Myriad Live episodes are recordings of an open-forum webinar hosted by Dr. Thomas Slavin. The opinions and views expressed in this recording do not necessarily represent those of Myriad Genetics or its affiliates. To participate in a future recording, visit https://myriad.com/live/ for a list of dates, times, and subjects.
0:00:13.8 Dr. Thomas Slavin: Welcome! This episode of Inside the GENOME is a recent recording of Myriad Oncology Live, a webinar hosted by me, Dr. Thomas Slavin, Chief Medical Officer for Myriad Genetics. The opinions and views expressed in this recording do not necessarily represent those of Myriad Genetics or its affiliates. To participate in a future recording, please visit Myriad Live for a list of dates, times, and subjects. I look forward to exploring the world of genetics with you all.
0:00:41.4 DS: All right. Hello everyone. Welcome to Myriad Live. We have a star-studded cast today. I think half the people on the call are gonna be participants. I'm just kidding. [chuckle] But hopefully, people like the holiday jazz music that was requested, a special request by Edie Smith, who is one of our guests today. So thanks for coming on. Edie is a medical science liaison at Myriad. And a little housekeeping to start before I introduce everyone and we get into the discussion. But this will be the last Myriad Live of the year. Yes, the last Myriad Live of the year. So a great year. I think we finished on the podcast where we've been posting these around 6500 downloads. So people are liking the content. And so it's exciting. If there's anything you think we can do better or have any feedback, we actually have a new little feedback link that I'll show here in a second.
0:01:42.8 DS: Sorry, I'm moving things around on my screen. But today, we're gonna be talking medical legal considerations for when guidelines change. I'll introduce everyone in a second. We do record these for Inside the GENOME podcasts. We put them up there. We're gonna be coming back. We're also gonna take a little hiatus in the beginning of January. Just, hey, everybody's busy getting over the holidays. They're out running, trying to burn those calories. So we're gonna come back in the end of January. That will be talking patient-friendly language. That's gonna be with Leah Center, who's at Ohio State University. So she's got some expertise in this. Also Shelly Cummings, who's also gonna help with the chit-chat. Thanks, Shelly, who notified me that she has some back problems today. So hopefully, your back is feeling better, Shelly. And I already see you sent a chat message where people can email you or put in the chat questions and we can make sure they're answered. So thank you.
0:02:50.6 DS: We've been, again, posting these on Inside the GENOME podcast. So you can go, click on all episodes. And anything that says Myriad Live is from this type of format. And if it doesn't say Myriad Live, it's just me sitting down with usually whoever's in the title. And those are usually about 20 minutes. And the Myriad Lives are usually 50 minutes to an hour after we cut them a little bit. We've also been putting the... We started a really good molecular tumor board. So people haven't sat in on this. This is pretty amazing. We have a next one coming up in November. You can register there. Sorry, December. Then November one, we're gonna post soon. And then I did wanna point everyone to this sign-up. So this is now a new little link we put on the Myriad Live page. And you can just get here by googling Myriad Live, but it is on the regular myriad.com website. But if you click this sign-up, it'll actually... I don't know if people can see this. Can people see this? Okay, great. Yeah, you can actually just... "Do you wanna be notified of future webinars?" So we've had some people already taking advantage of this pathway. And thank you for putting your emails in, if you're on.
0:04:12.4 DS: Once we really get this rolling, for instance, as we post new ones, like in February, which we've actually already have the schedule built out till March. So we're gonna be putting some new ones up. Just great things to talk about. But as we start posting these up, you'll get kind of an automatic push at that point. I don't know if it'll be on your calendar or just a register, but we're still sorting that out. We haven't really operationalized it yet.
0:04:37.8 DS: But thank you all for coming on today. So now I'm gonna do a little round robin of all the special guests that we have on. So one, I wanna say thank you to Tinamarie, who is on today. Tinamarie Bauman is a advanced practice nurse. She's the system director of Nursing Clinical Genetics Program and Ascension of Illinois. So thank you for coming on. And the reason she is the extra special guest is because she's the one that proposed this topic. So thank you [chuckle] for bringing it to the attention that, "Hey, this is something that's meaningful for your clinical practice." It's just a great topic. I mean, being a clinician myself, yeah, this is where the rubber meets the road, on how you do follow-up for your patients and take the best care and have that, really, next level top quality in your practice. So thank you for bringing this up. We also have Bita Nehoray, who I have worked with for many years. She is a licensed board certified genetic counselor. She's an expert in hereditary cancer genetics. And she's an aged genetic counselor. Is aged a substitute for senior? I don't know. [laughter] Making a joke. But no, she's not aged. But she is a senior genetic counselor in the division of Clinical Cancer Genomics at City of Hope.
0:06:08.9 DS: And then we also have... I already mentioned Edie and Shelly. We have Dr. Gary Marchant. Sorry, Dr. Marchant. Thank you for coming on. So Dr. Marchant is a Regents professor and Lincoln professor of emerging technology of law and ethics. He is faculty director for the Center of Law, Science and Innovation in Sandra Day O'Connor College of Law at Arizona State University. So we are very excited to have you on, Dr. Marchant. Thank you. As the topic implies, we can do a lot of the medical, but it's nice to have someone on just to make sure that we're going down the right path on the legal side. And then we also have, I don't know if she's on, Allison Jay. Are you on, Allison? I didn't look in a second. But she might come on if she's not on yet. But Allison is also from Ascension, but of Michigan, and she works with Cancer Genetics Program at St. John Hospital and Van Elslander Cancer Center. She's a clinical and medical biochemical geneticist. So I think she was just gonna come on and maybe talk about how she's had a few cases that relevant issues have come up. So I'm gonna pause there.
