Kidney Cancer Genetic Conditions and Genetic Counseling, with Brian Shuch, MD, and Lauren Bear, MS, LCGC

June 9, 2021
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Today, we're going to be talking about genetic conditions linked to kidney cancer and what people with these conditions should know about genetic counseling. Our guests are Dr. Brian Shuch and Lauren Bear. Dr. Brian Shuch is the director of the Kidney Cancer Program at UCLA Health in Los Angeles, California. He is also 1 of the specialty editors for genitourinary cancers at Cancer.Net. Lauren Bear is the lead genetic counselor at the Familial Renal Cell Carcinoma and VHL Disease Clinic at Massachusetts General Hospital in Boston, Massachusetts. 



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Brielle Gregory Collins: Hi, everyone. I'm Brielle Gregory Collins, a member of the Cancer.Net Content Team, and I'll be your host for today's Cancer.Net podcast. Cancer.Net is the patient information website of ASCO, the American Society of Clinical Oncology. Today, we're going to be talking about genetic conditions linked to kidney cancer and what people with these conditions should know about genetic counseling. Our guests are Dr. Brian Shuch and Lauren Bear. Dr. Brian Shuch is the director of the Kidney Cancer Program at UCLA Health in Los Angeles, California. He is also 1 of the specialty editors for genitourinary cancers at Cancer.Net. Thanks for joining us today, Dr. Shuch.

Dr. Brian Shuch: Great. Thanks for having me.

Brielle Gregory Collins: Also joining us is Lauren Bear. Lauren Bear is the lead genetic counselor at the Familial Renal Cell Carcinoma and VHL Disease Clinic at Massachusetts General Hospital in Boston, Massachusetts. Thanks for joining us today, Ms. Bear.

Lauren Bear: Thank you so much for having me.

Brielle Gregory Collins: Before we begin, we should mention that Dr. Shuch and Ms. Bear do not have any relationships to disclose related to this podcast, but you can find their full disclosure statements on Cancer.Net. Now to start, Dr. Shuch, what is the definition of a genetic or inherited condition?

Dr. Brian Shuch: Really, this is any condition that would develop that is really strongly influenced by somebody's genes that they would inherit from a family member. But there are lots of kind of complex definitions we can go into, but really anything that develops directly influenced or modulated by their genes that they inherit.

Brielle Gregory Collins: Thank you for defining that. And how are genetic conditions diagnosed?

Dr. Brian Shuch: So there are different ways, obviously, with the ability to have DNA sequencing done at a fraction of the cost from 10, 20 years ago, we can quickly and effectively sequence somebody's genes. But there are some times where we see patients that they have clinical features of a particular syndrome. And we have given patients a clinical diagnosis of that condition and follow them the same way if they meet some pre-specified criteria. But not every condition actually has a clinical diagnostic criteria.

Brielle Gregory Collins: And getting into those specific conditions a little bit, briefly, what are some of the most common genetic conditions that are linked to kidney cancer?

Dr. Brian Shuch: So there are about 18 different genes, which when inherited with a damaged copy, you potentially will have some increased risk. Some of them are the well characterized ones, which everyone is familiar with that have been around for decades. Most commonly, people are familiar with Von Hippel-Lindau, which has been described now about 100 years ago, but there are other conditions too. Birt-Hogg-Dubé, which is another common 1. The 1 that I study, hereditary leiomyomatosis and renal cell, we actually believe is the most common 1 based on newer data. But other ones, such as hereditary papillary renal cell, there's a bunch of ones linked to a hereditary paraganglioma syndrome called STH. But we have plenty of new and emerging conditions, and we're learning new things every year.

Brielle Gregory Collins: Thank you for running through all of those. And if someone is diagnosed with kidney cancer, what are some of the signs that they might have 1 of these genetic conditions?

Dr. Brian Shuch: So first and foremost, when you're with a patient, you look at their age and if someone has really early age of onset, it should be a red flag. Age alone is controversial whether you should do testing, but that should be a red flag. Whether someone has 1 tumor or more than 1 tumor obviously is important. Both kidneys or 1 kidney. But taking a family pedigree is very important. Most clinicians may just say any kidney cancer, but really understanding at least 2 or 3 generations can really help kind of outline somebody's inherited risk.

Finally, the pathology. There are about 20 flavors of kidney cancer, not all of them have the same type of risk. But we actually can learn a lot from a very outstanding pathologist that looks with special immunostains or they look at particular features under the microscope. And a lot of times, a good pathologist can pick this up. And when they do, we have very high likelihood of diagnosing someone with a hereditary form of kidney cancer.

