Genetic testing can help estimate a person’s chance of developing cancer in their lifetime based on changes, or mutations, in their genetic code. Genetic counselors are specially trained medical professionals who can assess and advise people on their individual risk of cancer based on their family’s history of cancer and the results of genetic testing. In this podcast, Tiffani DeMarco explains the role of a genetic counselor and discusses how genetic testing has changed over time.
ASCO: You’re listening to a podcast from Cancer.Net. This cancer information website is produced by the American Society of Clinical Oncology, known as ASCO, the world’s leading professional organization for doctors who care for people with cancer.
Genetic testing can help estimate a person’s chance of developing cancer in their lifetime based on changes, or mutations, in their genetic code. Genetic counselors are specially trained medical professionals who can assess and advise people on their individual risk of cancer based on their family’s history of cancer and the results of genetic testing.
In this podcast, Tiffani DeMarco explains the role of a genetic counselor and discusses how genetic testing has changed over time. Tiffani DeMarco is a certified genetic counselor and co-manager of the Cancer Genetics Program at the Inova Translational Medicine Institute. ASCO would like to thank Ms. DeMarco for discussing this topic.
Tiffani DeMarco: Hello. This is Tiffani DeMarco, certified genetic counselor and co-manager of the Cancer Genetics Program at Inova Fairfax Hospital in Fairfax, Virginia. Today, during this podcast, we will be discussing genetic counseling for hereditary cancer risk: past, present, and future. A good place to start is really what are genetic counselors? And genetic counselors are specialized healthcare professionals. They have expertise specifically in assessing a person's risk for cancer, based on their personal and their family history. Genetic counselors have master's degrees from 2 to 3-year accredited programs, they passed a specialized board exam, and they are often licensed in the state where they practice. For those genetic counselors that don't currently have licensure in the state where they practice, that is coming very soon.
So what happens during the process of genetic counseling for hereditary cancer risk? This is typically an in-person session with a genetic counselor. So genetic counselors meet with patients face to face. They talk about their personal history of cancer, their family history of cancer, and they use that information to decide whether genetic testing may be useful.
There are certain features of a patient's personal history of cancer or family history that may be red flags or may be elements that make us more concerned about the possibility of hereditary cancer risk or that cancer might be running in a family.
So those certain features of a person's personal history of cancer may be a cancer diagnosis that occurs at an early age or before the age of 50. So breast cancer in a young woman before 50 or colon cancer in an individual, again, before the age of 50. If an individual has multiple primary cancers, so such as breast and ovarian cancer in a woman or a male with multiple cases of colon cancer, family history may be suggested if it includes multiple affected family members over several generations.
So for example, in a family history, we may be more concerned if an individual, during a genetic counseling session, tells us that their mother had breast cancer, their maternal aunts have breast cancer, or again, if they have close relatives with the same or related cancers. So again, family history of breast and ovarian cancer in more than one generation. If an individual or their family members have rare kinds if cancers such as male breast cancer, ovarian cancer, or pancreatic cancer, those can be other red flags that, again, cancer might be running in the family. So again, a genetic counselor would use that information to provide a personalized risk assessment for a patient and to determine whether a genetic testing may indeed be useful.
There are several options for genetic testing that are currently available. Genetic testing is typically performed for patients using either a blood or a saliva sample. The accuracy for either of those two sample types is the same and the turnaround time is the same, as well.
In the past, we used to think about genetic testing as being quite limited to maybe a specific gene or specific genes. For example, individuals may indeed be familiar with genetic testing for the breast cancer genes known as BRCA1 and BRCA2 or the breast cancer one and the breast cancer two gene. And these genes still remain very important.
Individuals may also be familiar with genes, for example, for colon cancer that may run in families. And there are genes for a syndrome known as Lynch syndrome. And there are 5 genes that we test for for that particular syndrome. However, at the current time, many more genes have been discovered that may contribute to hereditary cancer risk. And recent technology allows us to test for all of those genes at one particular time.
We use a technology called next generation technology that, again, allows a laboratory to look at several genes at one time that may be associated with hereditary cancer risk. And this is often the first recommendation for women or men who have not previously undergone genetic testing, or it may be additional testing that's recommended for individuals who might have had testing in the past, for example, for BRCA1 or BRCA2, or perhaps for Lynch syndrome. And if those genetic test results were negative or inconclusive, they may come back to the genetics table to meet with a genetic counselor and to talk about additional testing via a multi-gene panel.
