Hello, everyone. And thank you for joining today’s webinar on Improving the Diagnostic Odyssey for Rare Disease Patients. I’m Sarah Dash, president and CEO of the Alliance for Health Policy. For those who are not familiar with the Alliance, welcome. We are a non partisan resource for the policy community, dedicated to advancing knowledge and understanding of health policy issues. And today, we will be delving into a topic that is often forgotten in Health Policy Conversations, and that is the topic of rare disease. And specifically, we’ll be looking at the journey from illness to diagnosis of rare Disease and the name Odyssey. I think we’ll see in this webinar why it’s called A Diagnostic Odyssey.
So, the Alliance gratefully acknowledges the support of Aleksey on pharmaceuticals for supporting today’s webinar. And, we have some really fantastic speakers today who are going to help us understand this topic better.
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So here with me today to speak about rare diseases and how we can improve the diagnostic odyssey, the time from symptom onset to a final diagnosis is a truly esteemed group of experts.
First, we’re so pleased to be joined by doctor Matthew Might, who serves as the director of the Hugh Kaul Precision Medicine Institute at the University of Alabama Birmingham At UAB. Doctor Might research focuses on precedent, precision prevention, diagnosis, and therapeutics across rare disease, cancer, and comment or chronic conditions. Doctor mites Journey from Computer Science to Medicine was inspired by his son Bertrand. In 20 12, Bertrand became the first patient in the world to be diagnosed with N G L Y one Deficiency. And Dr. Might has a remarkable story that he will be sharing with us today. Next, I’m pleased to introduce doctor Stephen Kingsmore, who is president and CEO of the Ready Children’s Institute for Genomic Medicine. Previously, Doctor King’s more served as the D Lions Missouri Endowed Chair in Genomic Medicine at the University of Missouri, Kansas, Kansas City, excuse me, School of Medicine, and director of the Center of Pediatric Genomic Medicine at Children’s Mercy Hospital in Kansas City.
We’re delighted to also be joined by Linda Goler Blount, President, and CEO of the Black Women’s Health Imperative. Previously, Linda served as Vice President for the United Way of Greater Atlanta, where she led the effort to eliminate inequalities in health, income, education, and housing through place and population based work. Linda also serves on the steering committee for the Rare Disease Diversity Coalition organized by the Black Women’s Health Imperative, thrilled to have you here.
And last but certainly not least, I’m pleased to introduce Nelly Ganesan, a principal at AValere Health where she advises clients on the implications of quality related health care policies including but not limited to public and private quality reporting programs, value based care and payment and delivery models. Prior to joining Avalere, Nelly spent six years at the Institute for Healthcare Improvement focused on population health and hospital based quality improvement. So with those introductions, we’re going to launch today’s conversation by hearing from doctor Matt Might, who is going to share his perspective on why this topic is so important, challenges that patients and caregivers face throughout their diagnostic journey and his own experience. Matt, thank you so much for joining us today.
Thank you so much, Sarah, for having me.
And I have far more than even I could sit.
And if I had a full hour, I couldn’t tell you everything there is to know about what it’s like to be on the caregiver side when it comes to diagnostic odysseys.
So, I’ll try to give you a sense of why this is so important, and what what this is like for me, and maybe even sort of start board and jump backwards in time. So, today, I run this research institute at UAB, focused on finding therapies for folks with ultra rare genetic diseases and other diseases, too, but that’s really the bulk of what we do. And the reason I do this at all and because, you know, 13 years ago, I had a child that launched onto a diagnostic odyssey and pushed me from a path, and, you know, being a Professor of Computer Science into ultimately academic medicine.
And the first part of that was what we call the diagnostic odyssey. When my son Bertrand was born. We had no clue what was wrong. It was clear something very wrong that we had no clue what was actually wrong.
You know, we didn’t know why seizures. We didn’t know why he had developmental delay. We didn’t know why hit a movement disorder. We didn’t know why, for some reason, he couldn’t cry tears.