0:07:40.5 DS: And just kind of last thing is, we'd love these to be interactive. So if you have questions, please unmute yourself, ask whatever's on your mind. We'd try to keep these theme-based. Today's medical legal implications for follow-up care of patients, taking the best care of patients. I assume it will largely be around the hereditary cancer side, but doesn't need to be. So if you have questions, unmute yourself. But if you don't wanna unmute yourself, definitely just put something in the chat. We'll make sure it gets addressed. So Tinamarie, I'm gonna turn it over just for you to kind of start a little bit and kind of orient the audience, and we'll go from there.
0:08:23.6 Tinamarie Bauman: Yeah, so this topic has come up, it's come up in Ascension. I'm actually on a group with a bunch of great genetic counselors and advanced practice nurses. Stephanie Cohen, I don't know if she's on, but she's great. She's a great leader. She's great. Ascension, we're trying to come together and develop standards of practice. And I was really interested in a talk that she was giving because in Ascension, this topic's not been new. Dr. Maganini is a brilliant breast surgeon who, when the guidelines changed back in 2014, 2015, he actually had a project. And we did recontact patients. We did this, we contacted the IRB, we recontacted patients when guidelines changed. The yield was very poor. So when Stephanie and I were talking about this, we're talking about this at Ascension, it was really a trigger 'cause I'm losing sleep over it. And the big one I was losing sleep over was the PALB2 guideline change. And so that's why I'm like, "What is everybody doing? Is anybody else thinking about this?" After age 45, we need to tell our patients, "There was nothing in there about removing your ovaries and fallopian tubes, so it's reducing."
0:09:42.4 TB: So this has been keeping me up at night. And I have questions for the group. I wanna hear what everybody else is doing. I know what I'm doing in my practice currently. And we have this little thing that we put in our letter. Basically, it's a little clause that says, "Please notify us if any changes happen, personal, family history changes. Call us for any updates." Is that enough? I don't know. Stephanie brought up this question too. She had the same question. Is there anything enough? Is that enough? What else do we need to do legally? And Stephanie shared a bunch of articles. I did a lot of research. Dr. Maganini and I did a lot of research looking to see, is there anything? I contacted our risk department. And I can't come up with anything that says, what are we doing? Is this gonna protect us? Do we have an obligation... I do think we have an obligation to contact our patients. But the challenge is, who do we contact? When? How do we contact patients, and what methods? So that's how this all came about.
0:10:51.6 DS: Yeah, no, thank you. And so what was the guidance from your risk management department then? They just didn't really have a good suggestion?
0:11:02.1 TB: They really didn't know. They said they're going to look into it. They said that based on what we're currently doing, is we pulled our list from our own database. We're cross referring it from the list that we are getting, like, I asked Marriott for the list and the genetic laboratories that we're using. So we're making sure we have a comprehensive list, and we are going to contact our patients. We have decided, my team, to divide the list up and contact patients directly. Risk felt like that was a good method and to document it, obviously. But as you understand, it's challenging. It takes time, takes time away from consults, follow up if we don't hear back. My team is also... We're gonna contact the provider first. Being advanced practice centers, I know exactly what happens with patients. The minute you call a patient and say, "Hey, there's a guideline change," or, "We're gonna recommend medical surgical management," initially, they're gonna hang up the phone and call the physician. So we're always gonna call a physician first. Hopefully, a physician still practicing, still following that patient, contact that physician so he's prepared, not blindsided by a phone call. That's our goal.
0:12:15.0 Bita Nehoray: Just a follow-up question to that. So it sounds like your form of contact, Tinamarie, would be, once you contact, at least, the treating provider, is a phone call to the patient that was affected by the guidelines change. Is that right?
0:12:31.0 TB: Yes, 'cause 2016, we did a huge project. Dr. Maganini spearheaded it. He's a brilliant breast surgeon. And we did send out 300 letters. The yield was poor, 10%. It was a lot of work. We went through legal, we got our letters approved. We have all the data, we have an abstract, we published it. But it was a ton of work, and it was very disappointing.
0:12:53.7 DS: What was that for? What guideline change was that for?
0:12:56.4 TB: When panels came out.
0:12:58.0 DS: Oh okay.
0:12:58.1 TB: When we're now recommending. So Dr. Maganini is like, "We need to contact our patients." So we utilized our cancer registry data, got a hold of all the patients that would obviously fall into that. We sent out about 300. So we went from 2011-2016, and we sent out about 300 letters, but it was just disappointing. So much work, and it was disappointing.
0:13:23.7 BN: And then just another follow-up question, and I can obviously speak to our experience later at City of Hope, that I think might be helpful as we think about sort of suggestions or framework is, a little bit more about what your clinical practice looks like. I think historically it's not uncommon for genetics to be a primarily consultative service. So there's so many of our patients that we see maybe for just pre and post-test counseling and then they go back to maybe the referring provider, who may be doing the management, versus there are some centers that also have high risk follow-up. And I think that also maybe impacts how we think about best ways for recontact or sort of like the yield, as you say, with the types of methods. So do you find that your practice is mostly consultative, or do you have a mix? What types of patients are you seeing?
0:14:11.9 TB: We have a mix. So we do have a high-risk clinic. We have a very established Dr. Robert Maganini with nurse practitioners. We also have a couple other high-risk clinics throughout our Chicagoland system. And obviously we have advanced practice nurses seeing patients doing consults. So it is very much mixed.
0:14:30.8 BN: Okay.
