WEBVTT 00:00:00.100 --> 00:00:05.205 So this afternoon's plenary session 00:00:05.305 --> 00:00:09.676 is being presented by Natasha Bonhomme. 00:00:09.776 --> 00:00:13.980 And Natasha 00:00:14.047 --> 00:00:16.750 is the founder of Expecting Help. 00:00:16.750 --> 00:00:21.821 Let me find my notes. 00:00:21.921 --> 00:00:25.558 So Natasha brings nearly 00:00:25.558 --> 00:00:30.130 two decades of nonprofit and maternal child and health experience 00:00:30.196 --> 00:00:34.768 to her role as the founder of expectant health at the Genetic Alliance, 00:00:34.834 --> 00:00:38.505 she launched Expecting Health to bring together a range of consumer 00:00:38.505 --> 00:00:42.675 and professional stakeholders to address the need for clear 00:00:42.776 --> 00:00:46.613 science based information for families and individuals 00:00:46.713 --> 00:00:49.382 through tangible, actionable messages. 00:00:49.382 --> 00:00:54.054 Her focus is on bringing public and familial perspectives 00:00:54.054 --> 00:00:58.358 into policy and implementation. 00:00:58.425 --> 00:01:02.462 Her portfolio includes leading Baby's First Test, 00:01:02.529 --> 00:01:06.199 a National resource center that reaches over 600 families and health 00:01:06.199 --> 00:01:08.168 providers annually, 00:01:08.168 --> 00:01:11.871 being the program director for the HRSA-funded Newborn Screening 00:01:11.938 --> 00:01:16.643 Family Education Program, and participating on numerous committees 00:01:16.743 --> 00:01:20.080 on maternal and child health and dignified care 00:01:20.146 --> 00:01:23.683 throughout the prenatal and postnatal periods. 00:01:23.750 --> 00:01:27.253 Natasha has also testified in front of Congress 00:01:27.253 --> 00:01:32.092 on the importance of family support and education in newborn screening. 00:01:32.192 --> 00:01:36.096 She's an organizational representative to the Secretary's Advisory Committee 00:01:36.096 --> 00:01:41.134 on Heritable Disorders in Newborns, and she is a board member for the D.C. 00:01:41.134 --> 00:01:46.272 based federally qualified Health center Whitman-Walker Health, which provides 00:01:46.339 --> 00:01:49.809 affirming community based care with special focus 00:01:49.809 --> 00:01:53.746 on LGBTQ+ and HIV care. 00:01:53.847 --> 00:01:56.149 Natasha will be introducing some other people 00:01:56.149 --> 00:02:00.520 who will be working with her on this panel later in the presentation, 00:02:00.587 --> 00:02:05.325 but she'll be addressing A new era of early detection: 00:02:05.425 --> 00:02:10.263 The race to move our genomic sequencing and where it fits in. 00:02:10.330 --> 00:02:11.598 So welcome, Natasha. 00:02:11.598 --> 00:02:20.707 We look forward to hearing from you. 00:02:20.773 --> 00:02:22.609 Thank you so much for that introduction. 00:02:22.609 --> 00:02:24.477 And good afternoon, everyone. 00:02:24.477 --> 00:02:27.947 And I am really excited for this session 00:02:27.947 --> 00:02:31.317 because it really is meant to be the start of a dialog. 00:02:31.518 --> 00:02:36.222 It's not about endorsing one way of doing something or endorsing another way, 00:02:36.422 --> 00:02:39.659 but merely to say, Wow, we've come a long way 00:02:39.726 --> 00:02:43.763 and it's time to have more and still be part of the conversation. 00:02:43.830 --> 00:02:46.599 So we are actually going to start with a video 00:02:46.599 --> 00:02:49.602 that's going to be a bit of a one on one 00:02:49.636 --> 00:02:53.773 in terms of how we got to where we are with newborn sequencing. 00:02:54.007 --> 00:02:57.343 And then we'll jump into my part. 00:02:57.443 --> 00:02:59.913 So we can start the video, please. 00:02:59.913 --> 00:03:02.515 So I think maybe we all need to take a breath 00:03:02.515 --> 00:03:07.053 because that is a lot of information and I'm about to give you a whole bunch more. 00:03:07.053 --> 00:03:09.822 Not a whole bunch. Just ten slides more. 00:03:09.822 --> 00:03:18.765 And then we will go into our session with our panelists. 00:03:18.865 --> 00:03:21.267 And just for some additional background, 00:03:21.267 --> 00:03:24.737 the mission and focus of expecting health 00:03:24.837 --> 00:03:29.742 is really to replace the fear and confusion that many face 00:03:29.742 --> 00:03:34.347 when they're building their families with confidence and agency to be able 00:03:34.347 --> 00:03:40.553 to make the best health care choices for themselves and their families. 00:03:40.620 --> 00:03:43.623 So the overarching objectives of 00:03:43.690 --> 00:03:47.460 this session is really to raise awareness, which [inaudible]. 00:03:47.493 --> 00:03:52.665 did an excellent job, to understand intentional change 00:03:52.665 --> 00:03:57.070 and the patient's story, both in terms of early identification, 00:03:57.136 --> 00:04:01.574 but also what treatment and in turn and intervention may look like. 00:04:01.674 --> 00:04:05.511 And then most importantly is just to get the dialog started. 00:04:05.612 --> 00:04:08.982 We are big believers in nothing about us without us, 00:04:09.082 --> 00:04:13.686 and we have really seen how there are many conversations taking place 00:04:13.753 --> 00:04:20.660 that don't necessarily include all of the invested partners. 00:04:20.760 --> 00:04:22.562 So as is mentioned, 00:04:22.562 --> 00:04:27.033 there are a number of different projects taking place, not just in the U.S. 00:04:27.033 --> 00:04:33.072 but across the world for more than ten years, the NIH has 00:04:33.139 --> 00:04:36.476 invested and funded different programs to answer 00:04:36.476 --> 00:04:40.446 some of these challenging questions around what does it look like to apply 00:04:40.480 --> 00:04:45.151 this new technology to a newborn population. 00:04:45.218 --> 00:04:48.121 Those programs are called insight programs. 