I hope, can everybody see my screen okay? Yes, thank you. Perfect. All right, so I just wanted to define the role of a genetic counselor as described by the National Society of Genetic Counselors. So genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. We focus on the interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. We practice a big educational component with in terms of inheritance of cancer syndromes, genetic testing, management moving forward, and we really want to focus on prevention, available resources, and also research. We go over some of the risks, benefits, and limitations of genetic testing and really take the time to make sure that the patients go through a proper informed consent process and really know what they're getting into when they're signing up for genetic testing because it is some pretty big information for not only the patient but also their family members as well. So I'm sure you guys know that although 100% of cancers are genetic, only about 5-10% are hereditary. Sometimes we'll see a familial cluster when we just can't quite determine whether it's a genetic component that we haven't been able to discover yet or is it environmental factors. But it's actually only a really small percentage of these cancers are actually due to something that would have been passed through the family. So we can identify hereditary cancer syndromes through germline genetic testing. And there are a number of different syndromes and we identify these syndromes using either a blood test or a saliva sample where we analyze the DNA specifically in the genes that we've identified to be associated with cancer and protecting our bodies from cancer and look to see are there any deleterious or pathogenic mutations that are potentially going to disrupt the gene's function. Another way that's kind of become a little bit more prevalent in our field is now as we do more somatic tumor testing, we actually are picking up on possible germline mutations. So if someone's ordering a specific tumor test, some of the times it will determine that somatically there's a BRCA mutation which can be an indicator of a germline BRCA mutation as well, in which case we'd want to reflex to a germline test to confirm. So when I sit down and meet with a patient, I kind of, well, I dive deeply and get a very comprehensive medical history as well as a family history. And some of the things that can be an indication for pursuing this genetic testing would be cancers that are diagnosed at young ages. When we say young age for cancers 15 and under, specifically for breast cancer, we would err on the side of 45 and under. Cancers in multiple generations, looking for that pattern of potentially something being passed through the family. Cancers that go together, which would be consistent with the different hereditary cancer syndromes such as colon and endometrial cancer, we're thinking Lynch syndrome. Breast, ovarian and prostate, as well as pancreatic cancer, we're thinking HBOC. If there are three or more individuals in the family on the same side of the family diagnosed with a cancer, that could be an indicator. Triple negative breast cancer diagnosed at the age of 60 or younger. Metastatic prostate cancer. Pancreatic cancer at any age. Adenomatous polyps. Ethnicity can play an important role because sometimes certain populations can have founder mutations, such as the Ashkenazi Jewish population has three different founder mutations in BRCA and one in a gene called CHECK2. And also rare types of cancer, so ovarian cancer, male breast cancer, et cetera. So I always really try to stress whenever I'm talking to physicians that your bread and butter is gonna be gathering not only a lot of information about your patient, but also their family history because that's really going to allow us to lead down the path of what are the other risks that we need to be concerned about. So we wanna identify those patterns that I had mentioned and that way we can determine who's eligible for testing, identify who's at high risk for a hereditary cancer syndrome and that way we can even determine who might be eligible for some additional screening, even if they don't pursue genetic testing. So I'll kind of dive a little bit deeper into hereditary breast and ovarian cancer syndrome. That's where our BRCA1 and BRCA2 genes fall under. It's passed on in an autosomal dominant inheritance pattern so that way if we identify a carrier, their offspring, their siblings, their parents, each have a 50% chance of carrying that same mutation. So BRCA1 and BRCA2 fall on the chromosome 17 and 13 respectively, they're tumor suppressor genes that are transcribing proteins that are supposed to be repairing damaged DNA and stabilizing the genetic material. However, when there's a mutation, it's not able to do its job and therefore we're seeing increased risk for cancer. Specifically those cancer risks, for breast cancer in particular, the risks are very high and it's a pretty wide range. For breast cancer, an individual can have anywhere between a 56 to 87% lifetime risk to develop breast cancer and then after an initial diagnosis, they would be at risk for a second primary which would be anywhere between 26 to 60%. The risk for male breast cancer is 1.2% to 6.8%. Ovarian cancer has a bit of a wide range as well depending on some of the patient's individual factors and which gene in particular it is, but that risk ranges from 16 and a half to 63%. The prostate cancer risk can range from 8.6 to 20%. Pancreatic cancer is about 1 to 7% increased risk and the