New Toolkit Will Help Patients and Families Navigate Cancer Genetics
There are many misconceptions about genetic testing in cancer, but the SGO crafted a new toolkit to help patients and providers navigate the field.
BY Allie Casey
PUBLISHED November 21, 2016
The Society of Gynecologic Oncology (SGO) recently created the Genetics Toolkit to help providers, patients, and their families navigate the ever-changing field of cancer genetics.
CURE recently spoke with Kristin Zorn, M.D., a member of SGO about the importance of genetics in oncology, common misconceptions about genetic testing, and the upcoming changes and challenges for this field. Zorn is the director of the Division of Gynecologic Oncology in the University of Arkansas for Medical Sciences, College of Medicine, as well as an assistant professor in the Department of Obstetrics & Gynecology and the Division of Genetics.
What are some of the most important considerations in cancer genetic counseling?
One of the things we've seen over the past couple of decades is an increasing role that genetics can play in cancer predisposition, especially for ovarian and uterine cancer—so two of the most common cancers in my specialty are directly impacted by hereditary syndrome.
One of the hard things about ovarian cancer is, although we've made a lot of progress in diagnosing and treating it, we haven't made as much progress toward a cure as we would all hope. But the potential with identifying families with hereditary dispositions is that now we can help to prevent cancer altogether, and not have to wait for it to develop and try to catch it early and cure it, which we've really struggled with.
It's really important that genetic counseling and genetic testing go together. The counseling helps to explain to the patient and their family members what it means to undergo genetic testing. This isn't a simple check of your kidney function or your blood count. It's a test to see if there's a mutation in your DNA that can be passed through the family. It impacts not just you, but your family members that are directly related to you by blood.
And, a genetic predisposition can have implications not just for cancer risk, but for other decisions that you make in your life—about when you might start having kids—or how many kids you would have, life insurance considerations, for example. It has much broader implications than just knowing whether you carry the mutation or not. We want to make sure patients and their families really understand that going into the process.
The other piece of it is, a few years ago the Supreme Court invalidated Myriad's patent on testing for BRCA1 and BRCA2, one of the most common hereditary syndromes. And that has really made the field much more complicated, because now there are multiple providers. That competition has helped to bring the cost down for genetic testing, but it’s also gotten more complicated in terms of insurance coverage. Some insurers, for example, contract with a specific company.
It's a challenging field to navigate and so part of that is also what happens with genetic counseling and testing, making sure that insurance covers it, and will there be copays or out-of-pocket expenses for the patient. That piece of it is pretty complex as well, much more complicated than a lot of other medical tests that we order.
So, the financial aspects of testing are covered during genetic counseling?
The genetic counselor always addresses that. There are resources, and it varies based on an individual person's situation. That could be everything from being eligible for an Affordable Care Act (ACA) plan, because genetic testing is considered part of prevention which ACA has stressed—providing better coverage for prevention. Many more insurance plans cover genetic testing than used to even a few years ago.
Also, some genetic testing companies have aggressive patient support plans to help cover the costs. Depending on different institutions, some may also have funds available at their institution to help patients pay for genetic testing as well.
The next piece of it that we really have to keep working on, is making sure that costs related to prevention and screening are covered as well. Sometimes we find that is not happening, and I think that's where we need to keep working, on strengthening the prevention coverage in our healthcare insurance plans in the US. It makes more sense, financially, to prevent someone's cancer than to pay for it and treat it once it's developed. We've just got to get that mindset fully activated in our insurance plans.
What are some of the common misconceptions that patients or providers might have about genetic counseling and testing?
I think one of the most common ones is that if cancer doesn't run in your family, there's no way there could be a genetic mutation at risk. We have a lot of studies that are showing that in some of our common syndromes, like BRCA1 and BRCA2 mutations and Lynch syndrome, that sometimes as many as two-thirds of women that we identify when we just screen everybody, have no family history of cancer that would have raised our suspicion.
We really need to broaden our conception of what cancer family syndromes can look like. There are some families that follow that traditional model of lots and lots of cancers in the family, happening at early ages, more than one cancer in some individuals, all of those hallmarks, but there are plenty of families that don't follow that paradigm. So we're missing our opportunity to prevent cancer in as many people as possible if we're not thinking more broadly.