0:14:31.9 Edie Smith: So it seems like we have two issues at hand. We have kind of what's just good care and making sure patients are well-cared for. And then we have the second question that's different, and it's really, what is the medical legal liability? So NCCN guidelines in their pages on the genetic evaluation of patients, those early pages before the guidelines really start in the HBOP guidelines talk about patients benefiting from re-consultation. And they talk about the different reasons why. And one of them is when management changes. But they really don't give anything other than saying patients would benefit from re-consultation. I'm very interested to hear what Dr. Marchant has to say. He authored a very, very interesting article in 2020 in the Journal of Law, Medicine & Ethics. And it was on translating genomics into clinical application. And in that article, there were really only two instances that were noted that were kind of on the medical legal side where a provider would have some responsibility. But the thought, at least in that article, was that there really isn't an obligation on the provider side to recontact other than the two limited situations. Dr. Marchant, could you speak to that just a little bit?
0:16:07.8 Dr. Gary Marchant: Sure. I'd be happy to. So actually I was just part of a four-year NIH grant, Columbia Hospital on this exact issue, of the duty to recontact patients and genetic results change. And so this is a grant headed by Paul Appelbaum and Wendy Chung. And we had four groups. We had a clinical group, an economics group, an ethical group, and then I was part of the legal group. And we published a series of articles. The overview piece was just accepted by Genetics and Medicine, so they'll be coming out soon. But we published an article. Ellen Wright Clayton was the lead author, I was a co-author, in genetics and medicine about a year and a half ago saying there is no legal duty at this time. Now, you could be the guinea pig and be the one that jury set a new duty for and go down in infamy as a main defendant in that case. And of course, no one wants to do that. But as of this time, there is no duty under either any statutory or regulatory duty or under any precedent. And it sort of goes against sort of the whole gist of medical care in terms of, you don't have an affirmative duty to be the guardian of your patient. It's really their responsibility to come to you, not you to go to them.
0:17:23.1 DM: Now, we did have an ethical group, and they said ethically it would be good to do this. Sort of the point you made of the good clinical care. It's great if you can do this, but you do not have a legal obligation at this point, and you aren't really in danger of being sued for this at this point. So hopefully, you can sleep better at night.
0:17:47.1 DS: No, that's very helpful. And thank you so much for coming on and sharing some of the expertise. Sound like you have a lot of experience in this area. So congratulations on the grants and the new upcoming publication. We'll have to definitely keep an eye open for it. Bita, do you wanna explain what City of Hope is doing? And I know this has come up on a few different fronts. When I was there many years ago, I remember even this concept of the genetics home, we were thinking about because as you brought up a consultative services is one thing, but people when they come see a genetics professional, oftentimes they think like, "This is my genetics group." And even if we only see that person one time, they tend to think that way. And I remember a patient that I had with one of the other genetic counselors where we saw her one time, a variant was reclassified. It went from... When I saw her, she had a likely pathogenic variant in a gene called PTEN. And there was some really neat, the features and everything. But clearly, it was being stated on lab report, those likely pathogenic got downgraded over time. And I've actually even published on this case. That was in the Oncotarget in 2019.
0:19:17.8 DS: But long story short, downgrade to VUS, and we never got the report because we weren't the ordering provider. We were just the consultative service provider. The report went to her primary doctor, sat on somebody's desk for months and months and months. And then she was very frustrated with us because we did not have that information and couldn't contact her and things like that. And actually, that prompted us, at City of Hope at that time, to make a change in the clinical department where we were then taking that extra step to make sure that we could be a CC'd provider if there were updates to the variants for that lifelong care. But yeah, curious regarding PALB2 in particular, or however you want to frame it up. And for those that don't know, PALB2 for ovarian cancer risk, it was really listed as insufficient evidence for management. And now it's been upgraded this year to consider risk-reducing salpingo-oophorectomy for these individuals based on some recent literature that's been coming out showing probably like a 4-8% lifetime risk for ovarian cancer. So yeah, take it away, Bita.
0:20:34.3 BN: Only makes it more confusing, right? [chuckle]
0:20:36.0 DS: Yes.
0:20:36.8 BN: Yeah, and I remember that case when you were at City of Hope [chuckle] pretty vividly too. And I think that even brings up additional sort of considerations as far as what is also the laboratory's responsibility, because not all laboratories that we use for germline testing also have the ability to redesignate who your genetics provider is. So I think that that brings up a lot of issues, which is why I appreciate what Dr. Marchant had to [chuckle] share about really, we need to be advocating for and empowering and not just educating our patients about genetics, but also on their ability to advocate for themselves and understand that they also need to take sort of the responsibility to think about recontacting us and not just sort of the other way around as providers. Yeah. And I think this is an ongoing and evolving discussion as it relates to different areas of genetics and what we've experienced at an academic center where we have a very large volume. We're testing now on average about 8000 patients per year. And so this is becoming an increasing issue, and it has changed how we think about how are we scaling to account for things like medical management guideline updates, but also variant reclassifications and sort of the whole gamut.
0:21:54.8 BN: And some of that has been methods that Tinamarie shared, that we used years ago in thinking about using almost like a newsletter and recontacting our patients to say, "Hey, do you meet these criteria? Then you may want to consider reaching out to us to talk about update panel testing," for instance, when that sort of came out. And I don't have the numbers. I would say similar to your experience, Tinamarie, the yield probably wasn't great, but we were surprised, the number that still reached out to us. But thinking about the overall uptake, it was pretty low. Whereas I think where we've seen the biggest response rate, so to speak, is actually educating our network of providers on these updates, whether it's like for update panel testing or issues with variant reclassification. Like for instance, them ordering the tests and then referring to us creates a problem when you're thinking about genetics home based, because as much as you can encourage patients to also fill out those redesignation forms when they exist for labs, not all labs have them, but not all of them also return those letters.
