eMERGE CSER Session 2: Panel Discussion

[0:00] And if we could have the three speakers come up to the front again, that would be wonderful. Thank you. Mm-hmm. Thank you. Yeah, I was going to make a comment to yours. We've been doing some healthcare provider qualitative interviews as well, and in asking them, it's the same response. So I hadn't really thought about what I need to do in terms of family members. Yeah, it's just been a theme, definitely. Thank you. Excuse me, Barbara Koenig, UCSF. That was a great panel and very, very helpful.

[0:36] I just have a couple questions maybe for all three of you to address, and one is the issue for group health. Now, Kaiser, you said that you would not think about people who weren't part of the plan. So I'm curious about that issue of... how we get beyond the idea that, you know, this issue of healthcare systems and who's in and who's out. given that the family may be all over the country and in and out. So that's an issue. maybe push you a little bit more about the issue of what to do when the initial person where you have the result is deceased?

[1:07] So that's the second issue. And then the third issue, do you think this plays out the same way for secondary findings and primary findings? I'M NOT SURE IF I'M GOING TO BE ABLE TO DO THAT. First question, about-- was group health. They're not in. Oh, so that's actually step two of project, because we're really interested. I can tell you in this study trying to coordinate testing for family members who were not inside of group health.

[1:39] was just incredible. It took us 10 times the amount of time to try to coordinate their testing than if we had just drawn the blood, sent it to a lab for a single site mutation. So I think that that's something that has to be approached. on a larger scale between payers because we are all going to be caring for each other's patient, and how can we do this most effectively and not spend days trying to coordinate studies. That's number one. Number two for patients who are deceased. I know in eMERGE when we enrolled patients, we had some patients who were over 100 years of age in our population. So hopefully they're still alive and kicking when we give them their results back. Yeah, but I think that what we've decided is that if they're not there, it goes to their next of kin.

[2:39] And the third question was-- Seconders. I guess I feel... that it's important to -- I feel equally strong. I think if you have a genetic risk, it's important to communicate it. whether it's secondary versus primary. survey data. Not really. I don't think we have any Survey data about the secondary versus primary issue. I would just say I agree that I think it is important irrespective. However, practically speaking, if you have a physician who's a specialist in a certain phenotype, they may just be better equipped to reach out and communicate to family members about that phenotype. And I think for incidental secondary findings, there's an intermediate step whereby they need to figure out how it pertains to their patient, first and foremost, before they can involve family members.

[3:34] or it might be a second order priority to figure out what they should do just for practical reasons. In our return of results so far, we've really encouraged family members to attend, if possible, with the individual who's getting the return of results. And there's a couple of different reasons. Partly it's for support. We all know when you get back. Particularly it's well established in the cancer literature. If you have someone else with you, it helps in terms of hearing and understanding. But also it's another vehicle for communicating with the other family members.

[4:09] in having at least a supportive family member attend at the same time as they're. Uh, as our proband. Thank you. And I just wanted to say one thing about you see people communicating to their children, it's really hard for something to get family members sometimes to communicate to siblings and to cousins. It's really interesting how an individual, especially somebody who's past reproductive age, really just thinks about it for their children.

[4:42] So since this is CSER and eMERGE, I think there's going to, especially I assume in the next phase of CSER, there's going to be even more interest in downstream testing. I'm actually not sure that we can log into each other's websites, and I don't know if our outcomes or measures committees talk, but it would be nice. to share some of these surveys and interview guides of relatives so we are at least all asking the same questions. That was just something for maybe the coordinating centers to think about.

[5:14] They do talk, okay. Yeah. And then I guess my question has to do the one that troubles me the most and I forgot which of you mentioned it. conflict. So when I don't talk to that sister or I don't talk to that brother and whether, but that may be the person at 50% risk for that allele and whether you had any insights from your studies about conflicts amongst particularly siblings. Yeah. And they're definitely there. They're always dysfunctional families. And I think this is a real genetic counseling issue that we encounter quite often in general, you know, single gene testing or whatever.

[5:51] oftentimes we become good family negotiators in trying to find some family member that that individual does communicate with who then might be the person who goes to the family member they don't communicate with. But it can get to be very elaborate. in arranging ways to connect with family members. I don't know. I was just going to say I'm familiar with at least one program at MD Anderson where they are experimenting with obtaining prospective informed consent from the proband to contact family members in the event that there is risk information that's quite impactful and likely to have a clinical effect. Now, that's controversial, obviously, because that person has not been consented to be contacted, but I think there are ways of doing that without divulging all the information a choice to reach out and follow up if they want to. Well, and that takes it off. If you're not talking to that sister, you're then not the one talking to that sister, right? They are. Yeah. Right.

[6:53] Yeah, and that's part of the issue where you have – I've had – Patients who say, I do not want that person to know I don't care if she gets cancer. In fact, that would be a good outcome. So then you really need... It's people. Hi, I'm Georgia--is this on? Georgia Wiesner. Georgia Wiesner from Vanderbilt. I actually have two comments. And I just want to thank the group for all of your good insights and your work in this area.

[7:30] When my hair was much darker and I was starting off in genetics, one of the big things was geneticists think about families, other specialties don't. How can we empower our other specialties to really understand that diseases that run in families affect all of the families, and it's really their job as well to do that. So I'm a little disheartened that people are still saying this is not on their radar. wondering if there's some tools that we can develop for physicians to help them know that that really is part and their expanded role for patients because they do have families and they have to take care of the families. The second comment I actually have is really related to the dynamics of the family and how you go through that process of getting that information.

[8:26] We sometimes have the opposite problem of having people contact us saying there's a person in the family and they want to have testing and we have not gotten and okay to go into those records. So there's a lot of processes that have to go into place that allow you to share those records as well as encourage family members. And I can't speak enough to how people think about family. They're only thinking about their offspring. They're not thinking about their sisters, children, or their cousins. And they're not thinking about how to make mom and dad go through the process of testing so you can figure out what side of the family this might be coming from. So there's really a lot of process steps that need to go into place that would be very nice to have some sort of road map.

[9:17] Agreed. I agree, too. Yeah. I think that we, as both CSER and eMERGE, have the opportunity to begin to define some of those things um options or opportunities or processes that build tools, but also a best practice around communicating these results with family members. I think we have time for one more, just one more question. Lucia Hindorff, NHGRI. This was a terrific session. Thank you. This question is for the eMERGE investigators, and it sort of relates to the previous question about non-genetics medical professionals. So for your survey efforts, is the heterogeneity of returning results to eMERGE by either genetics professionals or non-genetics professionals an issue? Is it the same in eMERGE? Because I know in CSER, some but not all results are returned by eMERGE.

[10:08] Yeah, absolutely. It's a huge issue. And most of our sites are going to be returning results to primary care providers with the option of seeing genetics professionals. I guess maybe it's split about half and half. So we will definitely have primary care providers who will be the initial communicators of the results, but then would have the option to refer. So as far as study design, do you sort of adjust for that, or is there a way to sort of standardize? We're constantly thinking about how to inform the primary care providers, and that's part of why we're doing the survey and starting with qualitative interviews, building the survey, and then sending that out to our eMERGE primary care providers.

[10:51] Ah. Okay. Malia. Thank you. And I know we're at the end of this session, but just for people who have sort of heard me on the phone but have not met me in person, I'm Malia Fullerton, who is going to be convening this group of people who have legal interests in this issue. Thanks very much.

[11:23] Seems like a tough crowd, but let's thank our panel.