00:04:48.121 --> 00:04:51.324 And you can see some of the history of them. 00:04:51.391 --> 00:04:56.062 And so even though there have been these investments for more than ten years, 00:04:56.162 --> 00:05:00.600 I would say in the past three years, there really has been an increase 00:05:00.600 --> 00:05:06.172 in coordination, increase discussion about them, increased media attention 00:05:06.272 --> 00:05:09.275 as many of these programs went into their second 00:05:09.275 --> 00:05:12.278 phases to broaden their outreach. 00:05:12.512 --> 00:05:14.147 There's just more discussion. 00:05:14.147 --> 00:05:19.185 Some of the common challenges that have come up in this work 00:05:19.285 --> 00:05:21.020 has been one: recruitment. 00:05:21.020 --> 00:05:24.290 That's always a challenge in research projects. 00:05:24.390 --> 00:05:28.861 But I will say recently there really has been an uptick 00:05:28.861 --> 00:05:33.266 and I'll note a couple of different programs that have really seen, 00:05:33.333 --> 00:05:33.833 I guess, what you 00:05:33.833 --> 00:05:36.836 could consider improved numbers in terms of people 00:05:36.836 --> 00:05:41.274 being more interested in partaking in these research projects. 00:05:41.341 --> 00:05:43.543 There also have been challenges around 00:05:43.543 --> 00:05:47.146 diversity and who is signing up for the projects. 00:05:47.280 --> 00:05:49.115 What are their stories? 00:05:49.115 --> 00:05:54.587 You know, many of these programs were originally in the more metropolitan areas. 00:05:54.587 --> 00:05:58.291 Again, the phase two of many of these programs are focused 00:05:58.291 --> 00:06:01.694 on increasing the diversity in their cohorts, 00:06:01.861 --> 00:06:05.331 including reaching out to more rural communities 00:06:05.331 --> 00:06:10.069 and different communities that typically have not been part of this process. 00:06:10.169 --> 00:06:13.172 There's always the question of what about follow up? 00:06:13.406 --> 00:06:16.042 So what happens after the test takes place? 00:06:16.042 --> 00:06:19.212 What happens there, and who's responsible for that? 00:06:19.312 --> 00:06:23.349 There's still, again, many conversations happening in that arena 00:06:23.416 --> 00:06:26.719 as well as we've seen families who've gone through these research projects 00:06:26.719 --> 00:06:30.990 and have found out that their seemingly healthy newborn 00:06:30.990 --> 00:06:35.161 has an increased risk or even a diagnosis 00:06:35.228 --> 00:06:40.666 and then chose not to move forward with the standard treatment protocol. 00:06:40.767 --> 00:06:42.068 What does that mean? 00:06:42.068 --> 00:06:44.470 Is that okay or not? 00:06:44.470 --> 00:06:47.240 And who gets to decide that? 00:06:47.340 --> 00:06:50.042 And then, of course, like everything else, sustainability. 00:06:50.042 --> 00:06:51.110 What happens next? 00:06:51.110 --> 00:06:54.046 What happens after the grants are complete? 00:06:54.046 --> 00:06:57.049 Will there be a new phase or will this 00:06:57.183 --> 00:07:00.119 now be taken up as part of clinical care 00:07:00.119 --> 00:07:03.823 or a different pathway? 00:07:03.923 --> 00:07:06.926 So this map here shows 00:07:07.059 --> 00:07:11.264 where many of the programs are taking place. 00:07:11.264 --> 00:07:17.170 [Inaudible] And so you can see 00:07:17.170 --> 00:07:20.139 there are a number of different programs in different parts of the world. 00:07:20.139 --> 00:07:23.142 In the U.S., we have five. 00:07:23.276 --> 00:07:25.978 We have one in San Diego 00:07:25.978 --> 00:07:29.315 BeginNGS, which started out as a focus on children 00:07:29.315 --> 00:07:34.120 who are enrolled in the NICU and really have that as their anchoring, 00:07:34.220 --> 00:07:38.925 but are also looking to, okay, we've tested it out with sick kids. 00:07:39.025 --> 00:07:42.762 What does this look like with a seemingly healthy child? 00:07:42.862 --> 00:07:47.166 We also have The Guardian Project, which is based out of New York. 00:07:47.233 --> 00:07:50.303 And just last week, I believe, at the American College 00:07:50.303 --> 00:07:53.506 of Medical Genetics and Genomics annual meeting, 00:07:53.639 --> 00:07:57.844 they said that they had had 10,000 babies go through their program. 00:07:57.844 --> 00:08:00.546 So that is a substantial number. 00:08:00.546 --> 00:08:03.182 And then we have EarlyCheck, 00:08:03.182 --> 00:08:06.018 which is based out of North Carolina. 00:08:06.018 --> 00:08:09.755 They, I believe, at last week's meeting also noted 00:08:09.755 --> 00:08:14.494 that they are on track to bring on board 100 babies a week. 00:08:14.760 --> 00:08:15.228 So. Right. 00:08:15.228 --> 00:08:17.663 We're getting into some real numbers. 00:08:17.663 --> 00:08:21.367 And then we have BabySeq, which is based out of Boston 00:08:21.434 --> 00:08:26.405 and then ScreenPlus, which is also in New York. 00:08:26.472 --> 00:08:28.875 Then we have the groups in Europe 00:08:28.875 --> 00:08:33.813 and these are all a little bit different and we have Generations, 00:08:33.813 --> 00:08:38.551 which is out of the UK and that is a national program. 00:08:38.618 --> 00:08:43.122 So what that means is they have committed at the highest levels 00:08:43.122 --> 00:08:47.627 of their ministries of health that this is an area 00:08:47.760 --> 00:08:50.530 that they want to invest in, they want to learn. 00:08:50.530 --> 00:08:53.933 So it's still under the label of research, 00:08:54.033 --> 00:08:57.003 but it is a nationwide project. 00:08:57.136 --> 00:08:59.739 So a lot of attention looking at this to see 00:08:59.739 --> 00:09:03.976 how would this be integrated into what is currently taking place, 00:09:04.076 --> 00:09:06.412 What does it mean for our rural communities? 00:09:06.412 --> 00:09:10.049 What does it mean for, you know, just going along 00:09:10.049 --> 00:09:13.052 parallel with their standard newborn screening? 