Time Stamps

  • 03:13 Part 1: Who should be referred to genetic counseling?
  • 11:23 Part 2: How do we set up genetic counselors for success?
  • 22:38 Part 3: Genetic counseling myth busting!

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Show Notes

PART 1: Who should be referred for genetic testing?

  • 1+ family members have early deaths due to known or unknown medical conditions
  • 1+ family members have a history of malignancy with features suggestive of  a hereditary cancer:
    • Unusually early age of cancer onset (e.g., breast cancer <50 y/o)
    • Multiple primary cancers in one individual
    • Clustering of the same type of cancer in close relatives
    • Cancers occurring in multiple generations of a family
    • Occurrence of rare tumors (e.g., retinoblastoma)
  • After diagnosis with colorectal cancer (CRC):
    • All patients with CRC:
      • National Comprehensive Cancer Network (NCCN) recommends universal testing for:
        • Mismatch repair (MMR) deficiencies 
        • Microsatellite instabilities (MSI) 
      • If high MSI level OR deficient in one of the MMR proteins → genetic germline testing and counseling (and test for Lynch syndrome)
    • Patients diagnosed with CRC <50 y/o: 
      • Germline genetic testing and genetic counseling, regardless of whether the tumor is mismatch repair deficient
  • After diagnosis with a rare malignancy (regardless of age or family history) Examples:
    • Gastrointestinal cancers
      • Pancreatic 
      • Diffuse gastric 
    • Ovarian or 
    • Tumors with mismatch repair deficiencies (e.g., Lynch Syndrome)
    • Pheochromocytoma or adrenocortical carcinomas
    • Medullary thyroid cancer
  • 1+ family members have early onset health conditions 
    • Cardiovascular disease
    • Dementia 
    • Cancer, as noted above
  • Couples would like testing or more information about genetic conditions that occur with a higher frequency in their ethnic group (e.g., thalassemia)
  • Lynch Syndrome (LS)
    • Most common hereditary cancer syndrome (1 in 279).
      • Germline pathogenic variants
        1. MMR genes (MLH1, MSH2, MSH6, or PMS2)
        2. EPCAM gene
      • Autosomal dominant inheritance
    • What cancers does it cause?
      • Colorectal! 
        • Accounts for 3% of all CRC diagnoses in US
        • The incidence of CRC was 147,950 in 2020
        • Increasing genetic testing for LS in individuals with newly diagnosed CRC is a Healthy People 2030 goal.
      • Endometrial cancer! Significantly increases the risk
      • Stomach (moderate increase in risk) 
      • Small bowel (moderate increase in risk)
      • Ovaries(moderate increase in risk) 
      • Urinary tract (moderate increase in risk)
      • Pancreas/biliary tract (moderate increase in risk)
      • Brain (moderate increase in risk)
      • Skin (moderate increase in risk)
      • Prostate (moderate increase in risk)
  • Lynch Syndrome (LS) evaluation and counseling
    • Access the NCCN guidelines to review cancer risk assessment
      • Genetic counseling should be offered if an individual has an LS-related cancer and any of the following:
        • Diagnosed <50 y/o
        • Another lynch syndrome-related cancer regardless of age
        • 1 first-degree or second-degree relative with an lynch syndrome-related cancer diagnosed <50 y/o
        • 2+first-degree or second-degree relatives with an lynch syndrome-related cancer regardless of age
    • Amsterdam Criteria II
      • Diagnostic criteria to identify families at risk for LS 
        • ONLY meant to serve as a starting point
          • Easily remembered by the “3-2-1” pattern
            • 3 family members with a Lynch Syndrome-associated cancer 
            • 2 generations being affected
            • 1 cancer diagnosed in someone under the age of 50
          • Limited by low sensitivity (22-42%) 
          • Should not be used as the sole model for predicting risk for LS
    • Consider evaluation in patients WITHOUT a cancer diagnosis if 
      • 3+ relatives with an LS-associated cancer (cancer of the colorectum, endometrium, small bowel, ureter, or renal pelvis) and:
        • At least two successive generations should be affected;
        • At least one should be diagnosed before age 50;
        • One should be a first-degree relative to the other two;
        • Familial adenomatous polyposis should be excluded;
        • Tumors should be verified by pathological examination.
    • What is the future of treatment options for patients with LS?
      • Patients with LS-associated CRCs have better prognosis than their sporadic counterparts
        • BUT they are still at risk for recurrent or metastatic CRC and other types of LS-associated cancers.
      • Patients with LS have a positive response to immunotherapy 
        • Monoclonal antibodies to programmed death 1 or PD-1 (e.g., pembrolizumab)
          • But more research is needed!