0:23:03.0 BN: And so I think that's where we changed our practice, just like you shared, TJ, in thinking about how do we make it more explicit in documenting what are the expectations for this provider-patient relationship. And it's much like what Tinamarie shared, where it's like these recommendations are based on the information we have available today or based on the guidelines as they exist today. We encourage you to contact us periodically for updates to testing, updates to interpretation of any variants, or honestly, we've had right negatives that get upgraded [chuckle] to the US, so sort of the whole gamut. And then also changes to personal or family health history. I think we have the benefit of, at least at our center, and this isn't the case, which is why I asked, for Tinamarie or others, if you're mostly consultative versus also having a high risk or some sort of follow-up element, is, I think some of us are hopeful that at least those that test positive, we may be following on a periodic basis, whether it's every six or 12 months because we're coordinating their screening or other elements of their care. So those are other opportunities to reassess when those guidelines change or cascade testing of family members that prompts those discussions. But we know that that's not all perfect and patients get lost to follow-up.
0:24:19.3 BN: So I think right now, just given the scale and how often there are changes and how many genes we are testing for and where guidelines exist for these, NCCN is one of many places that we go to as providers. I think it's really a matter of thinking about how do we rethink the education piece with encouraging patients to actually follow up with us and/or build systems in place and thinking about, "I'm going to set this one-year follow-up," which is hard when you have a high-volume clinic and you don't have capacity. Or maybe you say, "Okay, I have a BRCA carrier whose status post-bilateral mastectomy, like risk-reducing salpingo-oophorectomy." They don't have a family history, maybe a pancreatic cancer. So there's no indication for other types of screening outside of maybe skin cancer and routine cancer screening. But to say, "Let's actually set up a follow-up maybe every two or three years to account for that so that it's all automatically blocked out," you'd have to look at the yield of patients showing up to that when it's been so long between visits. But I think that those are things to think about within whatever healthcare system you're in and maybe what levels of technology are available.
0:25:37.4 BN: But I think the reality is wanting to make sure we're not overcommitting. And then our other thing is we don't want there to be a discrepancy in the level of care that patients are receiving to say that, well, if you were tested through this pathway, for instance, at our center, we have many different ways patients get tested, that we have the benefit because of how that system is set up, where we're more readily getting these updates or notifications or we can track if you're positive, X, Y, Z, and be able to recontact those, whereas there may be patients who are tested elsewhere. And so how do we also create equity in this process? And these are all questions [chuckle] that I don't have answers to. I don't think any of us do, which is why I think so much of it is revisiting how we think about the education piece when it comes to genetics or healthcare in general for patients.
0:26:31.7 DS: Yeah. Yeah, no. Well-said. And I was thinking back while you're talking about, even the recontact, how difficult that is. Telling people to come back is one thing. And yeah, if you have the luxury of having a system where you could schedule a visit [chuckle] three years out, that's fantastic. But the recontact is really challenging when things change. Tinamarie, when you said you went back to those few hundred people, that was through Dr. Maganini's spreadsheet? Because that's a lot of work, to keep all that information somewhere.
0:27:06.1 TB: You know... Excuse me. Dr. Maganini has an amazing database for himself. We also use the cancer registry. So we put in criteria. So we were able to get a list from cancer registry and with Dr. Maganini's database. And then all this had to go through Legal. So any letter we wrote, postcard, we made it very convenient. "You can either contact us or use this postcard." So we had this whole really nice package put together that Legal did approve with all the language obviously. But yeah, that's how we created this list of 300 people. But the yield was poor. And speaking of Bita, I wanna hear your experience. In my experience, no matter how well we pre-educate, do post-counseling, pre-counseling, do this information, people get nervous when you contact them. First of all, the cancer door is shut. So depending on how long ago it's been, some people don't wanna open that door again. They're like, "I've been there, I've done that, I've tested. You told me I'd never have to test again." They get confused. "What do you mean? Do I have to retest? Is the test incorrect?" So you feel like you have to do a lot more re-educating depending on how long ago it was. There's a lot of anxiety that we have to factor in as well.
0:28:26.8 DS: Yeah.
0:28:27.5 BN: Yeah. And the financial burden and other pieces, right?
0:28:31.0 TB: Yes.
0:28:31.2 BN: The questions that come up with patients that are all barriers to sort of their maybe enthusiasm about coming back to revisit all of this.
0:28:38.1 DS: Yeah.
0:28:39.3 BN: I agree.
0:28:39.4 DS: And as you brought up, Bita, just the sheer bandwidth, to be able to do it is a lot. And especially if you're bringing a good chunk of your patients back with VUSs and things like that, that's gonna load your clinic really quickly with probably ultimately low-yield changes. It tends to take three to five years for a VUS to change, for instance, or similar probably for guidelines, when we think about how long it takes for things to get more entrenched if something is listed as insufficient evidence. It usually takes half a decade [chuckle] before there's enough evidence to kind of move it one way or the other. So yeah, that could really fill your clinic pretty quickly with a lot of just follow-ups that, to your point, Tinamarie, they're kind of like, "Why am I here?" Or just increased anxiety and things.
0:29:27.5 ES: I think there's always...
0:29:27.8 TB: "Well, why are you calling me?"
0:29:29.9 ES: Oh, I was just gonna add that I think there's just some standard verbiage that many use in clinical practice that talk about genomics and genetics being a rapidly evolving field, and new information is becoming available all the time, and periodic reassessment is important. If anything changes in your personal or family history, come in sooner, but think about checking in periodically, whatever that means, every two or three years just to keep on top of changes. I think that's pretty standard verbiage. I'm kind of interested, Dr. Marchant, coming down the pipe, what do you see in the future as far as that approach, or do you see, from your perspective, things changing?