It was just incredibly perplexing, and what happens in that state when you don’t know which what your child had is you start bouncing around between like going to hop, we call it hot potato, from specialists to specialists, never quite getting The right answer is always being told, well, I don’t really deal with that, or from one organ system.
Well, we know the liver is involved, but you need to go look at popular neurology because the brain and, you know, when he was born technologies to bring a swift into a diagnostic odyssey didn’t even exist. So. You couldn’t just go get an exome sequencing or genome sequencing, You know, look at the entirety of the human genome, in one fell swoop, and say, Oh, this looks like it might be the problem. We had to wait for that technology to come.
And the good news is, it actually. Did.
You know, So, I think, by the time you two years old, around 20, 2009, a team, a geneticist we’ve been working with at Duke University reached out and said, Hey, there’s this new technology. I know you’ve been waiting for genome sequencing, but we think there’s a better way to do this through frequent thing where you can just look at, you know, the small fraction of the human genome. That actually counts. Or, we think, mostly counts when it comes to genetic disease and faster and cheaper. And, we can cover it as part of this new research study, to see if this will actually work, and people. And so, we did that, and it actually worked.
So, looking at, you know, 2% of Bertrand genome that actually encoded proteins, they discovered that he had, in fact, inherited, two mutation, one for me, one from his mom, that a gene called NGL Y one.
And when they look at any mutation, quite clearly wipes out the function of the gene. So this makes it very suspicious for potential cause for all the problems.
There’s just one issue here, no one’s ever seen it caused by the chamber for there is no disease associated with the team, we don’t know what this, if this is really it, so we’ve got a little more homework to do. They said that this is what it is and Bertrand is the very first patient in the entire world.
And back then, you know, that kind of a finding sort of a remarkable and novel to think that you could find a brand new disease.
And what technology like exome and genome sequencing have done is they’ve made that’s actually a regular recurring. I’m, I’m in touch with several pair parents around the world now, where their child, with the first one, for their particular. there, there has been an explosion of entities discovery as a result of the technology, but back then, it was still a novel thing, and what did we do you, how do you even move forward?
And, you know, prior to that point, I remember, you know, it was all about figuring out how to get medical records between hospital, because there wasn’t a sort of know, sorta unified EHR, where you could actually easily export your records from one place to another. I remember you’re building my own medical records system by hand. So I an electronic medical records that I could put between physicians and send them password, the link for them to login. And now, suddenly the whole different ballgame. there wasn’t a specialist to go see anymore.
No one knew what this thing really knew what it was, but no one really had any expertise in it, and I realized right away that we had to develop the community.
So I turned to social media, and, and, again, it’s sort of the first symptoms, but what it now become very commonplace, I create a blog post that was designed to go viral and essentially find the other patient that didn’t know what they had with this disease.
The crazy thing is that it actually worked in the community did form around this brand-new disease and that push me further on this path and white, or I started focusing on first building community that doing the science, and then actually delving into daring to look for treatment for this Devastating Disease. Unfortunately, Bertrand passed away in October, just shy of 13 but not before many treatment had been discovered.
I think he was on three experimental treatment by the end of his life, Significantly extended the length, but most importantly, the quality of life, something that the other patient can now benefit from as well.
And yeah, I go back now. And I think about the very beginning when we were told that he had a life expectancy at most, three years, and he made it to 13, thanks to significant advances in diagnostics. And then similar advance and nano therapeutics.
And I hope you’re looking down at my day job is to do the science that will bring these advances. Both on the diagnostic and therapeutic side to more patients every single day.
But I will I’ll never forget how it began in the four years that it took to finally get to an answer. And, in some sense, the strangeness, but this isn’t more commonplace.
We’ve known how to do this for a very long time, how to sequence genome the next round.
And some can jump straight to the answer pretty patient. And yet, for some reason, this has not yet become an everyday practice whenever we suspect there to be a genetic disease.
