Transcript

Episode 4: Cancer Risk & Genetics: Understanding Testing, Prevention, Treatment & Advocacy with Lisa Schlager

KEY TOPICS

• Introduction: concerns of people at risk of hereditary cancer; FORCE, a national advocacy organization; and Lisa Schlager, VP of Public Policy  at FORCE  [00:00 - 3:15]

• Tell us about your personal journey with hereditary cancer, and how you got involved in advocacy work? [3:15 - 11:23]

• What is GINA, the Federal Genetic Information Nondiscrimination Act, and what protections does it offer–and fail to offer—for people living at risk of genetic disease? [11:23-14:01]

•  How FORCE is advocating with state legislatures to expand anti-discrimination protections beyond those offered by federal law? [14:01 - 16:50]

• What are some specific examples of issues you're working on at FORCE to help make sure that people living at risk of hereditary cancer get the healthcare they need? [16:50 - 20:01]

• What does Medicare cover when it comes to genetic testing for hereditary cancer? [20:02 - 22:06]

• Why is it so important for healthcare providers and people to understand if they have a risk of developing hereditary cancer? [22:07 -  24:50]

• What are some resources for people who are concerned that cancer in their family could be hereditary? [24:50 - 26:33]

• What can healthcare providers do to help people understand and respond to the potential inherited risks of cancer? [26:34 - 30:53] 

• Wrap-up [30:54 - 32:18]

Interview

[00:00 - 3:15]

Susanna Smith: Hi everyone. This is Genetic Frontiers. A podcast about the promise, power and perils of genetic information find us wherever podcasts are found and go to geneticfrontiers.org to join the conversation about how genetic discoveries are propelling new personalized medical treatments, but also posing ethical dilemmas and emotional quandaries. I'm your host, Susanna Smith.

On today’s episode, I will be talking with Lisa Schlager, the Vice President of Public Policy at FORCE. FORCE, which stands for Facing Our Risk of Cancer Empowered, is a national advocacy organization focused on helping people who have or are living at risk for developing hereditary cancer. I became interested in Lisa’s work at FORCE because some of the issues she works on are shared by all people living at risk of developing a genetic disease. I’m one of them. 

As I’ve shared and written about elsewhere, I have a 50% risk of developing a rare, autosomal dominant genetic disease, CADASIL, for which there is no treatment and no cure. I am concerned about issues of genetic privacy, potential genetic discrimination, and the fact that my at-risk genetic status can be used against me, legally, in applying for certain types of insurance by either. 

FORCE advocates for antidiscrimination measures and data privacy protections to safeguard health and genetic information and minimize the ability of insurers to use this information in policy or premium decisions. I’m hoping Lisa will share more with us later about some of the current reform efforts being pushed forward and how people can get involved in these issues. 

The work to create more expansive laws that prevent genetic difference from being a source of discrimination is critical for protecting people like me, but really, it’s critical for protecting all of us. Because as science charges forward, researchers are finding that many—maybe most—people carry genetic differences that put them at high risk for developing some kind of disease.

What it means to live at risk of developing a hereditary disease is fundamentally different depending on what the disease is. In the case of CADASIL or Huntington’s, for example, there are few treatments and no cure. But with hereditary cancer, there are things families and healthcare providers can do to help people live longer and healthier lives. This includes high-risk cancer screenings, chemoprevention, risk-reducing surgeries, genetic testing for specific mutations, and targeted treatments. 

FORCE is dedicated to helping ensure that everyone living at risk of developing hereditary cancer has affordable access to the healthcare they need.  Lisa spearheads FORCE’s legislative and policy work, advocating for the unique needs of people who carry inherited mutations that increase their risk of cancer. Lisa herself carries the BRCA1 mutation and is a cancer previvor, a person at risk for developing cancer in the future. She is well-versed in health care and genetic privacy laws and national guidelines. She is an expert on policies that affect cancer screening and preventive services as well as treatment. Lisa, thank you for joining me today on Genetic Frontiers. 

Lisa Schlager: Thank you for having me.

[3:15 - 11:23]

Susanna Smith: Would you be willing to talk a bit about your personal journey with hereditary cancer, and how you got involved in advocacy work?

Lisa Schlager: Sure. And and I appreciate you asking, I will say a lot of people are a little a little private and and sometimes are not open to sharing. I have been very open with my experience, though, and I do it because I think it can help other people.

I come from a relatively small family that does have an Ashkenazi Jewish background, which can be a red flag or associated with a higher risk of carrying a BRCA1 or BRCA2 genetic mutation that, you know, is associated with increased risk of breast and ovarian cancer but also pancreatic and prostate cancer as well as melanoma, which a lot of people don't know. 