PART 2: How should I manage expectations of genetic counseling for patients?

  • What is a genetic counselor?
    • Training: Board-certified by the American Board of Genetic Counseling (ABGC)
      • Master’s degree from an accredited program.
    • Role:  (1) Help people understand and adapt to the medical, psychologic, and familial implications of a genetic condition AND (2) answer questions like those below:
      • Do you have an increased risk for colorectal cancer because of your family health history?
      • What is the chance you have a Lynch syndrome gene mutation?
      • Could the colorectal, or other cancers that runs in your family be due to mutations in genes other than the Lynch syndrome genes?
      • If you have Lynch syndrome, or another hereditary cancer syndrome, how likely are you to get cancer?
      • What are the potential risks and limitations of genetic testing for Lynch syndrome?
    • Find a genetic counselor near you!
  • What should I tell my patient about genetic counseling?
    • Explain why a genetics referral is necessary
    • Explain who genetic counselors are
    • Explain what will happen:
      • A risk assessment to determine if and what testing is indicated
        • Based on the patient’s family history
  • Are germline and somatic testing the same thing?
    • NO! 
      • Germline testing
        • Looks at a person’s genes to find inherited mutations they were born with
        • Inherited from patient to child 
      • Somatic testing 
        • Evaluates for acquired mutations in the tumor itself
        • NOT inherited from parent to child 
  • What are the recommendations for surveillance screening if the diagnosis of LS is made?
    • Colon and rectum
    • Endometrium and ovary
      • Screening:
        • Consider endometrial biopsy every 1-2 years 
          • If unable to do prophylactic surgeries
        • Can consider transvaginal ultrasound and serum CA-125
          • Though there is no clear recommendation
      • Prevention:
      • Monitor for symptoms:: 
        • Abnormal vaginal or postmenopausal bleeding 
        • Pelvic or abdominal pain or pressure 
        • Bloating
        • Feeling full too quickly 
        • Trouble hearing 
        • Increased urinary frequency or urgency
    • Gastric and small bowel
      • Screening:
        • Upper endoscopy at time of colonoscopy with visualization of the duodenum 
          • Every 3-5 years starting at age 40 for those at higher risk of gastric or small bowel cancer
      • Prevention
        • Test for Helicobacter pylori and treat if present
    • Central Nervous System: 
      • Screening:
        • Annual physical/neurological exam starting at age 25-30
  • Should first-degree relatives receive testing too?
    • Yes
      • If a diagnosis of LS is made, then genetic testing should be offered to first-degree relatives as well.
  • What if genetic testing doesn’t lead to a diagnosis for my patients?
    • If your patient has a family history of CRC and testing is NEGATIVE for LS, then they may still be considered at increased risk. Reasons include: 
      • They may not have inherited the same mutation as another member OR 
      • The test just did not include the mutation!


PART 3: Debunking myths about genetic testing!

  • CostIsn’t genetic testing expensive?
    • Genetic testing is actually more affordable nowadays! 
      • Insurance may pay for testing ONCE 
        • Depending on the indication 
      • Discuss insurance coverage and potential cost with the genetic counselor!
  • Can my patient’s health insurance and employment be impacted by genetic testing?
    • NO! Because of the Genetic Information Nondiscrimination Act (GINA) of 2008
      • Prohibits discrimination on the basis of genetic information with respect to health insurance and employment. 
        • Health insurers should NOT determine an individual’s coverage based on their genetic information
  • Is genetic testing a one and done type process?
    • Testing once may NOT be enough!
      • This is due to variants of unknown significance!
        • Variants of unknown significance 
          • A mutation IS  found in one of the genes associated with LS, BUT it is unclear if this mutation causes cancer! 
      • Repeat genetic testing  (i.e., expanded Lynch testing, multi-gene panels, RNA analysis) can help better understand with variants of uncertain significance! 
      • Patients should continue to follow up with a genetic counselor, especially if they are able to find more about their family history. 
      • Providers  can help by trying to make sure that the patients has updated contact information in case additional results come back in the future!
    • Both can be helpful when it comes to determining treatment options and cancer risk assessment for the remainder of the family!
  • Should I order any genetics tests for the counselor before meeting my patient?
    • Maybe
      • Remember…Insurance may only pay for testing ONCE depending on the indication! 
        • Therefore, it is best of WAIT for the genetic counselor to ensure the appropriate tests are ordered. 
        • HOWEVER…there are certain hereditary diseases that providers should feel empowered to test and care for:
          • Hemochromatosis 
          • Alpha-1 antitrypsin deficiency 
        • When in doubt, consult your neighborhood geneticist!