With that, I’m happy to yield my time to the other panelists.
Thank you so much, Matt.
And I think on behalf of all of us, we can really express our condolences. And so, sorry, for bertrand’s loss and for everything that you went through. Really appreciate your being with us. And I am curious, you know, so much of what you said is, there’s threads between your own professional expertise that helped to move things along, that the newly developing technologies, you know, over, over the past 13 years.
And I’m just curious if you could, like, perhaps, just, What do you think has been the most most most promising advance from your perspective that you’ve seen, in terms of either technology or diagnosis, or speed to diagnosis that that might help other families dealing with similar issues?
Yeah, It’s a great question. I do think that exome sequencing really created a huge shift in the landscape for getting an answer for so many of these families.
Know that the success rate, even in the clinics where you’re looking at the most intractable diagnostic odyssey, that around 35 to 40%?
And it’s just, it’s ticking up over time, as we get better and better.
So you sort of know right at it, right out of the gate, that you’ve got to decent chance that bringing it into many diagnosed with just those technologies. Genome sequencing is a little bit better. It’d be better if we were better at understanding the rest of the human genome, but we’re still advancing there. But in terms of bang, for buck, exome sequencing, tremendous game changer, and has been for quite a while now, and bringing answers very quickly to families that desperately need them.
Great, and I know we’ll get into this. And maybe Stephen King’s Marvell will help tee this up for us as well, but for those who are totally new to this topic, exome sequencing. Is that something you can only get it certain academic medical centers like?
Where do people even begin to even know that that’s an option or something that they could or should look for if they’re having these mysterious symptoms?
Yeah. I wish it were sort of the first thing we went to anytime. There’s a genetic disorder. Unfortunately, what actually happens really depends on where you are, what your health provider is, what your, what your payer, who your payer is and what their policies are.
It’s not fingered practice right now to reimburse exome their genomes when it comes to suspected genetic diseases. In fact, paradoxical even though they may, they may do many, many around the genetic panels where they look at a handful of gene, sort of all of them trying to guess what the answer might be. And I figured out why we do that, because it can be very expensive, actually to keep guessing. But it is very patchwork.
It really depends where you are, here in the state of Alabama, were lucky that we have a state funded initiative, so that, for many of the patients that we think need it, you know, we can do it on sort of a research basis. There are certainly clinical providers for it as well. But, again, covering your reimbursement is inconsistent across the board when it comes to actually getting it’s not cheap either, you know, super expensive, but it can be a few thousand dollars to get these sorts of things done.
Well, thank you so much for that additional contexts, and again, for sharing your own journey. And so next for the additional clinical contexts, we’ll turn to doctor Stephen King’s more. Steven, welcome.
Thank you very much, Great to be here.
I am Stephen Kingsmore.
I’m the president and CEO of Rady Children’s Institute for Genomic Medicine, which is part of really Children’s Hospital in San Diego.
So let me go from maps, personal story to kind of framing this issue for you.
So first of all, we now know that there are more than 6000 genetic diseases. That’s a staggering number. It’s one of the triumphs of modern medicine.
Those number, that number, changes every day, just as Matt told you, with this, this number changes. every day. It goes up every day.
And so, each morning, we have to refresh our database, because there’s a new disease to deal with.
What we’ve discovered, which was completely unheard of, even 10 years ago, is that these diagnose these diseases are massively underdiagnosed.
And in fact, they underpin many of the most common presentations of disease.
So seizure disorder map talked about this, epileptic seizures.
There are over 1200 genetic diseases that can cause a child or an adult to have a seizure.
We used to call intellectual disability, mental retardation.
Thankfully, we’ve retired that term, but would you believe it, that this is not some kind of environmental thing?
There are 1700 genetic diseases, which we already know trigger intellectual disability, and you can see the other statistics there.
Now, each of these diseases is located in a place in the human genome. The genome is the code of life, the DNA code. We’re not very familiar with this because of covered.