00:09:13.252 --> 00:09:15.788 Which I will note they have the number of conditions 00:09:15.788 --> 00:09:20.793 they screen for, is much fewer, less than what we screen for here. 00:09:20.826 --> 00:09:24.697 I want to say they are at ten conditions now. 00:09:24.697 --> 00:09:27.667 So again, very different from here. 00:09:27.667 --> 00:09:30.136 And then we have a number of other programs for time 00:09:30.136 --> 00:09:31.704 I won’t go into all the details. 00:09:31.704 --> 00:09:33.439 But there are programs in Italy. 00:09:33.439 --> 00:09:37.810 That is more hospital based and a very different model. 00:09:37.877 --> 00:09:42.748 So not public health, not nationwide, but a network of hospitals 00:09:42.748 --> 00:09:46.586 that are coming together to see how what they will learn 00:09:46.752 --> 00:09:52.158 by doing this research project and then also in a couple of other 00:09:52.258 --> 00:09:56.529 countries in Europe and we have Australia that has four different programs. 00:09:56.529 --> 00:10:01.434 And you may ask why would Australia have four different programs like this? 00:10:01.500 --> 00:10:03.469 And similar to here in the U.S., 00:10:03.469 --> 00:10:06.939 they are looking at it with slightly different approaches. 00:10:07.006 --> 00:10:09.308 Again, all of this to show 00:10:09.308 --> 00:10:12.812 this is really happening in a number of different places 00:10:12.878 --> 00:10:18.184 and a lot of learning is taking place right now, which is great. 00:10:18.250 --> 00:10:18.651 I will 00:10:18.651 --> 00:10:21.854 say that there are some programs that are not here on this map, 00:10:21.854 --> 00:10:25.658 so we know that in China there have been, I want to say, 20,000, 00:10:25.658 --> 00:10:30.663 don’t quote me on that - 20,000 babies that have been sequenced. 00:10:30.663 --> 00:10:35.301 And we also know that there are a couple of different programs in the Middle East 00:10:35.534 --> 00:10:39.071 that are looking to see how they would start up a program like this. 00:10:39.171 --> 00:10:42.174 But these are just the ones that were [inaudible] 00:10:42.208 --> 00:10:45.811 to the next slide I’m going to present. 00:10:45.878 --> 00:10:48.014 So because of all of this activity, 00:10:48.014 --> 00:10:52.151 there has been an international consortium of newborn sequencing 00:10:52.218 --> 00:10:55.855 that has been pulled together, which is based out of Harvard. 00:10:55.921 --> 00:10:58.391 And their mission is really to harmonize 00:10:58.391 --> 00:11:02.028 the learning across global implementation projects 00:11:02.128 --> 00:11:05.164 and they have a number of different paths that they are looking at. 00:11:05.364 --> 00:11:08.968 They're looking at data sharing gene list. 00:11:09.035 --> 00:11:11.103 That's something I forgot to mention. 00:11:11.103 --> 00:11:17.309 Each of those programs are screening for slightly different lists of genes. 00:11:17.410 --> 00:11:18.811 Many are overlapping. 00:11:18.811 --> 00:11:21.047 Many, many, many are overlapping. 00:11:21.047 --> 00:11:26.252 But we have lists that range anywhere from 175 genes 00:11:26.252 --> 00:11:29.221 I believe all the way up to 400 genes. 00:11:29.422 --> 00:11:32.925 So again, there's a lot of difference 00:11:32.925 --> 00:11:36.629 in variation between the different projects. 00:11:36.696 --> 00:11:39.799 The consortium has over 200 members 00:11:39.799 --> 00:11:43.169 and I believe anyone can sign up. 00:11:43.235 --> 00:11:45.037 If you'd like to sign up to talk to me 00:11:45.037 --> 00:11:48.741 and we can just go and reach out to the executive director. 00:11:48.841 --> 00:11:51.811 But there are a number of different people with different backgrounds, 00:11:51.944 --> 00:11:55.881 including patient advocacy, including technology, medicine. 00:11:56.082 --> 00:12:00.286 So really it is a group of people who are interested in this work 00:12:00.486 --> 00:12:03.489 from different perspectives. 00:12:03.556 --> 00:12:05.958 And so this October 00:12:05.958 --> 00:12:09.361 there will be the third annual meeting of this group. 00:12:09.428 --> 00:12:14.433 And last year there were over 40 countries represented. 00:12:14.500 --> 00:12:17.169 Again, I’m sharing all of this to show just 00:12:17.169 --> 00:12:20.172 how much is happening in this space. 00:12:20.206 --> 00:12:24.009 And what I see as an opportunity for many people who maybe haven't 00:12:24.009 --> 00:12:28.447 been tapped into this conversation to be able to participate. 00:12:28.614 --> 00:12:32.585 So in October, New York, if you’re able to go, I highly encourage 00:12:32.585 --> 00:12:37.189 you to check it out so that this group 00:12:37.289 --> 00:12:40.392 who are maybe very excited about the concept and the projects 00:12:40.392 --> 00:12:41.827 that are taking place 00:12:41.827 --> 00:12:49.268 can hear from people who are on the ground and doing that real work with families. 00:12:49.335 --> 00:12:52.037 So why does this matter? 00:12:52.037 --> 00:12:56.342 This is something that has been spoken about as coming in the future. 00:12:56.342 --> 00:12:59.211 One day maybe we will do this. 00:12:59.211 --> 00:13:01.213 And as you can see, it is happening. 00:13:01.213 --> 00:13:07.019 And even though, yes, much of this is happening under the lens of research, 00:13:07.086 --> 00:13:10.656 it is very real for those families who are going through it, 00:13:10.723 --> 00:13:14.193 who may think, I'm just participating, this may be interesting. 00:13:14.193 --> 00:13:18.631 And they may get information they weren’t anticipating. 00:13:18.631 --> 00:13:21.100 So often we focus on technology 00:13:21.100 --> 00:13:24.870 and what's new there and what's that data look like. 00:13:24.937 --> 00:13:28.741 And then later we say, wait, but what about the care 00:13:28.808 --> 00:13:29.909 is going to come along? 00:13:29.909 --> 00:13:33.712 What about this being the start of a journey for our family? 