So multi-gene panels can be performed at several different laboratories that are specialized genetics laboratories to perform this kind of genetic test. These panels, again, consist of multiple genes that are associated often with a specific type of cancer such as multiple genes associated with breast cancer. So a multi-gene panel consists of genes that we often put into 3 different kinds of categories. So there may be a high-risk category of genes, so those include BRCA1 and BRCA2 with a very high risk of developing cancer or developing another kind of related cancer.
The second category of genes that's often on a multi-gene panel is a moderate-risk gene or genes. And these genes often do not increase the risk as much as the high-risk genes for certain cancers such as breast cancer or colon cancer, but they often increase the risk to a moderate degree where elevated surveillance may still be recommended. And then there are genes that are more newly described genes.
And these genes are those that are just that, ones that we have just more newly discovered, that we know are associated with cancer risk, but the exact degree of cancer risk, we may not know. And research is evolving to provide us with more information about exactly how much those genes increase risk. If an individual has a genetic change in one of those newly described genes, we may use more of their medical history and their family history to guide our recommendations for screening and prevention as opposed to the gene itself.
So genetic counselors often also talk about the recommendations for medical management with patients. And this includes elevated surveillance or prevention options. Also, genetic counseling and genetic testing have become much more integrated into patients' medical care. So for example, if a woman is diagnosed with breast cancer at an early age as we discussed, so if she has a breast cancer that occurs before the age of 50, it's often a very integral part of her medical management process to be referred to a genetic counselor to talk about her history of cancer and whether she has any family history of cancer.
So those patients may be offered genetic testing, and they may use that genetic testing, for example, to make decisions about their medical management. In particular, if woman with a new diagnosis of breast cancer are candidates to undergo breast-conserving therapy, so to just have the tumor removed, if they learned that they had a genetic mutation in a high-risk gene such as BRCA1 or BRCA2, there are some women that may opt to undergo more extensive surgery, so such as having that breast where the cancer is located removed or having both breasts removed based on the results from their genetic testing.
So genetic counselors will often talk through with a patient how the results from genetic testing will affect their medical management. So would it impact screening? So for example, if an individual learned that they were at high risk for developing colon cancer or developing a second colon cancer, would they think about undergoing colonoscopy screening on a yearly basis, which is often a recommendation? So in the general population, individuals may undergo colonoscopy every 5 to 10 years. But if an individual has a genetic mutation, it's often recommended that they undergo that testing much more frequently, often every one to two years.
So genetic counselors, during the genetic counseling process, talk through medical history and family history, as we discussed. They also talk about the options for genetic testing, which again, have changed quite exponentially in that there are many more options for genetic testing that are available. And genetic counselors will also talk through medical management with patients, including elevated screening and whether prevention options including surgery may be recommended.
Also, we make sure that we have close relationships with many of our patients' providers. Many patients that are referred for genetic counseling are referred from their physicians. So if a patient has a new diagnosis of cancer, they may be referred from their breast surgeon or they may be referred from their medical oncologist, a member of their team that's helping to treat their cancer.
If a patient has not had cancer, they may be referred from their primary care physician or for some women, they may be referred from their gynecologist who is assessing their family history, who is observing some of these red flags in their personal or their family history, and is then referring them onto a genetic counselor. So genetic counselors are a very integral part of a patient's medical management team, and we often work very closely with individuals' physicians to make sure that we are referring individuals back to those providers so that they can get the appropriate screening and follow up as is needed.
So a big question that often is put forth to genetic counselors during the genetic counseling appointment is whether genetic testing is covered by insurance. And most insurance companies do cover genetic testing for inherited cancer risk, in particular when it's indicated based on personal history and/or family history. And there are also national guidelines for when genetic counseling and/or testing should be covered. So again, typically this is a process that is covered by insurance for most individuals.
There also is a law called the GINA law or the Genetic Information Nondiscrimination Act, and that particular law protects patients from being discriminated against with respect to their health insurance. So their health insurance cannot drop them based on the results of genetic testing. The GINA law also currently prohibits employers from discriminating against patients based on the results of genetic testing. So we do feel that patients should be confident in terms of using their insurance to cover the cost of their genetic testing.