We understand about variance, variance, or changes in the genetic code and was Covid because the disease to take a turn and be different, maybe to have different symptoms, such as our current delta of arm variant.
In the human genome, they trigger disease that the code for essential functions and when we have variants in the human genome, because genetic disease, the beautiful thing about genome sequencing is, it allows us, in one test to examine all 6000 genetic diseases at once.
So, one test for them, all one room, rules them all, one test, solves them all.
When Matt experienced his son’s illness, what I’m showing you is not possible.
He was one of the first to get the benefits of this type of technology.
Well, here’s the curve, which shows what’s happened since then, to the price of decoding the human genome, to the speed of decoding the human genome. And that’s why it’s a completely wrong concept to use the word diagnostic odyssey. It’s a wrong concept to think that adopt or shouldn’t be able to tell a parent within a day what’s wrong with their child.
We cannot decode the entire human genome and explore that across 6000 diseases in 13.5 hours.
It costs on a research basis $700, that’s less than a brain imaging study.
OK, I want to show you the evidence that underpins maps experience.
So this was funded by the National Institutes of Health, and that was one of the first randomized controlled trials to examine whether or not genome sequencing saves lives.
So on the left, we have 213 babies who are critically ill just like Matt. They’re in an intensive care unit.
We gave them genome sequencing. Not back then, it took a little bit longer than 2 or 3 days to get to a positive result.
As Matt said, between 20% and 60% get the diagnosis in two days.
Now, look at what’s downstream of that.
93% of those babies had clinical benefits that changed their, their treatment regimen. 39% had a better outcome, just like Matt said.
But let’s look at parents. We sometimes forget that we’re treating families, not individuals.
Moms and dads. 100% of the time said this is great. Thank you.
Now let us look at the negative tests. This is a big shocker. Genome not only saves lives when it’s positive, it also can do.
When it’s negative, 72% of the time doctor said, A negative genome sequencing test was beneficial. Why is that? Just because we’re really not diseases. That’s because the doctors can go look for something else. Maybe an intersection that’s causing this child’s symptoms.
Look what parents said, 96% of them said, hmm, hmm, hmm, having a negative genome test is great news. My baby has a healthy genome.
So, that was one study, but not around the world, in multiple sensors, multiple healthcare settings, in multiple payers and systems.
We’ve shown this again and again, and again, over the last decade.
There are now, as you can see, 23 published studies, and they all tell us the same thing, which is: the genome sequencing saves lives.
As Matt said, we have a policy problem.
We have a serious policy problem. This technology was invented in the United States.
Would you believe it Today?
It’s national policy to do this in children all over the United Kingdom that’s England, Wales, Northern Ireland, where I’m from. Scotland.
It’s also national policy in Australia.
We invented this, we have a legislator’s problem. We haven’t been able to.
In response to this, our center offers this to children Oliver, North America. And there are 70 children’s hospitals who send samples every morning, right, not their genome sequences being done at our Institute from 70 hospitals across North America.
one of those is really important. one of those studies is really important, is called Project Baby there, the California legislature said prove it.
We believe it to prove it shows this works in California. Next slide.
What we did really stunned them. We put genome sequencing into size, very different.
That’s, like, racial and socio economic regions of California.
All the way from R, R, bread, and butter place, where we grow crops to the most urban areas of California. Next slide.
We enroll 213, sorry, we enrolled 184 Medicaid babies to receive this, and two of them are shown there.
They both benefited from this, this, both as their lives, but what we saw on which really shocked the legislators was this, it’s money.
By decoding a baby’s genome, doing it as fast as you can possibly do it, you’re able to decrease the cost of care as is shown in that picture.
Next slide, in fact, we say, $20,000 for every child, we sequence. Sorry, I don’t have any more slides, So, what am I asking you? I’m asking you to do what’s being done right now in Michigan. And in California Governor of, California just signed a law July first saying, for Medicaid babies, this is not policy for California.