00:13:33.813 --> 00:13:37.817 You know, and that's something that this community here in this room does so 00:13:37.817 --> 00:13:43.722 well in terms of really integrating not just identification and detection, 00:13:43.722 --> 00:13:47.526 but really what is that ongoing story for that family 00:13:47.593 --> 00:13:52.198 and the support that everyone will really need? 00:13:52.264 --> 00:13:53.766 And then also, 00:13:53.766 --> 00:13:58.737 there's been a lot of this discussion around rare diseases, but 00:13:58.804 --> 00:14:02.107 if we're going to start sequencing the whole genome, 00:14:02.174 --> 00:14:03.843 especially in newborns, it's 00:14:03.843 --> 00:14:07.713 not just going to be about rare diseases or however you classify that. 00:14:07.780 --> 00:14:10.749 It will be what is in there, what we can find out. 00:14:10.749 --> 00:14:14.053 So again, really expanding that idea of who 00:14:14.086 --> 00:14:19.124 this may have an impact on. 00:14:19.225 --> 00:14:20.059 So with that, 00:14:20.059 --> 00:14:27.700 I will move over to the panel part of the presentation. 00:14:27.800 --> 00:14:30.803 And we are joined by two people who really don't 00:14:30.803 --> 00:14:34.540 need an introduction that I'm sure many of you know. 00:14:34.540 --> 00:14:39.979 But I would love for you both to introduce yourselves 00:14:40.179 --> 00:14:44.216 through the lens of the question and 00:14:44.283 --> 00:14:47.052 when did you first hear about genomic sequencing, 00:14:47.052 --> 00:14:51.190 particularly when thinking about it with newborns? 00:14:51.257 --> 00:14:53.192 And just what was the context of that? 00:14:53.192 --> 00:15:03.402 And how that relates to the things that you do? 00:15:03.469 --> 00:15:04.236 I'm Michelle John. 00:15:04.236 --> 00:15:05.905 I am a parent of three. 00:15:05.905 --> 00:15:08.040 My oldest is ten, he is deaf blind plus. 00:15:08.040 --> 00:15:10.509 Just to give you a little bit of background. 00:15:10.509 --> 00:15:12.878 I'm also the president from my hands and voices. 00:15:12.878 --> 00:15:17.950 Under the guise of hands and voices, I had an opportunity 00:15:18.117 --> 00:15:22.154 to attend the Association of Public Health Laboratories 00:15:22.254 --> 00:15:28.160 Newborn Screening Symposium in 2022, and I thought 00:15:28.160 --> 00:15:31.563 I was just going to represent the people who have the hearing stuff. 00:15:31.630 --> 00:15:34.199 And I was floored at 00:15:34.199 --> 00:15:37.770 what I've learned regarding 00:15:37.836 --> 00:15:41.273 newborns screening, specifically the genome sequencing. 00:15:41.307 --> 00:15:43.175 I had no idea it existed. 00:15:43.175 --> 00:15:44.443 I had never heard of it. 00:15:44.443 --> 00:15:46.412 I had no idea what anyone was talking about. 00:15:46.412 --> 00:15:50.716 And the more presentations I attended and the more plenaries 00:15:50.716 --> 00:15:54.386 and keynotes that I attended, I realized this is huge. 00:15:54.453 --> 00:15:55.621 This is important. 00:15:55.621 --> 00:15:57.990 I have no idea what to make of this. 00:15:57.990 --> 00:16:03.262 And people are talking at me about ethics and legalizing this and what about this? 00:16:03.295 --> 00:16:06.231 And I was just stunned. 00:16:06.231 --> 00:16:10.469 And I realized, given that I'm pretty deep into my EHDI system 00:16:10.469 --> 00:16:14.239 and I don't know, the average parent may not know. 00:16:14.340 --> 00:16:17.343 So that was really a big shock for me. 00:16:17.343 --> 00:16:21.080 So I did not know until then. 00:16:21.080 --> 00:16:25.384 Good afternoon, everybody. I'm Marcia Fort 00:16:25.451 --> 00:16:27.252 and I am - I 00:16:27.252 --> 00:16:31.223 serve as the North Carolina EHDI Coordinator. 00:16:31.223 --> 00:16:35.594 But as part of my job, I also 00:16:35.694 --> 00:16:38.864 supervise and manage the newborn 00:16:38.864 --> 00:16:42.901 screening follow up team across North Carolina. 00:16:43.068 --> 00:16:46.972 So as Natasha mentioned earlier, North 00:16:46.972 --> 00:16:50.776 Carolina is the home to one of these projects, Early Check. 00:16:50.876 --> 00:16:54.380 So if I were just 00:16:54.380 --> 00:16:59.151 wearing my EHDI coordinator hat, 00:16:59.251 --> 00:17:04.223 I too would not have known much about this. 00:17:04.323 --> 00:17:10.662 I think because of my connection to the metabolic screening follow up team 00:17:10.729 --> 00:17:15.167 and our state lab and the fact that early check is a program 00:17:15.167 --> 00:17:21.140 that existed in North Carolina even before we began the sequencing 00:17:21.140 --> 00:17:25.377 part of the project, Early Check has been in North Carolina 00:17:25.377 --> 00:17:30.416 as an option and additional screening 00:17:30.482 --> 00:17:35.487 for families to choose for conditions that are not on the list yet. 00:17:35.554 --> 00:17:38.090 And so we've had that early check process. 00:17:38.090 --> 00:17:40.959 So when sequencing came along, 00:17:40.959 --> 00:17:43.929 I was involved in some of those discussions 00:17:43.929 --> 00:17:47.800 as we got that up and off the ground, but 00:17:47.800 --> 00:17:53.972 I may be somewhat unique in that in that I am tied to the programs. 00:17:54.039 --> 00:17:56.975 Thank you for that and thank you for noting that difference 00:17:56.975 --> 00:18:01.146 with the early check as I mentioned, I lumped all of those programs together, 00:18:01.146 --> 00:18:05.317 but they each are run differently, have slightly different starts. 00:18:05.317 --> 00:18:08.320 So there is definitely a variation. 00:18:08.320 --> 00:18:12.357 So I am going to ask the audience 00:18:12.424 --> 00:18:13.659 to pay attention now. 00:18:13.659 --> 00:18:19.231 But before today and this session, how many of you have heard 00:18:19.231 --> 00:18:23.769 about whole genome sequencing and just raise your hands. 00:18:23.836 --> 00:18:26.505 A good number. 