0:30:22.6 DS: And I'm curious too about just the language that Edie was talking about, even if you could comment on that. How useful is it to put that type of verbiage in provider reports?
0:30:34.9 DM: Well, so first of all, the language is very important. I did another study that was published in Food and Drug Law Journal where we looked at every liability case involving genetics going back to 1980. And one of the key issues in contention is what did the physician or the provider actually say to the patient? And did you tell them, whatever, that, "You have to get retested," or, "You have to come back," or anything like that. That often was a contentious issue in many of those cases. And so to have it in writing that you're advising the patient, "You need to revisit in two years or whatever," would be quite useful to the doctor, at least, both to try to get them to do that, but also in protecting yourself from liability. A couple other things. So one is, the standard of liability in the United States for doctors is not usually based on what is the right thing to do or what is reasonable. About a third of the states have gone to that standard, of a reasonableness standard, where you look at things, what are the clinical guidelines, what is the right thing to do. Two thirds of the states are still on custom, which is what do doctors do in your jurisdiction, or in some cases, what do doctors do nationally? And so if nobody's doing it, you're not liable, even if it's the right thing to do.
0:31:49.1 DM: However, if people start doing it, the balance shifts. And so in the article that Ellen Wright Clayton was lead author of, one of the things we point out in that is that we found quite a few labs are now starting to, when they get a change, notifying the doctor that, "We've previously told you this was a very unknown significance. Now it's pathological," and they'll notify the doctor. And so if labs are starting to do that, it may create a standard that all labs have to do that. If particularly there's a lab in your state that's doing it and you're not, then they can introduce that evidence to say, "Hey, Lab A is doing it. Why weren't you in Lab B?" And the standard should be following what Lab A is doing. So it's a moving target because to the extent people are in fact doing this, it changes the standard, because that's the standard in most states, is what is the standard.
0:32:46.2 DM: And then just a couple other quick things. One is the whole issue of insurance. So if this becomes a bigger and bigger undertaking, in the grant from Columbia, we had a whole team, and I wasn't part of it, but I listened to a lot of their reports, looking at the insurance coverage, and they had a bunch of people from insurance companies. They're not covering this usually right now. So the provider or the lab or whoever's doing it is sort of paying out of their own pocket. And if it's just a few cases, that's one thing, but if we get more and more into genomic medicine and this becomes a regular thing, how will this get paid for?
0:33:24.5 DM: And so in this article we have coming out, we're suggesting that there actually be an option to pay at the time of testing to have your results revisited. I don't know if that'll fly, but in order to deal with the economics of this, that it's okay if it's just a few times a doctor has to do this, but if it becomes a regular thing, that's a big imposition on a physician, particularly if they can't get reimbursed for it. And then just the last thing I'll say in terms of the future, I think a lot of digital tools will have an interesting impact, particularly if there's tools for the patient that's gonna automatically notify the patient that, "Your variant that you had has now been reclassified or there's a new guideline out about it," that that will go directly to a patient perhaps through an app, and that may also change the dynamic quite a bit of putting the responsibility on them to go back to their doctor.
0:34:20.9 DS: Yeah, no, it's really interesting. I mean, there's kind of these three entities, and it's like, who's the bulk of the legal burden potentially gonna fall on. The patient, the lab, the physician or practice? It's so complex.
0:34:36.3 DM: Yeah.
0:34:36.8 BN: Can I ask sort of two follow-up questions/comments related to what you just shared? One is, I'm curious to hear about what you shared about part of it may legally depend on what else is being done or sort of what's becoming more standard in your jurisdiction. And I guess how are you able to account for that unless there's like actual published literature? Like, is it really reliable... I can't imagine the courts are like, "Let's do a survey of these particular providers in that region to show that this is actually becoming more standard of care." Whereas for multi-gene panels, I feel like there were early adopters. But I feel like it wasn't until there were increasing publications showing the value of that updated technology that there were obviously insurance policy, medical management guideline changes, etcetera, that supported it's used to say that this is now standard care. So how is that being accounted for?
0:35:35.9 DM: Pretty sloppily. [chuckle] And so it's basically done by an expert coming in and say, "I don't do this."
0:35:41.8 BN: Okay.
0:35:42.2 DM: For the doctor. So the doctor's expert will say, "I'm a physician, not affiliated with the defendant, practicing in the same jurisdiction, and I don't do this. And as far as I know, none of my colleagues in this state do this." And then the plaintiff will have an expert, who also in, usually, that same discipline, and say, "I do do it. And I know of other doctors who do it." And then it's up to the jury.
0:36:05.4 DM: And they don't cite... One of the papers we did, this big project out of the University of Minnesota that the Journal of Law, Medicine & Ethics article came out of, we had this big project called Law Seek of 30 people for five years looking at the legal aspects of genomics. And one of the papers, I don't think has been published yet, was looking at what do courts, judges and juries actually look at. And the disturbing conclusion was they don't look at published literature. They don't look at guidelines. It's just a word of mouth of the expert, that's often not supported by anything other than their own opinion and experience. And so it really opens the door to a lot of sort of questionable evidence because obviously these experts have a financial interest in supporting their side, they're getting paid. And so they'll just say things without having to back it up with any kind of published data in order to make that claim. So that's sort of problematic, I think, in terms of the quality of the evidence. And it's why a lot of academics, at least, think we should shift to more of a reasonableness standard rather than a custom standard, which is 100 years old, but only a third of states have made that shift so far.