Jessica Long: Genetic susceptibility to breast cancer due to BRCA, for example, was popularized with Angelina Jolie disclosing her status publicly. But we don’t have that same celebrity stature for hereditary gastrointestinal cancer syndromes. Not as many people have heard that Lynch syndrome affects 1 out of 279 individuals. And so the more awareness that we can bring to what some of these hereditary cancer conditions are, and there’s ways to be proactive to either catch cancer early or reduce the risk of it happening altogether when you identify these hereditary syndromes, that helps motivate people.

Dr. Marty Fried: This is Dr. Marty Fried, a Primary Care Addiction Medicine doc at THE Ohio State University Medical Center. The amazing genetics counselor you just heard dropping knowledge about Lynch Syndrome was Jess Long at the University of Pennsylvania.  And joining me today on her Core IM on-air debut is the wonderful Dr. Tina Phan. Tina, welcome to the Core IM family! 

Dr. Tina Phan: Thanks, Marty! Hi everyone, I am Dr. Tina Phan, a 4th year med-peds resident at the University of Tennessee Health Science Center.  So excited to be here, and yeah I couldn’t believe the stat that Jess mentioned.

Dr. Pete Stanich: Lynch syndrome is 1 out of 300 people. That’s like the same as inflammatory bowel disease. So think how many people with Crohn’s and ulcerative colitis you all see all the time. That’s how many people with Lynch syndrome you should be seeing. And so if you don’t have any in your patient panel, you’re missing them. Not that you don’t have them.

Dr. Marty Fried: That was Dr. Pete Stanich, GI doc here at THE Ohio State Medical Center and President of the Collaborative Group of the Americas Inherited Gastrointestinal Cancer. It’s funny because Lynch syndrome is all over standardized tests, certainly in med school and definitely Internal Medicine training. But I really haven’t thought about it that much in attending clinical practice, and it looks like I probably should be.  

Dr. Tina Phan: Yeah we all should be, Marty.  And we should probably be referring to genetic counselors more, especially if there is a family history that is starting to feel like there is something… genetics-y going on.  

Dr. Marty Fried: Definitely! Today, we’re going to cover three big topics.  First, who should we be referring to our genetics counseling friends?

Dr. Tina Phan: And in particular, we will make it more practical by using Lynch syndrome as an example, but will also give general recommendations about non-Lynch syndrome familial patterns that might raise your spide-y senses. 

Dr. Marty Fried: The second thing we’re going to talk about is how can we set up genetic counselors for success by setting expectations with our patients about what we’re going to do with that information once it is collected and any new information discovered.

Dr. Tina Phan: Also in this section we’ll talk about preparing our patients to understand who exactly are genetic counselors, and what’s going to happen in that visit and after.  

Dr. Marty Fried: And finally, in the last section, we’ll finish with some genetic counseling myth busting. 

Dr. Tina Phan: Yes! Things have changed so much recently about the genetic basis for many common illnesses, both cancer and non-cancer. So we’ll talk about considerations like cost, privacy, and follow-up to testing that is important to know as we discuss genetic screening with our patients.  

Dr. Marty Fried: Alright! Sounds like a plan. Let’s dig in! 

Beth Dudley: I think if you are part of the care team for a person with a cancer diagnosis who has not already been evaluated for genetics referral, some easy ones are from a GI perspective, any person with pancreatic adenocarcinoma should be offered genetic testing. Any person with colon cancer before the age of 50 diagnosed should be offered genetic testing. Any person who has a mismatch repair deficient tumor of any kind should be offered genetic testing.

Dr. Tina Phan: That was Beth Dudley, a genetic counselor who specializes in hereditary GI conditions at the University of Pittsburgh. We see so many people with cancer, and Beth gave us a short list of diagnoses that should prompt a referral to genetics. 

Dr. Marty Fried: Right, and that was pancreatic cancer and really any type of colorectal cancer. There’s a few more, but the main point that I took away from this is what I can do as a primary care doc when a patient gets diagnosed with cancer. You know, these are hard visits. You often don’t know what to say other than “I’m so sorry, gosh this really stinks.” But this gives us something to ask our patients about, “has anyone talked to you yet about a genetic counselor?”