In Michigan, September first, there will be a policy which says, this is normative.
We’re Michigan, Medicaid babies, this is covered nationally by private insurance plan, and some Blue cross Blue shield. If you have their plan, you get this.
The real problem is disparity.
Right, non medicaid are the folks who are dependent on the government funded health system, don’t have access to this, and the other 50 states, we need to fix that disparity.
Thank you so much, doctor King Smart. Steven, it’s great to great to get this additional context from you, and if I could ask you to bring your camera back up, because I, I neglected earlier on to say that she became smart, can only be with us, or 12, 30. Thank you for taking some time out of your day.
I’m so glad you brought up this, this point about health disparities and really as an equity issue, and given that Medicaid covers, you know, on average, around 50 or more percent of the births in this country, and and, you know, in general, states have a lot of discretion about what what to cover and what not to cover.
That’s, that’s really interesting. I’m curious if you could say say more about this. So, like, how does this work? Is this voluntary for, for parents on Medicaid to?
know, ask for their child to have a sequencing test? Or is it, you know, like, hey, this is one of the tests we’re gonna do in the hospital when your baby’s born, just like we do any number of other kind of newborn screening tests, or diagnostics.
So, in those 70 hospitals, the moment you enter an intensive care unit, this is available, right.
Cincinnati Children’s, Toughs Fluting Medical Center in Boston, Rady, Children’s Hospital in Southern California, the Mammy, Children’s Hospital, Nicklaus, Children’s Hospital, Miami, all over North America.
If you’re fortunate enough to be in those systems, you can get a genome sequence with a single click on the electronic health record.
If you’re not, you can’t.
You can’t, if you’re born in a community hospital, you can’t get this.
Then there’s the issue of who’s going to pay for it.
And all of those hospital systems also does what’s gonna happen in California. Going to happen in Michigan, and that’s sort of Anthem Blue Cross Blue Shield. You’re gonna get the bill.
You’re going to receive a letter after, Your baby is discharged to, say, please, Place of the genome sequence.
We need to fix this, OK? It can’t just be those who are wealthy, who can benefit from this technology, This is invented right here in America, We need to end this disparity. Why is it? the children in England get this routinely. We don’t even offer it to our own babies. Why is it that the babies who are Hispanic, Latino, and african american can’t get this technology? It’s people with my skin color, Wellesley it’s CEOs, children. We need to fix this. We need to do it urgently this save children’s lives: We estimate that this will save over tensors in children’s lives per year just in the Medicaid system.
Well, thank you so much for joining us, Doctor King’s Moore. It’s been a pleasure to have you and we look forward to certainly further conversations. And so now, thank you so much. And so now I’m so pleased to introduce Linda Goler Blount.
Linda, Welcome to the panel.
Thank you. Hello! Awesome. Thanks for joining us and take it away.
OK, well, thank you, Sarah. And you couldn’t have teed this up any better with doctor King’s more presentation and and doctor my you know, again, I want to add my condolences as well and thank you for your service.
So, so, doctor Haynes more really kind of teed this up he talks about the diagnostic odyssey not needing to take so long, and, and yet it does I lead the Black Women’s Health Imperative.
And we’re the only national non-profit organization actually focused on advancing health equity and social justice for black women and their families.
And, as you all are aware, this this, what should not be an odyssey, does exist.
And the rare disease patients face a significant barriers and diagnosis. Take care treatment.
Typically, it can take 5 to 7 years to get from symptom to diagnosis for patients of color.
It’s more like 7 to 10 years. And patients of color face, unique barriers that many others don’t.
I’m thinking about a recent patient who told this story of trying to get his kidney disease diagnosed and how long it took, because as doctors kept insisting that he stop using illicit drugs or stop eating fried chicken. They didn’t perform the tests that he needed to get performed to, to actually diagnosis kidney disease.