00:18:26.505 --> 00:18:29.208 And out of this group 00:18:29.208 --> 00:18:33.112 how many of you had heard about it within the context of newborns? 00:18:33.112 --> 00:18:37.182 Almost the same, but still fewer. 00:18:37.249 --> 00:18:41.019 So I think that was about half. 00:18:41.019 --> 00:18:45.224 Half the room maybe said that they had heard of genome 00:18:45.224 --> 00:18:50.395 sequencing before this session and then about two thirds of that half - 00:18:50.395 --> 00:18:56.268 I'm not going to do that math - had heard about it in the context of newborns. 00:18:56.268 --> 00:19:00.272 So, that's really helpful. 00:19:00.339 --> 00:19:03.208 Next question for our esteemed panel. 00:19:03.208 --> 00:19:08.480 Here is what are some - what can groups who are doing this work 00:19:08.614 --> 00:19:11.617 learn from the work that EHDI has already done? 00:19:11.617 --> 00:19:15.521 So often we see new projects and say, That's great 00:19:15.621 --> 00:19:19.825 and let's make sure we're not reinventing the wheel. 00:19:19.892 --> 00:19:23.962 And even just recently, I learned about the work that and EHDI does 00:19:23.962 --> 00:19:28.300 when thinking about follow up for risk assessment. 00:19:28.300 --> 00:19:29.902 So increased risk, that's been a big discussion 00:19:29.902 --> 00:19:35.040 when it comes to whole genome, but it may not exactly be a diagnosis. 00:19:35.174 --> 00:19:39.077 It may be a risk that increases the risk that we're noting. 00:19:39.178 --> 00:19:41.079 How do we communicate that? 00:19:41.079 --> 00:19:42.247 So that's just one example. 00:19:42.247 --> 00:19:43.649 But you know, 00:19:43.649 --> 00:19:47.286 what can these groups who are doing this work learn from all the 00:19:47.286 --> 00:19:50.055 great work that EHDI does? 00:19:50.155 --> 00:19:51.490 Yeah, that's a great question. 00:19:51.490 --> 00:19:54.126 I mean, as a family perspective 00:19:54.126 --> 00:19:59.064 and certainly knowing enough of the history of various states, EHDI programs, 00:19:59.131 --> 00:20:03.902 family involvement and engagement at the start is going to be really critical. 00:20:03.902 --> 00:20:08.240 We need to be at the proverbial table, considered a participant 00:20:08.240 --> 00:20:10.976 and or a stakeholder, have whatever term you prefer. 00:20:10.976 --> 00:20:15.447 I think it's really critical that we have these discussions 00:20:15.447 --> 00:20:19.251 and being proactive versus reactive to families, 00:20:19.351 --> 00:20:21.486 they're going to need a lot of information. 00:20:21.486 --> 00:20:23.255 When is that information given? 00:20:23.255 --> 00:20:24.489 How is it given? 00:20:24.489 --> 00:20:28.026 How do we start awareness and move to understanding 00:20:28.093 --> 00:20:31.396 and how do we ensure that families’ stories 00:20:31.496 --> 00:20:35.534 and their opinions are counted 00:20:35.634 --> 00:20:37.869 and taken seriously 00:20:37.869 --> 00:20:41.940 and that is something that has been a journey, I think, for the EHDI program 00:20:41.940 --> 00:20:45.210 and even for this conference where at the beginning there were no families 00:20:45.210 --> 00:20:48.180 and now there's a little more than 100 of us here 00:20:48.247 --> 00:20:50.015 and takes a lot for us to get here. 00:20:50.015 --> 00:20:54.653 So how do we make those meetings accessible? 00:20:54.753 --> 00:20:58.023 I think really family engagement is a pretty critical thing 00:20:58.023 --> 00:21:04.563 that they don't need to reinvent and pretend that they introduced it. 00:21:04.630 --> 00:21:05.063 I'm going to 00:21:05.063 --> 00:21:09.001 second all of what Michelle said about family engagement. 00:21:09.034 --> 00:21:12.037 It really is key right from the start. 00:21:12.037 --> 00:21:14.873 Other lessons like Natasha mentioned, 00:21:14.873 --> 00:21:18.143 we as EHDI, as the EHDI system of care 00:21:18.143 --> 00:21:21.513 already have some experience 00:21:21.580 --> 00:21:24.149 collecting risk factors, collecting data 00:21:24.149 --> 00:21:28.720 about risk factors and establishing some 00:21:28.787 --> 00:21:31.823 at risk follow up procedures, 00:21:31.823 --> 00:21:36.161 and then processes within our states. 00:21:36.228 --> 00:21:40.299 Our expertise with that is at varying levels, 00:21:40.299 --> 00:21:43.969 but it is not a foreign concept 00:21:44.069 --> 00:21:48.173 to any system of care to look at children 00:21:48.240 --> 00:21:53.912 and their families who are at risk for developing something later. 00:21:53.912 --> 00:21:58.116 There are some really solid lessons I think, that can be learned 00:21:58.216 --> 00:21:59.851 from what we have. 00:21:59.851 --> 00:22:03.789 We've also fairly recently 00:22:03.789 --> 00:22:09.127 entered into the sea of the CCMV, the 00:22:09.194 --> 00:22:12.497 screening and follow up and risk there. 00:22:12.497 --> 00:22:18.003 So we have more lessons to contribute. 00:22:18.070 --> 00:22:21.606 And I think just the 00:22:21.673 --> 00:22:27.412 connections that he has made with not only family engagement but 00:22:27.412 --> 00:22:30.949 also with the education system 00:22:31.049 --> 00:22:34.519 and Part C programs 00:22:34.553 --> 00:22:38.223 and the vision programs 00:22:38.256 --> 00:22:42.661 and hearing programs and some of those other. 00:22:42.661 --> 00:22:46.264 I think we have a great deal of experience 00:22:46.264 --> 00:22:50.302 with EHDI bringing 00:22:50.402 --> 00:22:52.871 as many of the partners 00:22:52.871 --> 00:22:57.876 who need to be in the conversation that we can possibly think of to the table 00:22:57.943 --> 00:23:01.613 at the beginning in the planning process, 00:23:01.680 --> 00:23:05.050 thinking about the risks 00:23:05.150 --> 00:23:08.754 and the benefits of whatever is happening 00:23:08.820 --> 00:23:12.691 and really taking into consideration the effects 00:23:12.758 --> 00:23:15.660 on the professional system, 00:23:15.660 --> 00:23:19.731 thinking about the effects that that may 00:23:19.831 --> 00:23:22.801 fall on payment systems, 00:23:23.034 --> 00:23:28.306 thinking about where funding may or may not be, the 00:23:28.407 --> 00:23:32.978 legal implications, and data sharing. 