Brielle Gregory Collins: Thank you. And as far as being diagnosed and how it affects the way someone is treated, can you describe how being diagnosed with a genetic condition may change the way kidney cancer is treated?

Dr. Brian Shuch: So not all types of kidney cancer are the same. It is 1 of the most diverse forms of cancers that we have. Just because they arise from the kidney does not make them the same. There are some which are very indolent and other ones which are extremely aggressive. So if I found a patient with a 1-centimeter kidney tumor and I knew it was sporadic, I may consider watching that patient and doing what's called active surveillance. If it's a patient who actually is a family member of 1 of our patients just diagnosed with HLRCC, that patient was placed on active surveillance and there's no way we would watch that type of tumor because it has much more aggressive biological potential. We would definitely recommend intervention for someone with that type of disease. Biology of the tumor really predicts behavior.

Brielle Gregory Collins: Thank you so much. And can you describe how common it is for someone to be diagnosed with inherited kidney cancer?

Dr. Brian Shuch: So that's a great question. It's something which is not really perfectly understood at this time. There's been very wide estimates, anywhere from 1% to maybe 8% of kidney cancer might have a very strong inherited component, whether it's due to a single gene that also may be somewhat variable, but I would say it's probably less than 10% of patients actually have a strong inherited predisposition. So we don't refer all patients for testing. And everyone's threshold to send someone for testing varies. But I think obviously, talk to your clinician. I think in this era where testing is fairly cheap and the risks are very low, I think as a default, most clinicians should err on sending patients to a genetic counselor and the genetic counselor can walk things through. Often the history that a clinician takes is somewhat insufficient. And I think the genetic counselors are really great at going through a 3-generation pedigree and then deciding whether testing should be pursued. So not everyone should be referred and not everyone referred should actually undergo testing. But I think the first step usually comes with recognition by the clinician. I'm interested to hear what Lauren thinks about this as well.

Lauren Bear: Yeah, I completely agree. It's a good point that we're more than happy to meet with any patient that a physician is concerned could have a hereditary kidney cancer condition. But exactly like Dr. Shuch described, not every family history is very high risk. And so, yeah, I completely agree.

Brielle Gregory Collins: And Ms. Bear, I want to get into a little bit about genetic counseling. So if a person is referred to genetic counseling, how can they best prepare for their appointment?

Lauren Bear: So during the visit, a genetic counselor will likely ask, as Dr. Shuch described, about their personal and family history to assess risk for 1 of these conditions. And there are some helpful things that people can prepare in advance for this appointment. First are factors related to their personal history. So like Dr. Shuch described, because some of these hereditary cancer syndromes are related to specific types of kidney cancer, it may be helpful to gather information about your own cancer diagnosis and your own personal medical history if it's not already included in the referral or the medical chart, and also gathering information about your family history. So asking some people to research with their family members to see who has had any cancer, what are the ages of diagnosis in their family members’ medical history. And that often, again, like Dr. Shuch described, will be to ask about children, siblings, parents, and grandparents to create that 3-generation pedigree or family tree.

I think sometimes patients like to discuss the appointment in general with their family member before it happens, because the process of genetic counseling can often involve this option of genetic testing, which could have impact on family members. So beginning that conversation early with relatives can be helpful sometimes. And lastly, some patients like to talk to their insurance carrier about coverage of the appointment itself or even about the genetic testing, although very often talking about the actual genetic testing coverage will be discussed at the appointment with the genetic counselor. So working in advance to get some of these things together can be really helpful to prepare.

Brielle Gregory Collins: Got it. And as far as the meeting itself, what happens during and after the initial meeting with the genetic counselor?

Lauren Bear: Yeah, so overall, the genetic counseling appointment will involve a genetic evaluation during the initial session and then afterwards, a discussion about any test results and/or follow-up recommendations for the patient and their family members. So during the session, as I stated before, the genetic counselor will ask about this personal and family history and ask about other features that may be suggestive of a known hereditary kidney cancer syndrome. Sometimes that might involve a physical exam with a physician, depending on the indication or the clinic set-up. The genetic counselor will provide basic understanding of genetics and the basis of hereditary kidney cancer to make sure the information that is shared and the recommendations are all put into context for the patient and their family.