0:37:18.1 BN: Yeah, thanks for that. Yeah, and the other comment I was just going to make about part of it is seeing a sort of like technology shift, which is problematic if you're in lower resource settings or things like that and thinking about access, but it did make me think about, so ClinGen has a study called GenomeConnect, which is a patient-based registry. So it's sort of patient-initiated as far as joining. But through ClinGen, they do have a process by which in some circumstances they'll recontact patients about maybe updates to their testing, so if there was a variant reclassification, and that would be outside of, say, their provider also getting the standard notification from a lab, depending on that lab's variant reclassification process. So there are, I think, maybe resources like this that are being explored. I don't know what their process is. And I imagine it's maybe similar-ish to a high resource need as far as someone curating and then contacting those folks. So it might not be scalable when we think about the number of people these days that are increasingly getting tested, but it's nice to see that there are some of these methods being explored.
0:38:31.9 BN: And I also wonder, TJ, from maybe the laboratory's perspective or other folks from Myriad on the call today, and thinking about laboratories are now also increasingly having their own patient portals where patients can request access to their test results, etcetera. And so are there laboratory considerations for while your responsibility is not necessarily the medical management of the patient, it's the sort of classification piece, but a lot of laboratories are including guideline recommendations based on test results. And so what is the responsibility to update that and notify those patients in their respective portals? So those are also other maybe opportunities to be recontacting, though it's questionable how appropriate it may be [chuckle] because it might be a departure from what that individual's care recommendations were. Obviously we don't treat test results in a vacuum. There's a lot of nuance to what are appropriate recommendations. Guidelines are guidelines. So I think those are other maybe opportunities in exploring how do we update folks over time.
0:39:43.6 DS: Yeah, absolutely. We wanna do the best for the patient on all fronts. So moving towards patient portals would be a great thing. There's only a handful of labs that have patient portals in today's era. And even thinking about variant reclassification. If you look at all the labs doing genetic testing, how many are even doing some element of variant reclassification? Outside of some major labs, obviously, but plenty of reference labs and academic center labs and things like that aren't even really getting into it, unless prompted. They might be passively doing it if someone contacts them and says, "Hey, have you seen ClinVar recently? Every single lab now calls this pathogenic. And you called my patient a variant of uncertain significance six years ago. Can you relook at this variant or something?" So it's all good points. We have a couple questions.
0:40:37.0 Shelly: TJ, we have a couple of questions.
0:40:38.6 DS: Right. Yeah. Thanks, Shelly.
0:40:39.9 Shelly: So Brianna is gonna unmute herself and share what happened in legal practice for her.
0:40:47.1 Brianna: Thanks, Shelly. I kind of have a comment/question for everybody, just because I had a fair number of patients in clinic where I might test them or see them when they were exceptionally young, like in their early 20s. And sometimes the recommendation that you have for people at that age is like, "Hey, when you're 35 or 40, you should be starting colonoscopies, which is 15 to 20 years from now." So I feel like that's like an entire group of patients who maybe aren't as straightforward in the notification category because they definitely need to be recontacted or they need to recontact somebody because imagine all the things that could change in the next 15 to 20 years. But it's not as straightforward as like you have a poly-2 mutation and now the guidelines have changed and now I can go search for that patient list. So I guess my comment is that I struggled with that in clinic in trying to figure out what to tell them. But I'm curious if you guys have also struggled or have strategies around what you do for those particular patients.
0:41:52.6 BN: Yeah. And I'll add, Brianna, it's not just even for their test results. There are folks we see who are younger who have negative or uninformative testing, but have empiric risk, where it's like a 23-year-old woman, but things like Gail or hierarchies, like you wanna age-adjust those models and they're not necessarily appropriate. And so I think part of that is, I have a discussion to say like, "If you were this age now," which isn't great, but like this is how we think about that, but this is all very likely to change. And so I think it's, again, sort of thinking about how do we encourage them revisiting periodically. Like we've tested children who are young adults of, say, BRCA carriers, maybe male children, where there aren't necessarily screening recommendations until they're a bit older, unless it's for also family planning considerations that might prompt to think about things a little younger. But setting up, again, sort of like thinking about... I really appreciate it sort of off topic, but someone like Dr. Rowan Forbes Shepherd, who... He's at the NIH, and he does a lot psychosocially, especially with young LFS youth, and sort of the idea of revisiting things at key pivotal times in someone's life.
0:43:18.5 BN: So not necessarily just based on age, but saying like, "I'm testing you right now. You're 19. Nothing's gonna change for your care, maybe until you're 25 now that we know you're BRCA1 positive. You're in college right now. Let's maybe reassess [chuckle] in two years and see where you are." So thinking about other sort of life time points, it's not a perfect system either, [chuckle] because there's not any... Nobody lives their life in the exact same way as others and thinking about some of these life moments. But I think that those are still approaches to say that like, "Yeah, your care might not necessarily change based on what we know in the next 10 years, but look at the family history we didn't know about up until a year ago. So why don't we plan to see each other again in two years?" Again, maybe not practical thinking about volume or other things, but also probably recognizing that some of those people move, their contact information changes, and a lot of them [chuckle] may be lost to follow-up. So that might account for some of that attrition. I don't know. But those are some of my thoughts and sort of what we experience, is just sort of encouraging them either to recontact and/or also saying like, "Speak to your healthcare provider, whoever's gonna be coordinating your breast care, and let them know, as well as us, about some of these changes, 'cause they might see them more frequently and capture that."