Dr. Pete Stanich: The thing that always strikes me about genetic counselors is also the focus on the family. And I think that’s something that we do a bad job on as doctors because you’re trying to take care of the person in front of you. And I think that genetic counselors do a great job of saying, okay, this is helpful for the person, but also this is going to help your kids or your brothers or sisters. And even people with end stage cancer feel very empowered by that. And it’s really impressive to see, you know, you kind of talked about a pancreatic cancer patient where yes, maybe it opens up some treatment options but if they can get their kids tested and say they’re not at risk for this or that we can watch them for this, it’s very empowering. And that’s what I’ve always noticed is the biggest difference between the way genetic counselors talk to a person or look at, talk to the patient about it and what we’re used to doing.

Dr. Marty Fried: Alright, we should definitely be thinking about referring patients with active cancers to genetic counselor. What other groups should we be thinking about for genetic testing?

Jessica Long: So those who don’t have cancer themselves but are worried about is there a genetic syndrome in my family increasing the cancer risk. They’re most often referred by their primary care physician or their gynecologist, when there’s, in the case of hereditary cancer, genetic evaluation, multiple relatives affected relatives at a younger than average age of diagnosis like a breast or a gastrointestinal cancer under 50, or people who have a certain genetic ancestry where these cancer syndromes are more common. It’s worth a discussion about whether a referral to a genetic counselor can help learn more. 

Dr. Marty Fried: So as Jess points out there are some specific family risk factors to be thinking about. We should be listening for unusually early age of cancer onset in a family history, multiple primary cancers in a single individual, clustering of the same type of cancer in relatives, or cancers occurring in multiple generations.  

Dr. Tina Phan: And a good example of this is Lynch syndrome, which is an inherited predisposition that significantly increases the risk not only for colorectal cancer but also endometrial cancer and modestly increases risk for cancers of the stomach, small bowel, ovaries, urinary tract, and more.

Jessica Long: There was one woman that I worked with whose sister had endometrial cancer in her fifties. Overall, the family history was not particularly striking. But we know with Lynch syndrome for example, there are variations in the level of risk depending on which gene in particular has a pathogenic variant. And so, universally certain tumors like endometrial tumors or colorectal cancers are now screened for Lynch syndrome. And so even though the family history wasn’t striking, that’s how this family was  identified to have had Lynch syndrome. That woman that I saw tested positive for her sister’s familial mutation. She’s been undergoing more intensive colonoscopy surveillance. She’s had a hysterectomy to drastically lower her risk. And I’m now seeing her daughter who’s also at 50% risk, who’s making decisions about being in a different generation now. Does she wish to continue having a family? Does she wish to undergo hysterectomy? What are the pros and cons of that? So I think it really highlights that depending on the age at which you see a person, there’s different considerations for how is this going to affect their medical decisions, what types of risk reduction are they thinking about? And it really just highlights a family where that genetic condition wasn’t very obvious, it’s now affecting multiple generations and influencing the type of care that people get. But for that mother and that daughter, neither of them have been diagnosed with cancer. They have that opportunity to intervene. So I think, for me, even saying that now that gives me chills. That’s what we’re in this for, is that yeah, proactive ability that we have. 

Dr. Tina Phan: Sounds like Jess was able to screen this family early and hopefully prevent cancer with prophylactic surgery in the index patient’s sister and niece, just by making a Lynch diagnosis and carefully following their family history. 

Dr. Marty Fried: Yeah, and that really is incredible the gift that the first patient was able to provide for her family.  Let’s talk in more specifics on how knowing one’s risk of having Lynch Syndrome changes management. 

Dr. Pete Stanich: Lynch syndrome, the polyps turn into cancer very quickly. Sporadic adenoma takes 15 or 20 years to turn into cancer. In Lynch syndrome that’s three years or less. And so that’s why we recommend colonoscopy every one to two years because it can go from polyp to cancer very quickly. Even between yearly scopes, we know cancers can develop, and that’s not because we missed them. Some of them may be, but that’s also where you could have a very clear picture of the cecum or the rectum areas where there’s clear landmarks that can go from no polyp to cancer in a year, and that just doesn’t happen in average risk people. So as a GI Doc, part of why I love what I do, taking care of these people, colonoscopy and Lynch syndrome has a huge survival advantage. And as you guys know, it’s hard to prove a mortality benefit in what we do in medicine, but colonoscopy and Lynch syndrome, I would put it against anything we do to help people live longer.

Dr. Marty Fried: Yeah! I love interventions that actually work. So risk factors for Lynch Syndrome. What are the patterns that we should be looking for to start thinking about Lynch? 