And then, based on the factors seen in the personal and family history, the genetic counselor will provide a risk assessment, which is a discussion of the possible genetic risk factors that could be explaining the kidney cancer or other cancers in the family. And as, again, Dr. Shuch described, to evaluate very often, this can include a discussion about genetic testing, which can be done on blood or saliva. Both are equally accurate, and it often can be performed via a multigene panel where we look at more than 1 of these conditions at once. But it's also important to realize that this testing is optional. So it is up to the patient if they would like to proceed with any of this testing. And an informed consent is a really important part of this discussion as well, to make sure the patient understands the benefits and limitations of this testing and to confirm if they do or do not want to move forward with the testing.

So that's overall what happens during the session and afterwards, if testing is performed, then genetic testing results are communicated to the patient. Depends on the clinic set-up how that's done, if it's through a telephone call, virtual visit, in-person visit. This may be together with the physician, again, depending on the set-up. But in this results disclosure, the genetic counselors and the medical team, they're equipped to convey these results with their patients. So they keep it in context with their own personal and family history and to help the patient adjust to the results, whatever the results are, because learning about genetic test results can sometimes be challenging. So a genetic counselor's role is to provide support and help the patient adjust however they can.

Brielle Gregory Collins: So it sounds like it's really a discussion between the patient, their genetic counselor, and the rest of their health care team to see if genetic testing is something that's right for them.

Lauren Bear: That's exactly right. That's exactly right.

Brielle Gregory Collins: Got it. And how does meeting with the genetic counselor help a person with kidney cancer and their family?

Lauren Bear: So when someone first learns there's a possibility of a hereditary reason behind their kidney cancer, many questions or feelings may arise from how this could impact their own health and how it could also impact the health of their family members. And this is all very natural. So the goal, as I stated before, is for the genetic counselor to help guide the patient and their family members to learn more about their risk and figure out who else might be at risk in their family. So, for example, if a positive test result is found or a diagnosis of a hereditary kidney cancer syndrome is made, the genetic counselor's skills are to identify the appropriate follow-up for that patient. So whether it's follow up with a physician to monitor for potentially another kidney cancer, or some other type of cancer, or some other symptom related to these conditions that Dr. Shuch described. And so that's part of when we're thinking about the genetic counselor's role with the patient and their own medical care, it's for that follow-up and helping them adjust.

When we think about for their family, a genetic counselor's role would be to help identify who might be at risk. So discussing cancer risk in families is not always the top of conversation. And so the role of the genetic counselor is to help work through ways to facilitate these conversations with family members. Not everybody in the family may be interested at that moment to do genetic testing. So working with a genetic counselor can be helpful in brainstorming ways to share this information with family. Other times, family members are very eager to pursue genetic testing at that moment, so genetic counselors can help set up those consultations or find local resources. So often, long-term relationships can be established with a genetic counselor and the family and the patient.

And then also, if a negative result is obtained, there's no gene mutation detected and the patient's not diagnosed with a known hereditary kidney cancer syndrome, the medical team and genetic counselor may also still be able to provide recommendations as far as screening for the family. So it's not to say only if a positive result is found are recommendations made. So those are kind of how I think about how a genetic counselor can impact the patient and their families in a situation like this.

Brielle Gregory Collins: Thank you so much for walking through that. So for someone who is diagnosed with 1 of these genetic conditions, what are some tips that you'd share about how they can discuss the genetic condition related to their kidney cancer with their family?

Lauren Bear: Every family is very different and the genetic counselors and the physicians, their specialty is to help walk a patient through how family members might react to this kind of information and what kind of materials may be helpful to have on hand when someone wants to share this information with their family members. Many genetic counselors supply family letters detailing the results that the patient is welcome to share with their relatives, certain handouts. We've had family meetings and conference calls, which can be helpful tools. And so really the genetic counselor is really trying to help the patients have the language to facilitate these conversations or to have their own understanding. So if they can absorb this information themselves, they may be more comfortable sharing it with their relatives. And that process might take a little while to adjust to this information, to give yourself some time to ask questions of your own medical team so you can educate yourself and then feel comfortable to share it. Sometimes these discussions happen with children who may be at risk for hereditary cancer, kidney cancer syndrome. So making sure to use age-appropriate language and also having more of like an ongoing conversation rather than a one-time conversation with children can be helpful. But as with anything, as questions come up, I always say, "Don't hesitate to reach out to the genetic counselors or your medical team. We're here to help."

Brielle Gregory Collins: That's all really helpful. Thank you so much for your time and for sharing your expertise today, Dr. Shuch and Ms. Bear. It was great having you.

Lauren Bear: Thank you for having me.

Dr. Brian Shuch: Thank you.

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