0:44:45.6 TB: So what we do in our practice is, we document, we send them back to the referring physician and/or who the referring physician has referred them to follow. So we document it, we make sure that that patient is being bowled, and that referring physician or the physician that they're being referred to, whether it's high risk score or obviously other medical surgical management is following. And then they're in our system. So we do update our physicians with the guidelines. I do agree, Bita, with the challenges, is when we write that in our letters that, "Contact us," this is the information that we provide, we provide the version of NCCN guidelines we're using," I do get a lot of phone calls from patients saying, "Is there any changes?" What we're currently doing is we will create another letter and edit it with the current risk scores. Now, my challenge is going to be going forward, how viable is that? I do that for a number of patients now. And if patients are doing that, they're calling, but how are we gonna handle that volume going forward? And is that sustainable to create another letter with updated numbers and discussion? That's like a whole nother visit. It's very challenging.
0:46:03.3 BN: And I think that...
0:46:03.5 Shelly: Another challenge that we've...
0:46:04.7 BN: Oh go ahead.
0:46:04.9 Shelly: Oh go ahead, Bita.
0:46:05.8 BN: I was gonna say that also I think that has to be factored in as billable time because... And maybe that's sort of like what Dr. Marchant was sharing about this more. I've had my own personal healthcare providers that have this more sort of concierge service, so to speak, to say that, "We're gonna charge you a yearly fee or a monthly fee for also things that account for administrative documents, insurance, like pre-verifications, appeals, peer-to-peers, all of that stuff." It's not really a great thing to receive as a patient to say, "Okay, well, healthcare is already expensive [chuckle] and now there's this added expense." But I think that we have to think about ways to build those into our time. I've had, in my training, supervisors that have said... 'Cause I've said, "Okay, we'll we'll fill out the minimal parts of the TRF," when we were using [chuckle] paper TRFs. "I'll fill in your address, your contact information, your family history, etcetera, for the justification. Sign here," so to speak. And I've had supervisors that are like, "No, you let them sit there while you fill out the entire form, 'cause you need to account for your time." [chuckle] So I think that we also have to factor that in better as healthcare providers and that obviously insurance companies and other payers have to follow suit with recognizing that at a time. But yeah, this is my...
0:47:31.0 DS: Yeah, even on the laboratory side, I'll comment just from that perspective. For instance, just on the reclassification front, we have almost a million reclassifications at this point, reports over the history. That's a lot of work. Even if you have 90% of that automated and it's kicking out reports, there's still a lot of tracking down, a lot of customer service. There's people behind a lot of those efforts. And just having the staff on hand to continuously go through variants when they're kicked out of red flags over the years, if they start looking suspicious for reclassification. It is a lot of added expense all around.
0:48:14.5 DM: Hey, Thomas, can I ask you? When you do a reclassification, do you send a notice to the physician or to the patient, or both?
0:48:21.8 DS: Yeah. I think it just depends by laboratory. The physician, for sure, I would say that's the most standard across the board. And then to the point of patient portals and contacts, I think laboratories do it a little differently there.
0:48:37.4 TB: So I have a question regarding that, because the amount of reclassifications is overwhelming. We deal with so many reclassifications. We do contact our patients, whether it's... Even something minor, it's downgraded to likely benign. We do contact our patient. We do provide that to the referring physician. So we do take that time and do it. So it is very overwhelming. My question is to you, the liability. On our forms, we put our referring physician. So there's two names, not just one. What happens when a physician leaves a group and you can't get ahold of them. Or let's say an advanced practice nurse or genetic counselor leaves, some of those just put one name on there. What do you do? What's the liability there? Especially an upgraded VUS to a pathogenic. That's a concern of mine.
0:49:27.8 DM: Yeah, that's a tricky question. So first of all, one of the things we flagged is, if the physician does get a letter from the lab saying that there is a reinterpretation, there's no case law on this, but it very well would be risky for the doctor not to pass it on to the patient or at least make a reasonable effort. Again, sometimes there'll be no way to find the patient. They've moved and haven't left the forwarding address. But the question you raised is another interesting one, is what if the physicians no longer practice or no longer there, then what happens? Where does it go? Again, you can't put the duty on a lab to try and research who's the person who took over that physician's practice or anything. I think that's too burdensome. And so I think it's a difficult question without an easy answer.
0:50:15.7 DS: Yeah. And in organized systems, usually there's a chain of custody, essentially, when the provider leaves. And instead of physician, I should have said healthcare provider in particular. I mean, the ordering provider is really who gets the result. And then anyone else that CC'd on that, that may or may not be a physician. Yeah, and especially with EMRs now, you can obviously designate colleagues to get results. But yeah, there's clearly a lot that can get lost in translation.
0:50:46.4 DM: Right.
0:50:50.6 BN: And I added a little bit of what we've done, Tinamarie, to address the variant reclassification volume [chuckle] issue with other folks I work with, sort of adding to that. So we decided, given the number of people that we're testing, we actually made a change in our practice not too long ago. And Ilana Solomon, who's the manager of our precision medicine program, she also had an abstract at the AACR Precision Prevention Meeting recently talking about sort of how we've scaled some of this with return of results and variant reclassifications. But we ultimately made a decision after having discussions with our group to no longer actually... And we document this, of course, but no longer do we contact patients about changes that aren't clinically significant. So a VUS to LB, when we told them, "You're not supposed to use a VUS for your clinical care anyway, or likely benign to benign, that we wouldn't necessarily contact them and that we would make attempts to contact them." And we encourage them to keep their contact information up to date, etcetera, all of those things, but also encourage them to check in periodically about reinterpretations to their test results.
0:52:02.7 BN: So again, it's sort of... And I hope that something like that also puts additional worth and value to patients to also understand that we don't use VUS to manage care. And so that's why we're not even gonna tell you when it gets downgraded because with work, TJ, you did with our group, we showed that over 90% of the time those get downgraded to benign. So those are some of the sort of... And I'm increasingly seeing other practices where they've decided not to send out letters or notifications. We store those results, those updated results. We make sure that they're in their medical records so they have the ability to access and request that. And obviously they can contact us if they have questions, but that was just a change that we made in our practice not too long ago in the last year.
