Fighting Hereditary Colorectal Cancer Through Genetic Counseling With Catherine Skefos, MA, MS, CGC, and Julie Moskowitz, MS

In this edition of “Bridging the Gap in Cancer Care Through Genetic Counseling,” Editorial Member Catherine Skefos speaks with her colleague Julie Moskowitz, MS, Genetic Counselor in the Gastrointestinal (GI) Center at MD Anderson Cancer Center, about hereditary aspects of colorectal cancer, how she counsels patients and families regarding their risk of colorectal cancer and related syndromes, and how genetic testing can be used to inform screening decisions and ultimately reduce patients’ risk.  

Catherine Skefos, MA, MS, CGC: Welcome, everybody, to this edition of the Oncology Data Advisor podcast about genetics and genetic counseling. My name is Catherine Skefos. I am a Genetic Counselor at MD Anderson Cancer Center in Houston, Texas.

Today, I have my friend and colleague, Julie, here with us to talk a little bit about the genetics of colorectal cancer. March was Colorectal Cancer Awareness Month, so we thought now would be a great time to wrap that up by discussing hereditary aspects of colorectal cancer. So, Julie, can you tell me a little bit about yourself and a little bit about how you came to be a genetic counselor working in the colorectal cancer space?

Julie Moskowitz, MS: Yes, absolutely. Thanks so much for having me, I’m excited to be here. As you said, Catherine, we’re at the end of Colorectal Cancer Awareness Month, so it’s a great time to be on. My name’s Julie Moskowitz. I am also a Genetic Counselor at MD Anderson Cancer Center in Houston, Texas. I graduated from a genetic counseling program in 2013, so I’ve been a genetic counselor for coming up on 11 years now. All of my time has been in the hereditary cancer space, but prior to coming to MD Anderson, I was working at a smaller community hospital, seeing all different cancer types. The nice thing about working at MD Anderson is that we do get to subspecialize even further in the hereditary cancer realm within certain departments. I work specifically in the GI Center, so I see patients and families with a variety of different GI cancers, including colorectal, but sometimes other GI cancers such as stomach and pancreatic. I do have a particular interest in working with patients with colorectal cancer.

Ms. Skefos: Great. So, tell me a little bit about how a patient ends up in your clinic.

Ms. Moskowitz: There’s a number of different ways that patients can end up being seen for genetic counseling in the GI clinic. First, and I would say probably most frequently, are patients with an active diagnosis. If they’re being seen in our different clinics such as surgical or medical oncology and have a diagnosis of colorectal cancer, or if they have a significant family history of different cancer types as well, that’s one way patients can be seen. Also, patients can sometimes be sent over by gastroenterology. They may not necessarily have an active cancer diagnosis, but if they’re found to have numerous colon polyps or their gastroenterologist notes a significant family history, that is a good way for them to come see us.

Patients can also self-refer. Often, they’re just concerned or curious about their family history, and it’s always a good thing to be seen for genetic counseling to get a better idea of any concern for hereditary cancer risk. If our patients have tested positive for a hereditary cancer syndrome, we often see their family members to help with predictive genetic testing. One nice thing that has changed since the onset of the pandemic and the increase in telemedicine is we can often see new patients via video visits, by telemedicine. They don’t necessarily have to come to the MD Anderson campus in order to be seen. That has, I think, increased our scope of patients that we’ve been able to offer and facilitate predictive genetic testing.

Ms. Skefos: That’s great. It seems like there’s a lot of variety in the type of patients that you see and how they end up coming to see you. It seems like that would really contribute some interest and variety to your day, certainly.

Ms. Moskowitz: Absolutely. That’s one of my favorite parts about being in the GI clinic, that we get to see all different types of patients and families.

Ms. Skefos: That’s great. When you’re counseling a patient who has colorectal cancer, what do you tell them about how often or how likely it is that they might have a hereditary form?

Ms. Moskowitz: We know up to 10% of all colorectal cancers can be hereditary, and within that, about 3% are due to Lynch syndrome, which is the most common hereditary colorectal cancer syndrome. There are certain subtypes or subgroups where we might see a higher prevalence of having a hereditary colorectal cancer syndrome, such as our young-onset population. We have seen an increased prevalence of young-onset colorectal cancer, which we define as under age 50. We know that there are numerous studies out there that quote somewhat of a different risk estimate based on their population types, but up to about 20% of patients with young-onset colorectal cancer can have a hereditary form.

One thing that we’ve done at MD Anderson in order to try to expedite the process of genetic testing for all of our patients with young-onset colorectal cancer is we developed a universal germline testing program. We know we have limited resources when it comes to genetic counseling. There are just two of us in the GI center that see patients for genetic counseling, and that can potentially lead to an increased wait time for patients who need to undergo this type of genetic testing. At MD Anderson, our Clinical Cancer Genetics group has developed an educational video that is shown to patients on the front end that explains the process of genetic testing, some information on how that is coordinated and facilitated, and implications for the patient and their family members.