Number two is that a lot of people tend to be very fatalistic about cancer risk. They feel, "What's the point of getting testing showing that I'm at increased risk for cancer, because there's nothing I can do about it and it's just going to depress me to know that I'm going to die." Really, the whole point about this is that it gives us a chance to be proactive about cancer risks, so we can take steps to screen for cancer and find it at an early stage when it's much more treatable and curable, to take preventative action.
Some medicines can drastically decrease risks for cancer. And we sometimes take a more drastic step of doing preventative surgeries to remove organs where there is a high enough risk for cancer that we feel like that intervention is indicated. There's a lot we can do to help patients and their families manage that risk so that they hopefully never have to get a cancer diagnosis, or, if they do have cancer, find it early enough that it can be cured, rather than have it be a death sentence for them.
Finally, some people believe that genetic counseling and testing is something that you do one time and you're done with it; you've got your answer, and you know once and for all. But with how rapidly the field is changing, and our knowledge is expanding so quickly, I think it's really best to think of this as a process, rather than a one-time event.
I really encourage patients and their families, once they have contact with a genetics professional, like a geneticist or a genetic counselor, to touch base with them once a year. Update them on what's happening in their personal or their family cancer history, and that's often to check and see if there's been any advances in testing that would apply to them. Sometimes also our knowledge of what we can do to help manage people that we identify with mutations will have advanced. It's something that people need to check back in periodically, to make sure that they and their family are up to date.
Where do you think the future for genetics in oncology is heading?
I think there are two main places that we're seeing a huge impact. Some of them are based on germline mutations that can be carried in all the cells in our body, like BRCA1 and BRCA2. And the second are mutations that may just be present in the tumor itself. That has different implications.
A germline mutation helps us to know who's at risk, so we can try to manage that risk as effectively as possible and hopefully help put me out of business by having fewer endometrial and ovarian cancer cases being diagnosed. But it also does have treatment implications—we know that women who have BRCA mutations and have ovarian cancer, actually respond better to chemotherapy in general and have a better response to new agents, like PARP inhibitors. It has impacts there.
With the somatic mutations, it's even more focused on the treatment piece of it, where we have targeted therapies for many cancers that help to selectively address those cells that have those tumor mutations. It's required monumental amounts of research to get to where we are with that kind of targeted therapy and we still have a lot more to learn. Because even within one person's cancer, the diversity of the cells within that tumor is immense. So the mutation that might be present in some of the cells that's sensitive to that targeted therapy, there are also other cells that are not going to respond to it. So we may have to have a combination of targeted therapies or use them in sequence, one after the other to selectively kill out the cells that are sensitive to it. I think we're getting much smarter about the genetics of tumors to harness that for both prevention and now for treatment as well.
What are some challenges in genetics that aren't getting enough attention?
One of the huge challenges, one of the reasons why there aren't more genetic counselors for example, is that right now they are not recognized as healthcare providers in most settings, so they can't bill for their services. Healthcare providers that employ them have to get creative about how they cover the genetic counselor’s salary, since we can't simply bill for their services. Even though they have a masters-level degree and are the accepted medical professionals in their field.
This really needs to be addressed on the national level and once they can bill for their services, I think we would be able to see programs expand and the number of students trained every year so they're more readily available. Right now we have a huge crunch for genetic counselors and part of it is because hospitals are having challenges on the back-end covering their salaries.
What would you tell someone who is unsure about genetic testing?
There are so many families where people have been worried about this for years but it takes that first person to follow through. The one thing I always like to emphasize with people is that if you're concerned about your cancer risk or if you're a healthcare provider concerned about your patient's cancer risk but you don't feel like you have the knowledge necessary to guide genetic counseling and testing, please look around you to reach out for the resources that are there. There's a vast array of ways to get to that knowledge and get through the process, please don't just give up because you don't have a genetic counselor or geneticist immediately available to you. It can be the most important thing that you ever do for your own health and for the healthcare of the rest of your family.