00:23:33.044 --> 00:23:36.982 We've done so much work in EHDI systems around all of that. 00:23:37.015 --> 00:23:42.320 And I think being at the table as this kind of enters 00:23:42.320 --> 00:23:48.026 and becomes maybe at some point standard of care 00:23:48.093 --> 00:23:50.228 is really key for us. 00:23:50.228 --> 00:23:52.130 Thank you. 00:23:52.130 --> 00:23:55.267 And so I do have some closing slides, but before we go to 00:23:55.267 --> 00:23:59.104 that would be great to see if there are any questions or comments, 00:23:59.104 --> 00:24:03.475 even comments from the audience. 00:24:03.542 --> 00:24:05.944 So I see one hand. 00:24:05.944 --> 00:24:08.180 So Natasha? Yes? 00:24:08.180 --> 00:24:11.550 So that we can include our colleagues who use American Sign Language. 00:24:11.550 --> 00:24:15.353 If you have a question or comment will you come up here 00:24:15.420 --> 00:24:18.123 so that the interpreters can interpret for that? 00:24:18.123 --> 00:24:19.391 Okay, that's okay. 00:24:19.391 --> 00:24:23.128 So if you're on this side of the room, come over here 00:24:23.195 --> 00:24:25.797 and then if you need ASL interpreting. 00:24:25.797 --> 00:25:07.439 Well, you know, 00:25:07.506 --> 00:25:11.042 So my question is, 00:25:11.109 --> 00:25:15.447 so we're in the middle of this process right? 00:25:15.514 --> 00:25:18.517 Which I get, you know, we're not there yet, but we're getting there. 00:25:18.517 --> 00:25:28.860 My question is how 00:25:28.927 --> 00:25:32.497 does this not cross the line into eugenics? 00:25:32.497 --> 00:25:34.533 This is a razor's edge that we're walking on. 00:25:34.533 --> 00:25:39.204 And I just want to be sure that we don't cross that line 00:25:39.271 --> 00:25:43.008 and that we don't fall into what I just mentioned, eugenics. 00:25:43.008 --> 00:25:47.312 So I'm just wondering how is this going to affect discrimination 00:25:47.312 --> 00:25:51.483 against people who are identified? 00:25:51.550 --> 00:25:52.884 How is this not going to turn 00:25:52.884 --> 00:25:56.221 into a purification scenario? 00:25:56.288 --> 00:25:58.957 So I'm just wondering, where is that line? 00:25:58.957 --> 00:26:02.360 Where are we in relation to it now and how do we keep from 00:26:02.360 --> 00:26:06.598 falling over the edge of the eugenics and I appreciate your response. 00:26:06.665 --> 00:26:08.233 And I appreciate the question. 00:26:08.233 --> 00:26:11.436 And as for me, others also 00:26:11.436 --> 00:26:18.910 appreciate that question. 00:26:19.010 --> 00:26:21.079 And so I appreciate that question, as I know 00:26:21.079 --> 00:26:25.183 many in the room also appreciate that question. 00:26:25.250 --> 00:26:29.054 And while I don't have a solid answer, 00:26:29.087 --> 00:26:33.391 I do know that we're not going to get to that answer if people are not 00:26:33.458 --> 00:26:36.962 brought into the conversations that are taking place. 00:26:37.028 --> 00:26:41.299 Again, this is why I thought it would be really important 00:26:41.299 --> 00:26:45.403 to have a panel like this, knowing that now for three years 00:26:45.403 --> 00:26:50.875 there have been people gathering and having these conferences on the topic. 00:26:50.942 --> 00:26:55.780 And I will say very little around patient experiences 00:26:55.780 --> 00:26:59.684 and I would say even public experiences and public perspectives. 00:26:59.784 --> 00:27:02.420 Usually it was just me on a panel, 00:27:02.420 --> 00:27:05.624 one panel just and that's not enough. 00:27:05.724 --> 00:27:08.193 And so I think this is why bringing 00:27:08.193 --> 00:27:11.496 this topic to this community and many others, 00:27:11.730 --> 00:27:17.836 to be able to raise those questions and to help define what is that line. 00:27:17.936 --> 00:27:20.639 I think that we can't 00:27:20.639 --> 00:27:25.510 wait to see how it all gets figured out because then then you're looking back 00:27:25.510 --> 00:27:29.114 and then you're saying, I guess we should I guess we should have 00:27:29.214 --> 00:27:32.550 instead, let's say, let's really co-create this together. 00:27:32.651 --> 00:27:37.322 Let’s ask the hard questions now, as opposed to maybe regret 00:27:37.322 --> 00:27:39.391 not asking them beforehand 00:27:39.391 --> 00:27:43.194 and really painting the picture of what does this look like done well? 00:27:43.194 --> 00:27:47.132 And what does it look like not done well, 00:27:47.198 --> 00:27:49.701 but I think we can't hide from those questions. 00:27:49.701 --> 00:27:51.603 We have to be able to bring them up. 00:27:51.603 --> 00:27:56.174 And so often it really is families and people who work with families 00:27:56.374 --> 00:28:00.779 who tend to be not just the ones to raise those questions, but to say yes, 00:28:00.812 --> 00:28:01.246 yes, yes. 00:28:01.246 --> 00:28:03.782 We've asked that question now for three years. 00:28:03.782 --> 00:28:05.717 Where are the answers? 00:28:05.817 --> 00:28:07.919 How do we work towards those answers? 00:28:07.919 --> 00:28:13.291 So again, that isn’t a set in stone answer, but I think that is a call 00:28:13.291 --> 00:28:17.929 to more involvement and more engagement from a range of different perspectives. 00:28:18.063 --> 00:28:19.998 But I don't know. 00:28:19.998 --> 00:28:21.266 I do have a follow up. 00:28:21.266 --> 00:28:25.203 I thought a couple of things, and it's going to be, again, really 00:28:25.203 --> 00:28:29.207 critical to have all vested parties available to have input. 00:28:29.307 --> 00:28:33.211 This is going to include self-advocates, advocacy groups, families. 