And when I was a young adult. My father's sister, who was in her forties, was diagnosed with early stage breast cancer. This was in the late nineties, which seems like ages ago, but she happened to be in the right place at the right time, a hospital in New York. They asked if she would be willing to participate in a research study that was trying to figure out how common these hereditary cancer mutations were in young women diagnosed with breast cancer. Specifically, they were looking at women with premenopausal breast cancer. And so my aunt figured, why not help science? And surprisingly, she did test positive for the BRCA1 genetic mutation.

And then when they started digging back into our family history, they realized that my grandmother's supposed lung cancer was actually a metastasis from her breasts. And then one of my great-grandmothers died of what we were told was “female issues” whatever that means. So you can see how sometimes family history of a disease isn't well communicated, especially when people didn't understand the value of sharing that information. But because of my aunt's test results, I was tested. My father was tested, and subsequently other family members have tested as well, and obviously my father tested positive, and so did I. And so it was pretty new at the time. People didn't know much about these genetic mutations. They'd only been testing for them for a couple of years at least in the cancer space. And I, you know, was advised. I had a great genetic counselor, and she told me I needed to do increased screening and gave me some other options. 

But I was so busy, just recently married and excited to start my family. It was a scary thing, but I was somewhat able to compartmentalize it and just say, “Okay, I'm gonna go do my screenings. And I'll kind of deal with this later.” Problem is, you know, you can't always keep it on the back burner. And so I had two lovely children, and moved through my thirties, and as I was approaching my fortieth birthday, my doctor said, “Hey. You really need to consider surgery to remove your ovaries and fallopian tubes that's called a salpingo-oophorectomy.

That's a scary thing for a woman because it puts you into menopause at a much younger age than you would typically go into menopause. And I wasn't thrilled about that. But also I was terrified of the idea that I could get ovarian cancer because it's so challenging to treat. Unfortunately, we don't have good screening or early detection for it. So that's why the surgery is recommended once a woman has finished having her family. But I was kind of not wanting to so we did a lot of research. Ultimately, I did go through with a surgery. [But for awhile beforehand] I was continuing to just monitor my breasts with alternating mammograms and breast MRIs every six months, which is the recommended screening protocol. My goal was to continue doing that increased screening forever. But things change sometimes, and I will say my feelings when I was thirty-two and had no children were very different than my feelings when I was forty-two with two young children.

And I had to go through a number of biopsies. And they discovered atypical hyperplasia, which is basically pre-cancer in the last biopsy I had, and it really scared me because I felt like for somebody with my genetic risk it wasn't a question of if I was going to get breast cancer, but probably when. And so I started rethinking my approach.  Was just screening gonna be enough for me and determined for myself that ultimately risk-reducing surgery or prophylactic mastectomy was the path I wanted to take. Because I didn't want to get diagnosed with cancer with two young children at home and have to go through everything that wouldn't be entailed with a diagnosis. Not everybody has that opportunity. So I feel very, very fortunate that I was able to have the knowledge about my risk and to make that decision for myself.

Insurance covered it. It didn't make that anymore less stressful. But as I look back I feel lucky, in a sense that I had the knowledge I needed to make an informed healthcare decision and to make the right decision for me at the time in my life, you know.  And those decisions can change based on where you are. Another option for people like me, or even somebody who's diagnosed with cancer sometimes is to take chemo prevention. So some people take something like tamoxifen, which is an estrogen suppressor. And it actually is associated with lower risk of breast cancer. So that's an option that previvors are often given, but also women who've been diagnosed with very early-stage breast cancers, or who are, you know, at higher risk of the disease. So I feel blessed in a way that I have this knowledge, and that's part of why I'm so passionate about the work I do with FORCE and just in the community in general, because I feel lucky that I got the information I had. I feel lucky that I have decent health insurance, and I'm able to advocate for myself.

I think every person deserves those same advantages. And I will say that's why our advocacy for anti-genetic discrimination laws is so important because there are more and more of us that are being identified. And it's crazy that they can use that information against us. Definitely, let's cause an up swell and try to change the landscape for our communities.

Susanna Smith: Yeah, I agree. 

And, Lisa, thank you for sharing your personal story. I know it can be really hard, and these stories often involve family pain and loss and things that people just want to move on from. And they don't want to talk about.

But I think the more that we do talk about this, the more we'll find that genetic disease affects so many families. It's important to understand what it is and what can be done about it.