Dr. Tina Phan: A helpful mnemonic for screening is the “3-2-1” pattern. 

Dr. Marty Fried: The what? 

Dr. Tina Phan: Yeah I learned about the 3-2-1 pattern in med school.  Its more formal name is the Amsterdam Criteria, which admittedly isn’t very sensitive. Most families with Lynch Syndrome won’t meet this criteria and this may only catch really high-risk families. But maybe think of this as more of a mnemonic: There should be 3 family members with a Lynch Syndrome-associated cancer, 2 generations being affected, and 1 cancer diagnosed in someone under the age of 50. These folks should definitely be sent to Jess and Beth’s shop.

Dr. Marty Fried: Wow love that and I totally have never heard of the 3-2-1 pattern for Lynch Syndrome. I kind of feel like this is most useful when taking that initial family history when you’re meeting that patient. Is this a family with bad luck, or might there be something lurking here… 

Dr. Tina Phan: Ok, to summarize. We can refer patients to genetic counseling if they haven’t already been referred to by other colleagues, especially anyone with pancreatic or colorectal cancer. More specifics on colorectal genetic eval in the show notes. Another indication for referral would be someone with a  family history of early-onset malignancies. An example of this would be Lynch Syndrome. It is the most common hereditary cancer syndromes- with an insanely under-appreciated prevalence, and it can lead to colorectal, pancreatic, endometrial, and even ovarian cancers, among others.

Dr. Tina Phan: So now that we have identified which patients to send to genetic counseling, let’s talk about how to prepare those folks for the consultation.  

Dr. Marty Fried: Yeah, so one way to think about this is to start with the basics. Who are genetic counselors? I get that they’ve probably done a few Punnett squares in their lifetime, but having an idea about their background might help our listeners appreciate how this speciality really fits into an evolving field of medical genetics. 

Dr. Judy Westman: So genetic counselor, it’s a two year professional master’s program. They have to have spent some time in a counseling function, before they’re actually accepted into a genetic counseling program. They get a lot of background in obviously the genetic disorders that are involved in the practice of genetic counseling, counseling techniques, things like what might the patient say that would trigger you to use advanced empathy skills, which we don’t get in medical school, but the counselors are counselors and they’re very attuned to the psychosocial aspects of what’s going on with a person and with their family structure. 

Dr. Tina Phan: That is Dr. Judy Westman from THE Ohio State University. 

Dr. Marty Fried: Thank you, thank you, Tina!

Dr. Tina Phan: Dr. Westman is board certified clinical geneticist and medical director of the OSU Genetic Counseling Training Program. Marty, one thing Dr. Westman said that really shocked me was how important the counseling part was in the evaluation, often even before testing is considered. 

Dr. Judy Westman: A genetic counselor will counsel first and work with the patient to decide is testing appropriate for that person. And that might come out differently than what the referring provider’s thoughts were on the matter, but it’s very patient-centric, at that point, and what will work for the patient. And not only that, but looking at the broader sense of your provider kind of was thinking of this, but now as we talk to you, this seems more appropriate to target the testing in a different fashion. So counseling comes first, then testing, is kind of the general approach.

Dr. Tina Phan: Looove it! I almost think of them as counseling geneticists as much as genetic counselors. It turns out that referring providers can really help genetic counselors by explaining not only a little bit about who they are being referred to, but why the patient is being referred. 

Beth Dudley: I think that if primary care providers can just give some explanation as to what their concern is, like why are you suggesting this referral? So is it because your mom was diagnosed with colon cancer before 50? Is it because your brother died from pancreatic cancer? And these things make it more likely that there could be a genetic predisposition in your family that increases your risk for cancer. Just a simple explanation so that they have a better understanding. And then I think a follow-up piece of information may just be you’ll meet with a genetic counselor. They’ll provide a risk assessment based on the information that you give them about your family history. They’ll talk to you about whether or not genetic testing is indicated. And our job is to give a patient the tools to make a decision about whether or not they want to have genetic testing. Coming to see us doesn’t mean that you have to have a genetic test. It may not even be offered once we get the full picture of your family history, but it’s just to give you the tools to make the decision that’s best for you. And I think if primary care providers can help explain that, that puts us way ahead.

Dr. Marty Fried: Oh, man this part is crucial! We’re not sending them to get tested, we are sending them to get evaluated to see if testing is indicated!  I can imagine a patient being super disappointed if we are hyping up genetic counselors as these gatekeepers of the genetic test when in fact, genetic counselors are making this huge calculation about is the test indicated, and does the test answer what we want it to answer, and does the test exist, and does it even make sense for the patient and their family?  