00:28:33.211 --> 00:28:36.014 You know, again, we don't know what groups know what, 00:28:36.014 --> 00:28:39.818 if you know of an advocacy group of which you are involved, with 00:28:39.818 --> 00:28:43.755 or could reach out to at some point, they need to start maybe having 00:28:43.855 --> 00:28:47.358 statements, public statements to put out. 00:28:47.358 --> 00:28:52.263 I also think this is really critical conversations. 00:28:52.363 --> 00:28:56.167 What is the end goal of whole genome sequencing? 00:28:56.401 --> 00:29:00.438 That is possibly going to guide what this is used for. 00:29:00.638 --> 00:29:04.809 And the answer may be different project or project, but this is going to be 00:29:04.876 --> 00:29:06.411 those huge conversations. 00:29:06.411 --> 00:29:08.680 What is the end goal of this? Is it to prevent? 00:29:08.680 --> 00:29:13.017 Is it to, you know, assist, to save? 00:29:13.017 --> 00:29:15.420 Is it, as you said, you know, eugenics? 00:29:15.420 --> 00:29:17.388 So we just don't know this. 00:29:17.388 --> 00:29:20.925 It's so big around legislation 00:29:20.925 --> 00:29:24.662 and governmental issues and privacy issues and opting in and opting out. 00:29:24.662 --> 00:29:27.932 And how long do people hold on to this and what do you do with it, 00:29:27.932 --> 00:29:29.601 and do you really get rid of it? 00:29:29.601 --> 00:29:33.972 And I think it is so complex and multi-layered 00:29:34.038 --> 00:29:38.042 and invested partners have to be involved in every step of the way. 00:29:38.276 --> 00:29:39.744 And I do feel like a broken record 00:29:39.744 --> 00:29:44.616 but it truly is proactive versus reactive, much to what Natasha just said. 00:29:44.616 --> 00:29:48.486 We all must be involved now, not later, 00:29:48.486 --> 00:29:53.892 in order to prevent this very real concern. 00:29:53.958 --> 00:29:55.660 And I just wanted to add one thing to that. 00:29:55.660 --> 00:29:58.663 That's one reason why and the part 00:29:58.763 --> 00:30:02.934 that Mariana did so well, there is a focus on terminology, right? 00:30:03.168 --> 00:30:07.172 So it can be so easy to use words 00:30:07.172 --> 00:30:10.475 interchangeably that don't necessarily mean the same things. 00:30:10.475 --> 00:30:13.478 We may be saying, our whole genome, whole genome, 00:30:13.711 --> 00:30:16.881 and then sometimes switching to early identification, well, 00:30:16.881 --> 00:30:19.884 those aren't necessarily always one in the same. 00:30:20.018 --> 00:30:23.221 And so again, really having to be very thoughtful 00:30:23.221 --> 00:30:26.858 about what we're saying and what's the meaning behind it. 00:30:26.858 --> 00:30:31.629 And again, oftentimes it is when someone who hasn't been 00:30:31.629 --> 00:30:36.201 in the conversation for a very long time, you know, fresh eyes can oftentimes 00:30:36.201 --> 00:30:40.371 see things that groups kind of have just taken for granted. 00:30:40.371 --> 00:30:50.915 So just wanted to add that. 00:30:50.982 --> 00:30:53.017 I have another question. 00:30:53.017 --> 00:30:56.921 So as a public health nurse, I work in newborn screening 00:30:56.988 --> 00:31:00.525 and we blood spot as well as the EHDI space. 00:31:00.625 --> 00:31:02.126 Sequencing has been prominent 00:31:02.126 --> 00:31:05.463 with blood spot for several years, and significant concerns, 00:31:05.463 --> 00:31:09.601 some of which have been discussed here have come up regarding privacy, 00:31:09.601 --> 00:31:15.240 consent, ethics, long term impacts such as health insurance, life insurance. 00:31:15.306 --> 00:31:18.977 While it potentially creates the diagnostic odyssey, 00:31:19.077 --> 00:31:23.381 the variants of uncertain significance can add additional diagnostic testing, 00:31:23.448 --> 00:31:27.118 physical burden and significant anxiety for families. 00:31:27.185 --> 00:31:31.322 How do we balance these risks with the potential benefits? 00:31:31.389 --> 00:31:37.061 And do you see genomic sequencing and newborn screening from private testing 00:31:37.128 --> 00:31:43.635 before potentially moving into the public health arena. 00:31:43.735 --> 00:31:45.870 I’m feeling 00:31:45.870 --> 00:31:48.840 you're all going to get sick of me saying that's a great question 00:31:48.840 --> 00:31:51.142 and that's the question we need to be asking. 00:31:51.142 --> 00:31:54.479 But it's the truth. Right? And, 00:31:54.545 --> 00:31:54.879 you know, 00:31:54.879 --> 00:31:59.817 there is a lot a lot in that and that in that question. 00:31:59.884 --> 00:32:02.086 I think that there are certain 00:32:02.086 --> 00:32:06.758 groups or even, say, silos who are having these conversations in terms of 00:32:06.925 --> 00:32:09.460 what does this mean from the laboratory perspective, 00:32:09.460 --> 00:32:12.630 What does it mean to be changing technology at that level? 00:32:12.630 --> 00:32:13.831 And that's important. 00:32:13.831 --> 00:32:19.137 That is but that is only one slice of the overarching conversation. 00:32:19.203 --> 00:32:22.774 We have to also remember, and when we say sequencing, that can be 00:32:22.774 --> 00:32:26.010 in a lot of different things, that could mean whole genome sequencing, 00:32:26.010 --> 00:32:29.480 which is what Mariana, the video was discussing. 00:32:29.614 --> 00:32:31.416 But it can also mean sequencing 00:32:31.416 --> 00:32:35.520 one gene for one particular condition or set of genes for that condition. 00:32:35.520 --> 00:32:37.622 Right? So there is a difference there. 00:32:37.622 --> 00:32:41.492 And on the one hand that's nuance, but on the other hand 00:32:41.492 --> 00:32:44.896 it's really important to call out that very often 00:32:44.896 --> 00:32:48.633 in the broader discussions, it's all just lumped under sequencing 00:32:48.866 --> 00:32:53.037 or next generation sequencing, which makes this even more complicated. 