However, sometimes for some patients, there may be an out-of-pocket cost. Many of the labs that perform genetic testing will often have a preauthorization process or will be involved in authorizing the genetic testing. But this is something that can be reviewed further with a genetic counselor during the process of genetic counseling.
So we've talked about the process of genetic counseling and what is discussed with a patient during that time, that this is typically a face-to-face appointment where the patient's personal history, family history, and medical management options are reviewed along with the options for genetic testing.
Another very important part of the genetic counseling process is the discussion of how genetic testing can impact not only the patient but also their family members. So for the majority of genes that are associated with hereditary cancer that can run in families, other individuals may indeed be at risk for inheriting a genetic mutation, and that risk may be up to 50%. So for close family members, such as a patient's siblings or their children, there may be up to a 50% chance that they can also inherit the genetic change if one is indeed identified in that patient.
So we talk about what those implications are for family members, whether this is something that the patient feels comfortable, hopefully, discussing and disseminating with their family members, and we talk about how important it is to inform family members that the results from genetic testing certainly can have implications not only for them but also for their close family members. And upon having that discussion, we often take into account what those implications will be and how the patient will be able to discuss that information with their relatives.
Most patients are very willing to discuss that information with their family members and to make them aware of how this information may impact them. This often leads to an ongoing relationship with patients and with their family members, which is a very nice part of the genetic counseling process. That is, it allows the genetic counselor to be often integrated into the family as she may see more of a patient's family, offer them genetic testing, and discuss the implications of those genetic test results with other family members.
So we hope that individuals will discuss their family history with their family members to gather the information about relatives that have been affected with cancer and to document that information so that it is available to themselves and to the next generation. Patients should discuss their family history with their physicians and determine whether a referral to a genetic counselor may indeed be necessary and whether they may benefit from discussing their personal history and their family history in more detail with a genetic counselor and reviewing the options for genetic testing that are available.
It's also very important for patients to understand that the process of genetic testing will change. So we've talked about the fact that patients that have had prior genetic testing, such as for BRCA1 and BRCA2 are now returning to see a genetic counselor to talk about whether additional genetic testing is recommended. We do know that more genes will be identified for hereditary cancer risk, and this will have more of an impact on patients now and in the future. We also know that this process of genetic testing and the process of genetic counseling is changing. So we encourage patients to keep in touch with their genetic counselor and to talk about what has become available in terms of changes to the genetic testing process.
Also, as we look to the future of genetic testing, we know now that for some kinds of cancer, such as for ovarian cancer that may be more advanced—so in patients that might have ovarian cancer, where they have not responded as well as we would have liked to the typical treatments that are available—genetic testing for BRCA1 and BRCA2, if an individual is found to have a genetic mutation in one of those genes, may guide their treatment moving forward. So it may provide information that helps their physician decide that there are particular treatments that they may benefit from.
So this is something that is newer with respect to how genetic testing is being used for treatment for patients, and this is something that will continue to evolve. So now, it is often treatment that is something that is used when individuals, again, have a more advanced kind of cancer. And hopefully, this kind of treatment, based on the results for genetic testing, will become something that is much more mainstream or is used to treat patients when they are more newly diagnosed with their cancer. But again, this is something that we hope to see in the future.
We hope that you have enjoyed this podcast regarding genetic counseling and testing past, present, and future. For additional information about this topic, individuals can visit the ASCO website. They're also encouraged to visit the National Society of Genetic Counseling website, which provides more information regarding genetic counseling and genetic testing for hereditary cancer risk. Thank you.
ASCO: Thank you, Ms. DeMarco. Learn more about the genetics of cancer and hereditary cancer risk at www.cancer.net/genetics. And for more expert interviews and stories from people living with cancer, visit the Cancer.Net Blog at www.cancer.net/blog.
Cancer.Net is supported by the Conquer Cancer Foundation, which is working to create a world free from the fear of cancer by funding breakthrough research, sharing knowledge with physicians and patients worldwide, and supporting initiatives to ensure that all people have access to high-quality cancer care. Thank you for listening to this Cancer.Net Podcast.