[11:23-14:01]

Susanna Smith: So I wanted to change a course a bit and talk a little bit about GINA, which is the federal Genetic Information Nondiscrimination Act. Could you talk a little bit about what GINA does and doesn't do to protect people living at risk of genetic disease?

Lisa Schlager: Absolutely, it's a great question. So the Genetic information Non-discrimination Act, also known as GINA, prohibits discrimination by health insurance plans and employers based on genetic information. So what exactly is genetic information? So they went so far as to define that in the law genetic information is your genetic test results; your relatives’ genetic test results up to fourth degree relatives; or family history information about any disease or disorder. So it's pretty comprehensively spelled out there. And the information about your participation in research that includes genetic testing or counseling or even learning about genetic mutations is also protected under this law.

What's interesting is, unfortunately, the law has some exemptions, pretty pretty key exemptions, including the fact that it does not apply to life insurance or long-term care or disability insurance. These insurers, at least nationally, are allowed to use genetic information or family health history information to make coverage decisions or premium decisions.

Some states have passed their own genetic protection laws which provide additional security against genetic discrimination in these types of insurance. But the most comprehensive laws and the best laws are actually currently in Florida, and most recently Tennessee just passed a law. So those are states that we're looking to as examples. I'd also like to note that this particular law, GINA, does not apply to members of the U.S. military, veterans who go through the VA for their healthcare, as well as people who get healthcare through the Indian Health Service or federal employees, who are enrolled in the Federal Health Benefit program. These different programs have their own protections against discrimination that are outside of the Genetic Information Nondiscrimination Act but they do provide similar protections in other ways. Overall, GINA, it was put in place to help protect us at least in two key places, health insurance and employment from any type of discrimination. And it's really a critical law for people who are at risk of hereditary diseases such as myself. And you.

[14:01 - 16:50]

Susanna Smith: Thank you, Lisa. So I know through your work at FORCE you advocate with state legislatures to help pass laws that expand on the protections that are in GINA. You talked about Florida and Tennessee as two of the examples where those protections have been passed. Can you tell us a little bit about laws where FORCE is working to advocate to expand protections right now?

Lisa Schlager: Yes, thanks. It's a great question. And I will say that historically, our organization has focused on federal policy, and there hasn't really been an appetite to expand GINA at the federal level, at least not at this time. So we've started to look toward State advocacy efforts, and working with state legislatures to pass laws that build on the protections that GINA provides.

States are a little bit tricky because each legislature functions differently. Many of them have very short legislative sessions. But just in this past year we've done work in a handful of states. There's currently a very active effort in the state of New York. We're very engaged with a coalition of groups, multi-stakeholders, not just people in the cancer arena, but also other disease areas such as ALS and diabetes and heart disease, which all have some sort of genetic component to them. And we are working with lawmakers in the state and others to try to pass a bill that would make genetic discrimination and life insurance as well as disability and long-term care insurance illegal in that state. We're hoping that that moves forward in the coming year. It is in New York. They have a two- year legislative session so we're about halfway through and still hoping to gain momentum and to pass that law in 2024

This year there were also bills introduced in Illinois and South Carolina. And both have sessions that carry over into 2024. So we are also working in these states to push these efforts forward. Unfortunately, in Maryland a bill was introduced in 2023, and it failed to move forward before the legislative session ended. So we will be looking to revive that bill in 2024. I will say that we are open to pursuing this type of legislation and working toward additional protections in any state that there was an opportunity. So lawmakers or people who are personally impacted, if you're interested in pursuing this in your state. we'd be interested.We'll share information on how to reach out to me or our organization later in this conversation.

Susanna Smith: Great, thank you, Lisa.

[16:50 - 20:01]

Susanna Smith: Could you talk a little bit about other specific examples of issues you're working on at FORCE to help make sure that people living at risk of hereditary cancer get the healthcare they need?

Lisa Schlager: So people with hereditary cancer do have some unique needs like many people who are at increased risk of any type of disease. In addition to our work around genetic privacy and protections, a big part of our public policy and advocacy focus is to facilitate affordable access to cancer screening and preventive services and the treatments that are needed by members of our high risk cancer community.

So these are people who have a strong predisposition to cancer because of their genetic mutation as well as people who've already been diagnosed with cancer. These people are at risk of multiple cancers, not just one type of cancer.

So members of our community have a higher risk for cancers that often occur earlier and, as I said, multiple cancers. So medical guidelines typically recommend more intensive and more frequent cancer screenings that start at younger ages. For instance, a woman with a BRCA mutation by national guidelines, the national comprehensive cancer network is typically what we refer to, is supposed to commence breast cancer screening with breast MRIs starting at the age of twenty-five. So that's a big departure from what the population, at average risk of cancer does, where they start mammograms maybe around age 40.