Dr. Tina Phan: Oh gosh! That sounds complicated. But let’s switch back to Lynch Syndrome for a second. One of the key points that all of our experts made was about thinking how this information would be used by patients.  So what does that anticipatory guidance sound like for folks who have a family history that may be consistent with Lynch Syndrome?  

Beth Dudley: So if someone’s diagnosed with Lynch syndrome who does not have cancer, there are really three main areas where their medical care may change.

Dr. Marty Fried: So first thing a Lynch Syndrome diagnosis would do is add additional cancer screening. We know about more c-scopes, but when do we start and what else is done from a surveillance perspective?

Beth Dudley: People with Lynch syndrome usually start having colonoscopies between the ages of 20 and 30, as opposed to 45 in the general population, and they may have screening that most people don’t have. So for example, people with Lynch syndrome are supposed to have upper endoscopies every several years.

Dr. Tina Phan: So I definitely knew that patients with Lynch Syndrome needed frequent colonoscopies, but EGDs, too? Oh man, I can only imagine how the patients are feeling when they first hear about these tests.

Dr. Marty Fried: Yeah, that can totally feel overwhelming. Alright, so first additional screening to find cancers. The second part is preventing cancers from occurring. 

Beth Dudley: There may also be medications that could reduce risk for cancer related to Lynch syndrome. 

Dr. Tina Phan: So one medication that may reduce the risk of cancer is aspirin. That is true, specifically in the Lynch syndrome population. Interestingly, there may also be benefits for birth control pills in reducing the risk for uterine and ovarian cancers.

Beth Dudley: And then the last prong of screening and prevention would be surgical prevention. 

Dr. Tina Phan: Yeah, so this is tough. Women with Lynch syndrome are actually encouraged to have their uterus and ovaries removed because we don’t have effective early detection for these cancers.

Dr. Marty Fried: Wow! Okay, so if you are diagnosed with Lynch Syndrome without any evidence of malignancy, our three main strategies to prevent that evil is, one, screening early and often, two, chemo-prevention with aspirin and maybe birth control, and, three surgical prevention since we aren’t good at early detection of cancer of the uterus or ovaries. 

Dr. Tina Phan: Exactly Marty, and something really cool that came up in our discussion was about Lynch syndrome-specific implications in treating cancers. Turns out there are specific immunotherapy regimens for patients with Lynch syndrome and even talk about a cancer vaccine for these folks!  Super early, but pretty sweet, nonetheless.

Dr. Pete Stanich: The thing that I always point out to my Lynch syndrome patients that unfortunately get cancer, but patients with Lynch syndrome matched up with patients without Lynch syndrome, even without immunotherapy, have better cancer outcomes. And so it is kind of a silver lining that I tell people if you have cancer, if you have Lynch syndrome, you’re going to be at increased risk of cancer, but thankfully, if that comes up, then you’re going to be very responsive to treatment and we’re going to do everything we can to watch you as close as possible where that doesn’t happen. 

Dr. Marty Fried: No doubt. Big fan of silver linings over here! Especially when that playbook is headlined by Bradley Cooper and J Lawrence. You picking up what I’m putting down, Tina? 

Dr. Tina Phan: Uh, I’m not sure I am, Marty! But that’s okay. Shreya told me this might get weird.  

Dr. Marty Fried: She knows me pretty well at this point. Alright, Tina, before we wrap up this section, was there anything that our discussants pointed out that PCPs should avoid ordering before sending our patients over to the genetic counselor’s shop? 

Beth Dudley: I think that some primary care providers do feel obligated to order genetic testing themselves if their patients ask them for it because they’re trying to provide best care. But if it’s not something that you’re familiar with, then sometimes that can lead to mistakes. For example, I saw a patient not long ago who requested genetic testing of their primary care provider because they had a family history of colon cancer and the primary care provider ordered testing for BRCA1 and BRCA2, which are not genes associated with an increased risk for colon cancer. So that test was not really helpful at all in defining risk for colon cancer. And then there may also be circumstances where a primary care provider does recognize what hereditary condition might be most likely. So for example, Lynch syndrome and order testing for that. But there are a total of 20 to 25 genes associated with an increased risk for colon cancer. And it’s very common practice now for people who have genetic testing to have panels that include all of those susceptibility genes. And so if we only have testing for Lynch syndrome, we’ve missed quite a bit of potential hereditary risk and we may have lost our opportunity to bill through insurance if they’ve already tested for the condition that can be billed. 

