field. I ask a lot of questions some people find to be funny – "Does anybody in your family have a large head size?" "Do they wear a large baseball cap?" – because we know the PTEN gene can do more than cause cancer. It can put people at an increased risk of autism and developmental delays, and it can cause people to have larger head sizes. So sometimes I pull out my measuring tape. It’s hard because there’s so many different genes that cause so many different types of cancer. More and more, we’re learning the spectrum is even bigger than we thought.

Q. How many genes have been identified of these 20,000-plus? How do you know how they work?

That’s what I leave to the scientists. I’m in a position to take all that hard work and research and translate it into a way patients can understand. I focus on what we know now, what is actionable and how that can help my patients.

Q. Is there more that we do know or more that we don’t know when it comes to gene testing?

There’s way more that we don’t know. ... I think we’re going to find a lot of other genes that pose increase risks but maybe not as high as a BRCA 1 or 2 gene.


Twitter: @BNrefresh, @ScottBScanlon

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