And often, patients of color are not asked to participate in clinical trials. Where we could learn more, and and, and that is the number one reason why we don’t see more patients of color in clinical research, is because their provider simply don’t ask. They make assumptions about what they will and will not do. And don’t ask.
And when we think about advocacy, I know we’re going to hear from, from an advocate, efficacy is it’s actually an issue of luxury. You have to have the income.
You’ve gotta have the time take out an advocate to be part of support groups, to go to the Hill and go to your state capitol, if necessary. And if you’re low income, if you’re working 2 or 3 jobs, you simply don’t have the time to be an advocate, But sometimes that gets misconstrued as lack of interest.
So, to try to help focus on this issue and come up with solutions, the Black Women’s Health imperative in coalition with a number of groups launched the Rare Disease Diversity Coalition.
Out of a recognition that the barriers that I’ve talked about and so many more are pronounced and widespread among patients of color and low-income patients due to systemic racism, Lack of access to health care, health insurance, as you’ve heard about, lack of people in color of risk in research and the lack of funding of research specific populations of color. And those are just a few of the challenges.
This coalition has over 200 people in it, And when you think about direct and indirect support, we’re talking about something that’s nearly to $20 million in the making.
This, this, the Rare Disease Diversity Coalition, is really the first of its kind, and it aims to address the extraordinary challenges that are faced by people of color and people, who do not have high incomes, as we’ve heard about, who are living with rare disease, as well as their caregivers and families.
So, we bring it, we brought together experts, researchers, patient advocates, industry leaders, and policymakers, to identify an advocate for evidenced based Solutions and to alleviate the disproportionate burden of rare diseases on communities of color.
And, honestly, this conversation couldn’t be more timely.
The covert 19 pandemic, coupled with the recently renewed, focus on racial injustice in this country, has highlighted the urgency of these challenges and underscored the pressing need for action in the rare disease community.
So prior to forming the RDC, I had spent a number of years trying to get pharmaceutical companies into the conversation about increasing participation among patients of color in clinical research.
And just never got anywhere because the pharmaceutical companies, as I heard, words, were said to me directly. They said, well, you know, we don’t want to have to talk about Henrietta Lacks. We don’t wanna have to talk about Tuskegee or J Marion Sims. We were afraid to have that conversation.
That’s what makes the CDC so important, is that these folks are fearless.
And so, this focus is to reduce racial disparities and income disparities in the rare disease community, to shorten that diagnostic journey, from symptoms, to effective therapeutics and treatment.
To identify and advocate for advocate for evidence based solutions, as I mentioned, and help to achieve greater equality within the rare disease community.
Last February, the RDD See Launched.
It’s Action plan, which lays out concrete action steps to be taken by the already DC members and others, and in our goal to address these challenges.
And to lay out a roadmap for what can be done to achieve equity, It provides guiding principles to address the kinds of issues that we’ve talked that we’re talking about today.
So, if you go to rare disease diversity dot org, please download the the action plan and see what we are doing.
This coalition receives its strategic direction from a steering committee, and five working groups that are focused on provider education and engagement, patients and caregivers, government, regulation and policy, delays in diagnosis and treatment, and research and clinical trials.
And I actually co-chair with doctor Marshall Summer the clinical trials workgroup.
And what we plan to do over the next two years is make observable and measurable improvement.
And, in addition to the steering committee, there’s also an industry alliance that will, among other things, focus on diversity, equity, inclusion, and its relationship to better patient outcomes and research outcomes.
We’re using a variety of media platforms to engage with patients and caregivers, to provide a platform for them, to amplify their voice, and tell their stories, to share with the world.
And we will have a number of social media and in person kinds of events, so people can understand just how important this issue is, and see their own place in the solutions we’re talking about.
We hope that the CDC will really set the example of effective partnerships.
How to address medical bias and racism without fear, and how we can make progress toward achieving health equity.
So, thank you, and I look forward to the conversation.