Dr. Marty Fried: Damn! I’m surprised, but maybe not surprised, to learn that most insurances will only pay for genetic testing ONCE for a specific indication and if that indication is their family history of breast cancer, in that situation you might get one chance at covered screening per lifetime. So, I for one will be waiting for some guidance from a genetic counselor before potentially blowing my patient’s one chance at getting an expensive test covered. 

Dr. Tina Phan: For sure, Marty! There are situations where we can feel comfortable ordering genetic testing and the good news is that cost is dropping. Spoiler alert, more to come about this in the next section!

Dr. Pete Stanich: What often happens is people will come from their oncologist and be like, oh, I had genetic testing, but what they had was somatic tumor testing. That’s just looking for treatment targets. 

Dr. Marty Fried: And just to clarify when Dr. Stanich says “somatic testing” he is referring to looking at tumor cells and all the acquired mutations that have developed as it goes from a normal cell to a cancer cell. This is different from germline testing which is looking at someone’s inherited genes. 

Dr. Pete Stanich: And so that’s something we’re frequently kind of clarifying that no, you haven’t had germline genetic testing look looking for inherited causes. And sometimes those can go together, but germline testing often finds things that somatic testing doesn’t find, and we have to confirm that it is germline.

Dr. Tina Phan: Wow, I’m learning so much! Okay, let me try to recap this section. What I’m taking away is if I am thinking about referring someone for genetic counseling, I can set them up for success by setting expectations that the genetic counselors will do a thorough evaluation for you, looking at your family history and other risk factors to see if testing is even appropriate. And since at the moment, insurance will only pay for genetic testing once for specific indications, it’s probably better to leave it to the genetic counselors or someone experienced in med onc or surg onc to order the appropriate susceptibility genes. 

Dr. Marty Fried: Okay, we’re going to finish this pod with a healthy serving of myth busting.  We have 4 myths that we will clear the air on. We already talked about the dropping cost of testing. Let’s start there. 

Dr. Tina Phan: Alright, I guess we should address the elephant in the room. What am I looking at when it comes to costs for genetic testing?

Jessica Long: So there was a point in time when I first started practicing clinically in 2009, it was about a thousand dollars per gene cost to insurance. More insurances are now covering the cost of testing. And many commercial genetics labs notify patients if their cost is over $100 or even offer discounted self-pay rates of $249 or less. 

Dr. Marty Fried: Okay, love that we’re no longer charging patients thousands of dollars per gene, but it sort of would be nice to give patients a little guidance when it comes to what this expense will be for them. 

Beth Dudley: I don’t think that it is a referring provider’s job to understand the nuances of that, but I think it’s potentially important to be able to tell a patient that part of the appointment is a discussion of coverage and potential cost for testing if it’s deemed appropriate with the risk assessment. And so just kind of putting someones mind at ease, that is on our radar and we’re very familiar with how these things work and can explain to them what the process is like. 

Dr. Tina Phan: Whew. I’m relieved! Definitely not an insurance expert over here. So basically, I can let my patients know that genetic testing is certainly cheaper nowadays than what it used to be, and cost will be discussed upfront after it’s determined if genetic testing is indicated.

Dr. Marty Fried: Good deal. Alright, so what about privacy? For our second myth, let’s talk about GINA.

Dr. Tina Phan: Tina! 

Dr. Marty Fried: No, GINA!

Dr. Tina Phan: Are you messing with me because I’m new here? 

Dr. Marty Fried: No, no! GINA! It’s a real thing.  It’s the Genetic Information Nondiscrimination Act. It’s a federal law from 2008 when this technology was really taking off and there was this concern that if an insurance company learns about someone’s increased risk for an illness they might cancel that person’s coverage!  

Jessica Long: The Genetic Information Non-discrimination Act or gina states that health insurers cannot drop someone from coverage, deny health insurance coverage, or base premiums on genetic testing results or family history. And that also includes employers with more than 15 employees cannot hire fire or base salary on genetic testing or family history information. And so that’s great for some people, knowing those protections are in place, remove that fear of not being able to get health insurance. 

Dr. Tina Phan: Good deal. But does GINA apply to everything? Even life insurance? 