Another example would be somebody with a Lynch syndrome mutation, which is one of five  mutations that causes very high risk of colorectal cancer. So individuals with Lynch syndrome also are supposed to start their colon cancer screening between the ages of 20 and 25 with a colonoscopy every one to two years.

Again, that's very different than the general population who is advised to start colon cancer screening around age 45. Unfortunately, these screenings don't have to be covered by health insurers.

Typically, they are “covered,” but the cost is applied to the individual's deductible, and that can be cost prohibitive. If you have a $5,000 deductible, and you're going for a colonoscopy every year, you might be paying $2,000 or $3,000 out of pocket every time you go. So part of what we do is try to work to pass laws at the state and federal level that eliminate these costs for high risk individuals because cost ultimately is a barrier to care. 

If somebody has to choose between putting food on the table or going for their cancer screening. They're going to put food on the table. So our goal is to eliminate that potential barrier. So that's a big example of the type of work we're doing. 

There are bills at the federal and state levels in that regard. And we also are working to do things like expand coverage of genetic counseling and testing, both at the state and federal level as well.

[20:02 - 22:06]

Susanna Smith: Yeah. And one of the things that sort of caught my attention in some of our earlier conversations was around Medicare. Could you talk a little bit about what Medicare will and won't cover when it comes to genetic testing?

Lisa Schlager: Thanks for asking, because this is a passion point for me.

Medicare is a very unique kind of health insurance program that we offer here in our country, and unfortunately, it does have some problems. So currently, Medicare is statutorily prohibited from covering preventive services unless they are expressly authorized by Congress. And unfortunately that means for individuals who enter Medicare and determine that for whatever reason they meet the criteria for genetic testing, based on family history or personal history, the only way Medicare will cover that genetic testing is if they already have cancer. So basically, Medicare waits until you have the actual disease before they're willing to do the testing which isn't optimal. Obviously, we want to prevent cancer if we can or to detect it earlier.

So the whole goal is to test people before they have cancer. So we're working on what's called the Reducing Hereditary Cancer Act. It's been introduced in Congress and the Senate. And the goal of that legislation is to change the Medicare statutes to allow for individuals who don't have cancer but meet the appropriate criteria for genetic testing to actually be able to get that testing covered.

And then if they do have a mutation that causes increased risk that Medicare would cover the downstream care whether it be risk-reducing surgeries like a hysterectomy or increased cancer screenings or whatever else the individual might want to do to help eliminate or mitigate their risk of cancer.

This is something we're very passionate about. And we're hopeful that it will move forward in Congress. 

Susanna Smith: Yeah. Fingers crossed.

[22:07 - 24:50]

Susanna Smith: So cancer, unfortunately, is an illness that touches so many families. But best estimates suggest only 5 to 10% of people diagnosed with cancer have a hereditary form of cancer. So could you talk a little bit about why then it's so important for healthcare providers and people to understand if they have a risk of developing hereditary cancer?

Lisa Schlager: Absolutely. So we don't know why most people get cancer. Let's face it, we know age increases risk and other factors. But the reality is we really don't understand why most people get cancer. But when it comes to hereditary cancers they're the people with the genetic mutations that cause the increased risk are actually the poster children for prevention.

So identifying these individuals can make a huge impact not only on the individual as well as their family members because this is a family issue. It also can help save healthcare dollars and make a dent in our overall cancer rates as well as the health and wellbeing of our community in our country. And as we move forward and with advances in genetics and genomics, I think we're going to find that there is a genetic basis to many more diseases and many more types of cancers than we realize.

While maybe in general 5 to 10% of cancers are considered hereditary, so, for instance, up to 10% of breast cancers are considered hereditary, for other cancers like ovarian cancer the estimate is nearly a quarter of those cancers are due to genetic mutation. So it just depends. It can be very valuable, this information can serve to empower people to make informed medical decisions about their care. They can start screening earlier. They can be eligible, if they've already been diagnosed with cancer, for specific targeted treatments that work better for people with mutations.

So there's really a whole host of reasons that you would advocate for identifying these individuals and helping them access the appropriate information and resources so that they can make the best decisions for them with the guidance from the healthcare providers to either minimize or really significantly reduce their risk of those cancers.

Susanna Smith:  Yeah, of course, that's always the aim.

[24:50 - 26:33]

Susanna Smith: So if someone listening to this episode is concerned that cancer in their family could be hereditary. What are some resources you would point them towards? 