If they decide, based on watching that video, they’re interested in proceeding with genetic testing, our care coordinator in the colorectal center helps to facilitate that for them and order testing with upcoming lab appointments. That’s been a really nice process in order for patients to not necessarily have to undergo genetic counseling on the front end, but we as our genetic counselors do disclose all of those genetic test results to our patients. It’s been a nice process in order to make sure that the population that needs it is able to have quick access to genetic testing.

Ms. Skefos: That’s great. It seems like that allows you to really focus your attentions and efforts on those patients who test positive and who might need a little bit of extra education and counseling on the back end once those results are back.

Ms. Moskowitz: Absolutely, yes. It’s a nice opportunity to have that more in-depth conversation with the patients who test positive and who need that counseling.

Ms. Skefos: When you do talk with a patient who tests positive for a genetic mutation related to their colon cancer, what are the most common hereditary syndromes that you’re counseling about? I know you mentioned Lynch syndrome. Can you tell us a little bit more about that and some of the other conditions that you see?

Ms. Moskowitz: Sure, absolutely. We know Lynch syndrome, as I mentioned, is the most common hereditary colorectal cancer syndrome and one of the most common hereditary cancer syndromes in general. About one in 279 people will have Lynch syndrome, but unfortunately, a lot of those don’t necessarily know it until maybe they’re diagnosed with cancer or a family member is diagnosed with cancer. We know that Lynch syndrome is a hereditary predisposition syndrome that primarily causes an increased risk for GI cancers, the most frequent being colorectal cancer, but sometimes stomach, small bowel cancers, and then other types of cancers as well, like uterine and ovarian cancer and other cancers. It is very important for our patients to be aware of having Lynch syndrome because if they do, there are additional screening and preventive options that could be available to them, like earlier colonoscopy. With some of the Lynch syndrome–associated genes, that can be recommended starting as early as ages 20 to 25, as well as undergoing screening more frequently such as every one to two years as opposed to general population, which may be closer to five to 10 years.

There’s a lot we know about Lynch syndrome, but other syndromes that we can see related to hereditary colorectal cancer can include the polyposis syndromes, patients who have an increased number of colon polyps than what we might typically expect to see. It’s not uncommon for someone who undergoes a colonoscopy to be found to have one or two polyps, but we can see polyposis more so between 10 to 20 to even into the hundreds to thousands of colon polyps.

One of the more common hereditary polyposis syndromes is called familial adenomatous polyposis, or FAP for short. With these individuals, it can be variable. There’s a more attenuated form of FAP as well, but these are the individuals that we tend to see having even up to the hundreds and thousands of polyps. Unfortunately, if someone doesn’t know they have FAP or isn’t going for those routine colonoscopies, it can be nearly a 100% chance to develop colorectal cancer. It is incredibly important for those patients to be aware so they can sometimes undergo preventative surgery, removing the colon and sometimes the rectum preventatively to reduce that risk.

There are other polyposis syndromes such as MUTYH-associated polyposis (MAP) and the more recently described polymerase proofreading-associated polyposis caused by mutations in the POLE or POLD1 genes. We don’t always see that propensity for hundreds to thousands of polyps, but sometimes it can be up to about 100 polyps in someone’s lifetime. Again, it’s important for individuals to be aware so that they can be going for those earlier or more frequent colonoscopies. There are some other more moderate-risk genes that we know of as well—not quite as high-risk as Lynch syndrome and the polyposis genes, but certain genes for which it can be recommended that individuals undergo colonoscopies earlier, sometimes by age 40 and repeating every five years. We’re continuing to learn about more colorectal cancer–associated genes as time goes on. Our panels keep expanding, but it’s an interesting time to be in this area given that we’re learning about more genes as time goes on.

Ms. Skefos: Absolutely. One thing that always strikes me about the screening recommendations that we can make, especially for things like colorectal cancer, is that for many of these patients, if they follow these screenings, it can really prevent them from ever developing cancer in some cases. I think that’s just so remarkable.

Ms. Moskowitz: Yes. A great thing about colorectal cancer is there is that option for colonoscopy and earlier detection and prevention.

Ms. Skefos: As you were talking about those different syndromes, it was apparent that there are certain things that, ideally, would automatically cause someone to be referred to genetics—things like early-onset colorectal cancer or having 10 to 20 or more colon polyps. What are some things that a person can keep an eye out for, besides those things with their family history or their personal history, that might make it more likely that their colorectal cancer falls into a hereditary category?