Dr. Judy Westman: Two areas that GINA does not help with are disability insurance and life insurance. If you have a genetic condition, you are guaranteed the ability to get health insurance. That’s the good part of GINA. Life insurance and disability insurance are felt to be benefits and investments. More than something that every person should have. And so genetic information can be used to deny somebody disability insurance or to deny somebody life insurance. Now, in reality, I have never met a single person denied life insurance because of a genetic susceptibility. They don’t get it at top rate, but they’re not denied as long as they’re willing to pay the extra money. 

Dr. Tina Phan: I can’t imagine being diagnosed with something so life-changing and then have to worry about how I’m going to pay for all these medical bills. So glad we cleared that up. Let’s move on to our third topic. What’s next?

Dr. Marty Fried: Okay, so it turns out genetic testing isn’t a one-and-done situation. Sometimes, we’ll get an indeterminate result like a variant of unknown significance. Now, most of these are going to be reclassified as benign. But it’s kind of a big deal when the variant is reclassified into a pathogenic category, because at that point it’s on us, or, well, whoever orders the genetic test, to reach out to the patient or family. 

Dr. Judy Westman: I had one patient who came in late in life because they had metastatic cancer, had the genetic testing done, it came back as a variant of uncertain significance. The patient passed within six weeks of getting the test result variant of uncertain significance. 18 months later it was reclassified as pathogenic and we knew that that person had children and we tried to contact the family because it was meaningful for them to at least consciously reject whether they wanted to know that or not. And we were unable to get the family to communicate with us. We even did a genealogy search hunting for people in that region with that name, trying to track them down and could not get the family to want to have the new information. So we tried and we documented it, Anything we could do to try and get the information to the people.

Dr. Tina Phan: Yikes. So we as providers should try to emphasize to our patients and their families of that possibility of reclassification in a variant of unknown significance since it could even occur years later. Alright Marty, we’ve got one last myth to tackle. 

Dr. Marty Fried: Yeah something else that came up over and over again in our discussions with the various experts was how limited a resource genetic counseling time is. In fact, one of Dr. Westman’s jobs is to play lead blocker for the referrals that come into her shop, because even at an institution with a large genetic counselor training program, there just isn’t enough bandwidth for the genetic counselors to see all those referrals. 

Dr. Judy Westman: I triage every referral that comes in and then decide should cancer genetics see this? Should ophthalmology genetics see this? Should endocrine genetics see this patient? Frankly, there are so few genetics professionals that we have to be cautious what we accept into our patient list. 

Dr. Tina Phan: But how can we help them out? Well, we can certainly start the workup for certain inherited conditions that are NOT related to  cancer conditions. Things like Ehlers Danlos or any hypermobility diagnosis, hereditary hemochromatosis and HFE testing, if there is any concern for Marfan’s syndrome. You can always getting the echo to screen if there is aortic root dilatation. And lastly, alpha-1-antitrypsin deficieny.

Dr. Marty Fried: Yeah! For sure. I mea, I can’t say I’ve ever seen an alpha-1-antitrypsin, but I know for sure our buddies in pulm are thinking about this all the time! The bottom line is that we can work with our local genetic counseling clinic to see what their referral process is like ,and what their limitations are when it comes to what they can and cannot work up. For example, OSU has a genetic counseling e-consult program, which is super sweet to get an official recommendation without having your patient wait months to get into see them. Tina, give us our last recap of the evening. 

Dr. Tina Phan: Happy to! Genetic testing isn’t as expensive as it was in the past, but you should definitely have a discussion with your genetic counselor before any testing is done. Even if testing has been done, it’s important that your patients have updated contact information for themselves and their families just in case their genetic testing results become reclassified down the line. Lastly, although there are many layers of complexity to genetic disorders, general internists can feel empowered to start the workup of more common hereditary disorders like hereditary hemochromatosis and alpha-1-antitrypsin deficiency.  

Dr. Marty Fried: Alright! That’s a wrap for today’s episode. If you found this episode helpful, please share with your team and colleagues and give it a rating on Apple podcasts or whatever podcast app you use! If you want to check out more teaching from these interviews, check out our youtube channel. 

Dr. Tina Phan: If you want to add any of your own tips or share challenges, tweet us and leave a comment on our website, instagram. or facebook page. You can even email us at hello@coreimpodcast.com.  

Dr. Marty Fried: And thank you to our peer reviewers Rachel Perelman and Pooja Dharwadkar. Huge thanks to Daksh Bhatia for the audio editing and Dr. Salim Naajar for the accompanying graphics. Opinions expressed are our own and do not represent the opinions of any affiliated institution. Alright, that’s it! See you later!

Dr. Tina Phan: Bye! 



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