Thank you so much, Linda.
You really laid these issues out so well. And, you know, really, you know, even the example you gave of the gentlemen, the kidney disorders, such a such point in and, and, and, and hard example of how racism and bias shows up and in, in medicine, sometimes. Right, and so, applaud you for all of your work that you’re doing. You know, I wanted to ask you a follow up question before we move to, to Nellie’s presentation around diversity and clinical trials? And I’m, I’m wondering, you know, particularly with the increased focus attention on racial inequities, in health care, over the past year, have you seen any change in terms of the recognition of the need for greater diversity in clinical trials? Are what concrete steps are you seeing that are either being taken or, you know, maybe are on the verge of being taken.
that give you, you know, some, some promise here.
So it’s a little early, but what I can say is that it’s on the radar screen. Last year, I can’t tell you how many times people said to me, Oh, racism, I had no idea, or health disparities. Oh, my goodness, I had no idea. Are there. They’re connected. You know, we didn’t know.
So, now, folks know, and now, people are beginning to think about this issue very differently. And what’s, what’s encouraging is, we’ve actually had this search going back 30 years, that looks at the connection between racism, and gender discrimination, and poor health outcomes. So, now, that research is being brought back to the forefront. And I’m hearing a very different conversation.
The RDD see, you know, is sort of outfront of this, but people are really beginning to understand how important diversity is, not only among participants but among researchers because what we know about evidence is what becomes evidenced depends on who’s asking the questions, who they’re asking and who’s funding it.
So, once we’ve now broadened the scope and realized how important this is, I expect to see much more momentum and to see some real difference in the coming months and years.
Thank you. Thank you so much, and I have to ask you one other question, since you are the Black Women’s Health imperative. And doctor King talked about newborns and newborn screening, and there’s been so much attention, of course, on the terrible issue of maternal mortality, and particularly the disparities there. And so from the standpoint of, you know, mother as a new new moms, like, is that, and rare disease is your focus relatively more around? Children and newborns are kind of like through the lifespan. I’m just curious kind of if there’s a particular focus there.
Well, our focus is the lifespan. I mean, from the newborn girl up to, you know, hopefully the 105 year old. Who dies the good death.
But to your point, part of what we are doing is helping moms understand what they can expect what kinds of questions to ask what to look for and recognize when they’re not getting the kind of care that they they really should be getting to protect their their unborn and protect their newborn and protect their them and and their their newborns in that first year post-partum.
So this has really, you know, you’ve seen what’s been in the news. It’s really important for us to make sure that we know what kind of care we should get and recognize that when we’re not getting it.
Absolutely. Thank you so much. Thank you. And now I’m pleased to be joined by Nelly Ganesan from as a layer to tie together a number of policy threads that we’ve heard today. Nelly take it away.
Thanks so much Sarah. And thank you also to the Alliance team for this very important discussion.
I think, know, doctor … comments is our, sort of, that story, and his own sort of life journey, and navigating this, not only from a clinical perspective, but from a patient perspective, is why this conversation is so important and needs to continue. So, I, you know, will go to say that the three folks, we’ve heard from sort of validated everything, that we also discussed, when we met. So, I’m going to share a little bit about, sort of, I’m going to call it a paper, and hopefully, like a call to action that sort of addresses some of the issues that were, that were already discussed today. We at …
Health, think Sarah Introducer of the organization at the start of the call had an opportunity to, you know, sit down in a roundtable discussion with sort of 15 to 20 folks in this space, So individuals that come from rare disease, we had Doctor King’s more there. We had a number of other clinical representatives, folks that came from the technology space. So, you know, the diagnostic odyssey has sort of this, this ground, this foundation or this groundwork.
And what are the technological solutions to help this diagnosis be more efficient and more accurate?