risk for melanoma, we focus more specifically on with BRCA2 and that's really just an increased risk. They don't really quote specific risk percentages. BRCA1 in particular is more so associated with triple negative breast cancers. So the reason that we investigate whether or not someone's a BRCA carrier is really to make some of the big decisions and create a personalized cancer surveillance and management plan. So for women who are BRCA positive, we wanna start them off at age 18 with breast awareness, making them familiar with doing their own breast exams and what their own tissue is feeling like. Then we would recommend a clinical breast exam every six to 12 months starting at age 25. Starting also at age 25 to 29, it's a little bit flexible. We would recommend an annual breast MRI. And then starting at age 30, we'd recommend an annual mammogram starting at the age of 30 through the age of 75. And then after the age of 75, evaluate specifically based on that person. When someone's put on a high risk breast cancer screening plan, I actually recommend that all of these things are combined in such a way that they can actually be screened every three months. So mammogram, clinical breast exam, MRI, another clinical breast exam. In terms of screening for ovarian cancer, at this point, the patients can consider transvaginal ultrasounds combined with a serum CA-125, which would start at the age of 30 to 35. But the research is just not really supporting that this is going to truly catch something in an early enough stage to be meaningful. So therefore, we might wanna discuss the option of risk-reducing bilateral salpingo oophorectomy between the ages of 35 and 40. In terms of breast cancer risks, because that risk is so high, we also recommend discussing the option of risk-reducing bilateral mastectomy. When someone's a BRCA1 carrier, they can also consider a total abdominal hysterectomy if they are pursuing the oophorectomy because there is a small associated risk of serous endometrial cancer in BRCA1 carriers. The cancer risk for men, not as high, but still prevalent. So we wanna make sure that they're getting screened as well. We wanna make sure that men are doing self-exams on their self and getting educated in the proper way to do that, starting at age 35. We wanna make sure also at that time they're starting clinical breast exams, hopefully by a breast specialist, if not their primary doctor. And have annual prostate cancer screening starting at age 45. We really stress that specifically because the risk is higher for BRCA2 carriers. We also would wanna make sure that they're having their prostate-specific antigen screening combined with the digital rectal exam screening for that risk. So we also just in general wanna educate them about the signs and symptoms of cancers. For both men and women, we recommend a full-body dermatologic exam as well as an eye exam screening for melanoma. And recently, the National Comprehensive Cancer Network has actually put out recommendations for pancreatic cancer screening. That's within the past five or six months, I would say, before we didn't have enough evidence to really make any type of recommendation. But if we do find that someone's a BRCA carrier carrying another hereditary cancer syndrome in combination with having an affected first or second degree relative, they can consider a contrast-enhanced MRI or an MRCP. And that can be in combination or just isolated from an endoscopic ultrasound. With genetic testing, there's actually three types of results that we could get just to keep things complicated. So we could get a positive result, meaning that we have identified that that person is carrying a hereditary cancer syndrome in which case we would discuss, or I would discuss in particular with the patient, what cancers are they at risk for? What screening and surveillance options are available to them to try to detect any changes in an early enough stage? Are there risk-reducing surgeries or interventions that we should pursue? And who else in the family might be at risk to carry these same changes? And we can identify them and offer them genetic counseling and genetic testing to assess what their risks might be. The testing most often comes back negative just because most cancers, again, are sporadic. But we do try to explain that there's a difference between a true negative versus an uninformative negative. The uninformative negative is most prevalent for someone who's doing testing because they've never had cancer but have a family history. And then we would try to recommend testing for someone who has had cancer or whoever is most closely related to the affected individuals. And then the testing could come back with a variant of uncertain significance. We shorten it to VUS or VOUS, which we wouldn't typically act upon. It just means that we're finding a change within their genetic information that at this point our research is just not able to classify what that truly means for the patient. So we would just manage their cancer screening plan based on their family history and we don't pursue testing for family members. The larger the panel we do, I know one of the doctors in here had mentioned we could do just bracket testing or more of a panel test. The more genes we look at, the higher the chance of finding these VUSs just because our research is a little slower than our technology, unfortunately. Does anyone have any questions for me? I tried to make it quick.

genetic counseling

genetic testing

hereditary cancer syndromes

BRCA1

BRCA2 mutations