00:32:53.104 --> 00:32:56.874 Again, it's one of the reasons why I think having different voices 00:32:56.874 --> 00:33:00.011 or new voices in May, all those conversations 00:33:00.044 --> 00:33:04.282 that say is really helpful because it is those fresh eyes who say, wait, excuse me, 00:33:04.282 --> 00:33:05.216 what do you mean by that? 00:33:05.216 --> 00:33:09.554 And then someone says it, and then you noticed, I didn't realize they meant that. 00:33:09.554 --> 00:33:10.154 I thought they meant 00:33:10.154 --> 00:33:14.559 what was in my mind again, when we're at the beginning of this work. 00:33:14.559 --> 00:33:18.997 So it's really important to have those 00:33:19.063 --> 00:33:21.632 not checks and balances, but those opportunities 00:33:21.632 --> 00:33:26.170 to reaffirm what we really mean and to track where we evolve. 00:33:26.170 --> 00:33:30.241 Whether that's language, but also philosophy and perspective of 00:33:30.241 --> 00:33:35.880 what is the end goal, what really matters. 00:33:35.947 --> 00:33:39.817 Yes, I agree, and I love that question, 00:33:39.884 --> 00:33:43.287 I can say from my perspective in North Carolina, I'm 00:33:43.287 --> 00:33:46.724 very familiar with the things that are happening with Early Check. 00:33:46.724 --> 00:33:51.295 But and I also have a public health genetic counselor 00:33:51.295 --> 00:33:55.533 that serves our entire state that is in my unit, 00:33:55.533 --> 00:34:00.405 and she will bring research articles or published articles about this. 00:34:00.405 --> 00:34:02.140 To me, 00:34:02.140 --> 00:34:05.143 it is in the early stages 00:34:05.276 --> 00:34:08.513 and it's I think 00:34:08.613 --> 00:34:10.548 maybe the biggest point we want to make 00:34:10.548 --> 00:34:15.420 is that we want to bring all these voices to the table 00:34:15.486 --> 00:34:17.188 at this time 00:34:17.188 --> 00:34:21.959 when it is in its formative, in its development, 00:34:22.026 --> 00:34:26.631 so that all of the considerations, all of the concerns, 00:34:26.631 --> 00:34:32.370 all of the questions that we all get put on the table 00:34:32.370 --> 00:34:36.641 before we get policies or regulations 00:34:36.641 --> 00:34:39.644 that push us down a single path. 00:34:39.644 --> 00:34:42.447 And I think this is a really unique opportunity 00:34:42.447 --> 00:34:47.552 and I am so grateful for Natasha bringing this to this meeting. 00:34:47.618 --> 00:34:52.790 We're just one community that should be involved in this 00:34:52.890 --> 00:34:57.261 in North Carolina, we're sequencing over 200 00:34:57.361 --> 00:35:01.566 genes, so diabetes being one of them. 00:35:01.632 --> 00:35:05.369 And there are a lot of communities like us that are having 00:35:05.369 --> 00:35:10.241 the same kinds of questions and we want to bring as much information 00:35:10.341 --> 00:35:15.680 And as many of these perspectives including, 00:35:15.780 --> 00:35:21.219 almost at the top, probably at the top, the concerns of families. 00:35:21.285 --> 00:35:25.957 If we're doing newborn sequencing 00:35:26.023 --> 00:35:29.026 to the conversation early. 00:35:29.093 --> 00:35:31.562 And I think that may be 00:35:31.562 --> 00:35:35.633 kind of the point we wanted to make with this presentation today was 00:35:35.833 --> 00:35:41.172 this is an opportunity that's in front of us now 00:35:41.239 --> 00:35:43.407 at this stage where we can make 00:35:43.407 --> 00:35:46.978 a difference and 00:35:47.044 --> 00:35:48.546 reach out and learn. 00:35:48.546 --> 00:35:54.318 It's a complicated topic, but reach out, learn, participate 00:35:54.418 --> 00:35:59.157 and see where we can fit in. 00:35:59.223 --> 00:36:01.425 I can't think of a better. 00:36:01.425 --> 00:36:05.129 Is there another question? 00:36:05.163 --> 00:36:09.400 I mean, I just have one thing to say, which is that 00:36:09.467 --> 00:36:14.839 if disability is accepted more in our society, 00:36:14.939 --> 00:36:18.676 then we would have the support of the nation 00:36:18.676 --> 00:36:21.679 from so many different perspectives, 00:36:21.846 --> 00:36:24.549 from deafness, from Barre 00:36:24.549 --> 00:36:27.552 syndromes, from anything, to say 00:36:27.718 --> 00:36:31.556 It doesn't matter what is found. 00:36:31.622 --> 00:36:36.227 That person deserves services, that person deserves to be cared for. 00:36:36.327 --> 00:36:41.332 And so if we are starting that change in attitude now 00:36:41.432 --> 00:36:45.036 that when the insurance companies get that information, 00:36:45.102 --> 00:36:45.937 they can't hold it 00:36:45.937 --> 00:36:49.874 against the patients, they can't withhold services 00:36:49.974 --> 00:36:53.578 that we're not trying to [inaudible] race, identities. 00:36:53.644 --> 00:36:57.782 And so if we are not starting that now, we're behind. 00:36:57.848 --> 00:37:06.357 And I think that that 00:37:06.424 --> 00:37:06.591 - [Applause] 00:37:06.591 --> 00:37:10.728 Thank you so much for saying that, because that is really 00:37:10.828 --> 00:37:14.565 what this conversation should center around. 00:37:14.665 --> 00:37:19.770 You know, people who know me and work with me know I’ll stay on the technology 00:37:19.837 --> 00:37:22.473 and I don't even upgrade my iPhone. 00:37:22.473 --> 00:37:25.343 New technology. Great. That's nice. 00:37:25.343 --> 00:37:29.013 But it's really about how are we truly making the lives 00:37:29.013 --> 00:37:33.884 of individuals and families better and how are we tracking that 00:37:33.985 --> 00:37:35.853 and how are we holding ourselves 00:37:35.853 --> 00:37:41.158 and our communities and systems accountable to that? 00:37:41.158 --> 00:37:45.396 Not just more data, not just a faster way to do something, 00:37:45.463 --> 00:37:48.933 but really that care and consideration. 00:37:49.000 --> 00:37:51.402 And so with that, I will close out this panel. 00:37:51.402 --> 00:37:54.772 Thank you so much to both of you for being here sharing your inputs, 00:37:54.772 --> 00:37:54.805 and to the audience. [Applause]