0:52:49.8 DS: Yeah, yeah.
0:52:51.2 Shelly: I'd love to hear Dr. Marchant... Sorry, Tinamarie, perspective on something that's really common where patients move to a state... Suzy mentioned this, where the genetic counselor's not licensed and so they can't really legally provide any medical management updates or really cross those state lines. So what is our obligation then? Because we have the duty to warn and inform, but then we're handcuffed a little bit.
0:53:22.1 DM: Well, so I think you can still send them a letter. You can't be their provider. And so you would just send a letter saying, "Hey, I saw you three years ago. The interpretation I gave you at that time has now been changed. Here's the new result. I recommend you go see a provider in your jurisdiction to help you deal with this." So you can't give them the advice on what they should do about it, but you can update them with the results since you're the one who initially gave them the initial result, even though they're now out of state. So you can still send them the letter, I think.
0:53:57.1 TB: Yeah, that's happened to us. And that's what Legal Risk Management informed us to. We can send a letter and you can tell them, and then what you do is provide them information, like we use the national site of genetic counselors, locate a genetic counselor in their area that they can go and find somebody in their area to discuss this with. So that's what was recommended to us as well. Yeah, I have a question. Where do you... That's really good. Where do you document the fact that... Do you just tell patients or do you have in your policy that you're not going to notify patients for downgraded VUS or any type of...
0:54:38.9 BN: Yeah, we have verbiage for patients that have a VUS... Sorry, there's a little bit of feedback. Verbiage in our clinic note that we send them a copy of as well as the referring provider. So verbiage in there that these VUS or this VUS were found, sort of, again, standard language that, "This is what a VUS is, that it's not to be used for medical management, for care, or for family members. And then that say that this variant may be reclassified over time if that occurs, and it's clinically significant and would change their care that we will make our best efforts to contact them. We also re-document it in the plan section recognizing that genetics notes can be very lengthy and the reality of providers or patients actually reading through it entirely. So we have a bulleted or numbered plan section where we also reiterate that in our templates. And those are templates that we use across our practice so that there's consistency in that language. But that's how we've approached it.
0:55:42.0 DS: Yeah, no, thanks. And amazingly, we're already pretty much at time. So I just wanna check in with Allison Jay. I saw you pop on late. I did introduce you in the beginning, Allison. Just wanna make sure you didn't have anything on your mind. You're there. All right.
0:56:02.5 Allison Jay: Hi, I thought it was so wonderful, Dr. Slavin and Bita and the whole team, for giving actionable ways to handle all the uncertainty, which seems like such an enormous task. And thank you for your elegance and thoroughness today. I really appreciate it.
0:56:20.1 DS: Oh thank you. Thanks for coming on. Appreciate it. We have time for one more question. Anyone with anything out there? Great discussion today.
0:56:30.9 Shelly: Yeah, there's a question. Suzy has another one about concerns about some lab redesignation forms. Some have a time limit for the medical release authorization and she's seen some expire after a year or some lead to the original ordering provider who's no longer getting updates, which may not be appropriate for that case. So how would we address those time-limited medical release forms when the information coming to... That needs to be updated outside that window. It's how I'm paraphrasing that comment.
0:57:12.7 DS: I guess I don't totally understand the question.
0:57:15.8 BN: I mean, I can speak... And yeah, Suzy and I were obviously... You know, Suzy is called TJ. [chuckle] But there are some laboratories that have their provider redesignation forms are often it's part of the PHI release of information where they say like, "Please provide this provider a copy of the test report," or, "Please add them for purposes of future updates." And I've noticed that now, this is I say newer in the last couple of years. It wasn't like this always initially, where it would say that this will expire 180 days or however long after they've signed, which is problematic then. And then there are the labs that just don't even have that where I've run into. So how do we we manage that? I used to be able to... When we weren't doing these electronically, [chuckle] I would write or encourage the patient to add this, to say that this is valid until revoked by the patient, [chuckle] and sort of as as like another way to keep that constant, so to speak. But yeah, that's an issue that we run into, especially given that so many of us are not necessarily seeing folks 180 days, every like six months, give or take, is not necessarily realistic, and sort of how we approach that, it's a good question.
0:58:44.7 DS: Yeah, and that's probably just gonna be, again, a bandwidth and [chuckle] how to operationalize it. Yeah, there's just so much here to get into. But hey, I think we made a pretty good dent today. So the take-home to me, correct me if I'm wrong, Dr. Marchant, is legally, we don't have any obligation. [chuckle]
0:59:04.8 DM: Yeah, yeah.
0:59:05.3 DS: At the moment, medically and ethically, we should do all we can. [chuckle]
0:59:12.9 BN: Without losing sleep, right? [laughter]
0:59:14.5 DS: Yes. Or dying.
0:59:16.1 TB: And I'm losing sleep about my PALB2. [chuckle]
0:59:19.2 DS: Yeah. [chuckle] No, this was excellent discussion. So I just wanna say thank you to everybody on. Obviously couldn't have this high-level discussion without fantastic expertise. Tinamarie, thank you. Bita, Dr. Marchant, thank you so much for coming on. Edie, Shelly, Allison, thanks for popping on as well. Great discussion. We are over. I apologize. We will see you at the end of January. I put the sign-up for the Evergreen link in the chat, if anyone wants to do that. We will post this, if you wanna go back to it, on Inside the GENOME over the next few weeks. And have great holidays, everyone.
1:00:01.7 DM: Thank you.
1:00:02.3 TB: Thank you so much.
1:00:02.9 S?: Thanks, everyone.
1:00:04.9 TB: Thanks.