Lisa Schlager: First and foremost kudos to the individual for, you know, recognizing that you may have a pattern in your family that looks like it could be hereditary cancer. And I will say that that pattern can look very different, depending on the family. Most often people think, oh, it's just about breast cancer or ovarian cancer. But that's not true at all. A lot of families in our community have different family members, with lots of different cancers prostate, or pancreatic, or colon, and the ages of those cancers and all kinds of other criteria come into play. So the first thing to do would be to try to gather as much information as you can about your family history. 

But then you can visit our website, which has really the most comprehensive, easy to understand information to help point you in the right direction. So the FORCE website is https://www.facingourrisk.org/. We give people all the information they need to move forward, how to find genetic counselor how to access genetic testing, and then what to do with that information, and even the pros and cons of genetic testing, and who might qualify and who potentially wouldn't qualify for coverage of testing. All that information is available on our website. And many other cancer organizations also have some information. Our organization is sort of the main clearinghouse for the hereditary cancer community.

Susanna Smith: Yeah, I've spent a lot of time on your website actually preparing for this episode. And it's really written for people to be able to understand it, and I would definitely recommend it as a resource.

[26:34 - 32:18]

Susanna Smith: So thinking now about healthcare providers, what more can they do to help people understand and respond to the potential inherited risks of cancer?

Lisa Schlager: Healthcare providers are really in a unique position to make a difference.

And I think it's really important, first of all, for them to recognize that they have their own biases. So we often will have patients come to us who say my healthcare provider told me that I shouldn't bother with genetic testing because it wouldn't make a difference anyway, or my healthcare provider told me that it's really expensive to get genetic testing, and my insurance isn't gonna cover it. So they discouraged me. And the truth is neither of those situations are accurate. So I think the most important thing a health provider can do is to have a conversation with their patients and to do their best to collect a good family health history and do a good risk assessment to determine if somebody may be at increased risk, and that includes collecting information about any type of cancer, not just breast and ovarian, but also colon, pancreatic, prostate, gastric, and endometrial and not just from first degree relatives. They actually recommend drilling down to third degree relatives so aunts and uncles, grandparents, cousins. All of those people make a difference, and to remember that people can inherit the predisposition to disease from both their mother and their father. A lot of times we don't think about that.

I myself, my BRCA mutation was passed down through my father. My father hasn't had breast or ovarian cancer but he is at higher risk for prostate and pancreatic cancer. So if somebody said, “Do you have breast cancer in your family?” I might say no. When in reality you have to look at the makeup of the family to determine what cancers might be significant. But then once that information is gathered to really look at it, and to have a conversation with the patient and say, “You know, this looks a little suspicious. I'm not sure. Maybe we should refer you to a genetic counselor to have, you know, a fuller assessment done.” I will say, genetic counselors, even though we know that there aren't enough of them but there are geneticists. There are also nurses who specialize in genetics. These individuals are really trained to understand the warning signs and to know the right test order because it can be complicated. So if you don't have specific training, and let's face it, you know, primary care doctors especially they have so many things they have to do. There's no way they can be an expert in genetics, too, so don't be afraid to refer your patient to a genetic counselor. It's available by telemedicine these days. So even if the patient lives in an area where the closest genetic counselor is three hours away, they still have access. That genetic counselor can really drill down and figure out if testing is warranted. They can help make sure that the health Insurance company will pay for it, and then they can choose the appropriate test for the individual. 

And then the next thing I would say is, just support that patient, because it can be a scary thing when you learn that you have one of these mutations. So don't be afraid to, you know, support the patient, and also admit to them you're not an expert in this, but you can help refer them to other healthcare professionals who, for instance a gynecologic oncologist or a breast surgeon or a breast oncologist, who may be able to provide them with more specific knowledge and expertise about that mutation. So I think we're gonna see more and more of this genetic testing in our healthcare system. And so I think all doctors should be knowledgeable enough to gather that family history and then to refer out if they don't have the expertise to help manage it.

[30:54 - 32:18]

Susanna Smith: Well, thank you, Lisa, for joining me today on genetic frontiers for anyone listening who would like to learn more about hereditary cancer or ongoing advocacy work at force, including support groups for families living at risk of hereditary cancer, go to https://www.facingourrisk.org/

Genetic Frontiers is co-produced by Brandy Mello and by me: Susanna Smith. Music is by Edward Giordano and design by Abhinav Chauhan and Julie Weinstein. Thank you for listening to this episode of Genetic Frontiers connect with us at geneticfrontiers.org or on Instagram and Linkedin at Genetic Frontiers, to continue the conversation. If you enjoyed this episode and would like to support our independent production. Please make a donation to Genetic Frontiers through our Patreon account.