Ms. Moskowitz: Some of the red flags when it comes to hereditary colorectal cancer, as you mentioned, Catherine, are earlier age of onset such as under age 50, and of course, developing multiple colon polyps. But as you said, it’s also important to consider not only the individual but the family history. For families with hereditary cancer, we do tend to see multiple generations such as grandparents, parents, and children being diagnosed with similar types of cancers. It may not just be colorectal cancer but thinking about similar groupings of cancer. As I mentioned with the Lynch syndrome, we’re also keeping an eye out for gynecological cancers such as uterine and ovarian and other GI cancers such as stomach. If we do see cancer in multiple generations, diagnosed sometimes at earlier ages of onset, those are all good reasons to be referred for genetic counseling and to consider someone’s risk for having a hereditary form of cancer.

Ms. Skefos: Let’s say, hypothetically, that someone does have a family history of colorectal cancer or those other cancers that you mentioned. Perhaps they don’t want to get germline testing done or their testing comes back negative. What types of recommendations may we still make about their colon cancer screening and what their risk might be?

Ms. Moskowitz: It’s a good point because we DO see families that are suggestive of hereditary colorectal cancer, and we go on to do the genetic testing, and it’s negative or there’s no one particular gene that helps to explain what might be contributing to the cancer that we’re seeing in the family. I like to explain that in between sporadic and hereditary cancer, there is that portion of familial colorectal cancer. Sometimes we see families that have two or three family members diagnosed with cancer, but when we go on to do the genetic testing, there’s no underlying genetic cause. It still is very important for these patients to be aware of that family history.

We know having a first-degree relative does increase someone’s risk to develop colorectal cancer. If someone has a parent or a sibling diagnosed with colon cancer, their risk may be increased. Anyone in the general population has about a 4% chance to develop colon cancer in their lifetime. Having that first-degree relative can increase someone’s risk by about twofold, so closer to about a 9% lifetime risk. That can be even higher for those that have more than one first-degree relative diagnosed with colorectal cancer or a first-degree relative diagnosed at a younger age of onset, such as under age 45.

The National Comprehensive Cancer Network (NCCN) does have guidelines to say that those family members who have a significant family history of a first-degree relative diagnosed with colon cancer are recommended to begin screening with colonoscopy at an earlier age. We are thankful that for everyone in the general population, that recommendation has been lowered to age 45, but for someone with a first-degree relative, it can be considered even earlier—starting at age 40 or 10 years prior to the earliest colorectal cancer in the family, whichever comes first—and to repeat colonoscopy every five years or per colonoscopy findings, such as if there are polyps. Then, of course, an individual’s gastroenterologist will make their recommendation in terms of frequency of colonoscopy screening.

Ms. Skefos: That makes sense. I think that really underscores the importance of people knowing as much as possible about their family history and communicating it with their doctors. That’s the key. It’s not too helpful to know the history if you’re not communicating it with your doctors so that they can make those appropriate screening recommendations.

Ms. Moskowitz: Absolutely. We hope that families are forthcoming with sharing that information because we know how important that is for individuals’ own personal cancer risk and screening recommendations.

Ms. Skefos: Right, it can be tricky. I know family communication is not always as open and clear as we might prefer, but asking the questions is a good place to start to get that information as much as possible. So, you said you’ve been in the cancer genetics world for about 11 years now. Is that right?

Ms. Moskowitz: Yes, exactly.

Ms. Skefos: How do you think the landscape of genetic testing for hereditary colorectal cancer has changed since you’ve been practicing? What differences have you seen or been part of?

Ms. Moskowitz: One thing, as I was alluding to earlier, is the availability of panel testing. I like to think that I graduated not that long ago, but it has been over a decade now. It is pretty amazing to see where the world of genetic testing has gone in that short period of time. Thinking back to when I was in training and in graduate school, often what we had available was single gene or single syndrome testing. If there was a concern for hereditary colorectal cancer, we might start with Lynch syndrome, and if that was negative, we’d go on to maybe thinking about adenomatous polyposis coli (APC) or MUTYH, associated with those more common polyposis syndromes. Now we have the availability of doing panel testing that can test for anywhere between 10 and 20, to up to 100 genes in one genetic test. It’s pretty amazing how far we’ve come with the availability of that panel testing.

Also thinking about the cost of testing, I think it can be somewhat of a misconception that genetic testing could be in the thousands of dollars, an expensive test, and that is what it was when I was in training 10-plus years ago. Now, just because of the increase in availability of genetic testing and the improvements of technology, the cost of genetic testing has really improved, with many laboratories offering a self-pay price of between $200 to $250. The labs also have very generous patient assistant programs for patients where there can be a financial hardship or they’re uninsured. I like to think that the cost of genetic testing is less of a barrier compared to what it was before, and hopefully that can motivate more individuals and families to undergo genetic testing.

Ms. Skefos: I think that, like you said, it is a common misconception and people are usually pleasantly surprised when they hear about the other options of the self-pay price and the patient assistance program and things like that. So, if a patient gets a positive genetic test result back and they have an active cancer diagnosis, is that something that might impact how their doctors best take care of them moving forward?

Ms. Moskowitz: Of course, we work very closely with our medical oncology and surgical oncology teams to help patients walk through those decision-making options, but I think we have seen an increase in things like targeted therapies, and in particular, immunotherapy. Patients with Lynch syndrome often tend to have tumors that demonstrate microsatellite instability, which can be a marker that it will respond very well to immunotherapy. That can be a really great option for some patients. It can also impact surgical decision making. As I mentioned, patients who have things like FAP that can significantly increase someone’s risk to develop cancer may choose to undergo a surgery like prophylactic colectomy that can reduce that risk. It certainly can have an impact on patients’ treatment and decision making for what’s best for them based on genetic findings, their cancer diagnoses, and patient preference as well.

Ms. Skefos: Absolutely. I feel like when you and I were doing our training, genetic testing for cancer patients was sort of an extra thing like, “Oh, this will maybe provide important information for your family or for you in the future.” Now it really is such an important part of the treatment process and that decision-making process. That young-onset colorectal cancer testing program that you mentioned is such a great thing to really incorporate that into part of their initial care when they’re diagnosed.

Ms. Moskowitz: Absolutely, and at MD Anderson, we’re very lucky to work so closely with the care teams. Often, providers are referring patients very early in their diagnoses on the front end to be able to have that genetic testing information to really get the full picture as to what’s going on for the patients, have a more targeted plan for treatment moving forward, and help patients with that important decision making.

Ms. Skefos: That is really wonderful. To sort of wrap us up today, are there any resources that you would recommend for patients with a hereditary colorectal cancer syndrome, for the providers that care for them, or maybe even for providers who aren’t as familiar with these hereditary syndromes?

Ms. Moskowitz: Thinking first on the patient side of things and for those who just in general have colorectal cancer, not even necessarily hereditary colorectal cancer, there are some really great organizations. Fight Colorectal Cancer and the Colorectal Cancer Alliance are two groups that are really great for advocacy and information. Then on the hereditary cancer side of things, there are groups as well. AliveAndKick’n is a really great group specific to Lynch syndrome that can be a great resource for support, advocacy, and information, and they have podcasts and webinars. Then Facing Our Risk of Cancer Empowered (FORCE) is a great resource as well. They break it down gene-by-gene and have resources that can be specific to one’s particular gene mutation and are really great for connecting with individuals who have similar forms of hereditary cancer.

From the provider side of things, there is a group that I’m very involved in, which is the Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC). They have really great resources for education like webinars and podcasts and an annual conference that this year is happening in November in Philadelphia. I would definitely encourage providers that are either new to the area and interested in learning more or who are well-versed in the area of hereditary colorectal cancer and want to become involved in that community. It’s a really great community of providers, and I would certainly encourage involvement in CGA for those who are interested.

Ms. Skefos: Wonderful. Thank you so much, Julie, for sharing your expertise with us today, and thank you so much for all that you do to care for your patients. I know that your role is such an important one in the Colorectal Cancer Center, so thank you for all that you do.

Ms. Moskowitz: Thanks so much, Catherine, and thanks again for having me.

About Ms. Skefos and Ms. Moskowitz

Catherine Skefos, MA, MS, CGC, is a Certified Genetic Counselor in the Clinical Cancer Genetics Program at the University of Texas, MD Anderson Cancer Center, where she provides cancer risk assessment and counseling to patients in the Endocrine Center. As a genetic counselor working with both pediatric and adult patients, she helps patients and family members understand and adapt to information about inherited cancer risk and genetic testing. Prior to becoming a genetic counselor, she received an MA in Medical Anthropology from the University of South Florida, where her research focused on health care access and health disparity. Catherine has a special interest in teaching, particularly educating health care providers about the utility of genetic counseling and testing with the goal of improving patient access to genetic services.

Julie Moskowitz, MS, is a Certified Genetic Counselor in the Gastrointestinal Center at the University of Texas MD Anderson Cancer Center. She received her graduate degree in Genetic Counseling from Long Island University in 2013. In her role at MD Anderson, Ms. Moskowitz provides genetic counseling services for patients who have gastrointestinal cancers, hereditary colorectal cancer syndromes, or a family history of these conditions, as well as their families.

For More Information

Fight Colorectal Cancer (2024). Available at:

Colorectal Cancer Alliance (2024). Available at:

AliveAndKick’n (2024). Available at:

FORCE: Fighting Hereditary Cancer Empowered (2024). Available at:

Collaborative Group of the Americans on Inherited Gastrointestinal Cancer (2024). Available at:

Transcript edited for clarity. Any views expressed above are the speakers’ own and do not necessarily reflect those of Oncology Data Advisor. 

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