So, we had folks from the technology space, Sarah, we had books that sort of fund these different mechanisms that are in the space to talk a little bit about what some of, you know, not just, I think, the challenges that we heard today, but potentially what some of the opportunities are, as it relates to scale and spread of these types of technology solutions. You know, everything that we heard today, I think, is not new for people that have been very close to this space. But I think for some of you that may be less familiar, you know, it’ll, it’ll apply to some of the other work that you may be doing in health care. And if we go to the next slide, um, you know, we sort of started this conversation by saying, OK, in an ideal world, what would ideal diagnosis look like? So, you know, if you think of maybe even something as simple as diabetes, where it’s a patient comes in, you know, you can check their A one C and sort of predict what, you know, what type of disease they have, even particular time.
The treatment they have, you can have some sort of variation of diet and exercise that can be applied to a patient, And then there’s an appropriate diagnosis, right? The patient goes home, they sort of take care of the needs that they have as it relates to that disease, and not to say that it’s easy. Clearly, you know, folks with, sort of, you know, very mainstream conditions, there’s obviously still always challenges, as it relates to things like reimbursement and, as it relates to follow up, care and caregiver care.
I think the differences here is that each one of these steps within rare disease is, you know, at least from what we heard from this discussion is not consistent, um, the sort of misdiagnosis kind of lack of information, just in the clinical space. and sort of the literature around what, you know, what symptoms are that present for a specific disease, and sort of symptom identification, what options are available for that patient. And then also, right treatment, and what are the different sort of treatments out there, and is there a treatment for a specific, or specific rare disease. So, there’s this idea of, kind of, what does good look like in this space now? has yet to be defined. And, I think that that’s probably like a very, you know, a very baseline piece. That, when we see what this journey looks like, there’s clearly going to be a number of different challenges. But if we look at that, sort of, at a, you know, a distinct perspective, Maybe there are some options that can be identified to address each of those challenges.
Go to the next slide.
The challenges that we discussed within that group. And I think that, you know, they are there will be heard on today’s call in so many different ways. And I think, again, if you know, your doctor might story of somebody who had access to the system and who had great clinical knowledge of how to diagnosis sons care. There was still so many challenges. So if you look at folks that are in a rural area that face, you, know, that face health disparities, as Linda mentioned, you’re going to have trim exacerbation of of issues. But some of the challenges that we discussed as a group, and I don’t think that they should be a surprise to anyone on the phone, but. There’s a high. You know, there’s, there’s a high demand of what these patients feed. Especially, when we think about sort of complex or chronic conditions. At some of these patients have already had misdiagnosis misdiagnosis within this patient population.
Oftentimes also leads to fear you know if you think of yourself and sort of coming home with, like a mosquito bite and you know, drastically search on Web MD for some kind of response.
Mean, if you think of that as sort of, to the 10th degree, there, aren’t, necessarily, you know, answers that we can find on the Internet for a lot of what these patients are feeling, or what these patients a year with the caregivers and families need, Clinical education.
This is, this is a big one, and I think that this is, you know, this is some of what we talked about, is, the idea, or the concept of rare disease is still new. I think the training, you know, the training is limited in medical school, and any clinicians don’t see a high volume of these patients.
So, their experience in mitigating some of these issues is also very limited, on data maturity and regulatory barriers. Doctor …
talked a little bit about this, around, you know, the regulatory barriers to implementing almost coverage for, for genomic sequencing, is very limited interoperability, is, patient see various clinicians. Doctor Might mentioned his own personal electronic health record, that he carried around.
So, that idea of, you know, a family going from a physician, in one state to another state, but, the having to have the same conversation about sort of some of the challenges that they face is definitely, that’s definitely a barrier to sort of successful, successful, or optimal care here. Adoption and workforce. This sort of links, also, a little bit to clinical a clinician.
Education, I think, you know, many of the folks on the phone today would agree that the, the geneticist, the number of geneticists in this space are limited. There are, I think, tend to be less folks that are going into that world now. But that’s definitely where more skill set is needed. You know, the, the other thing to just the clinicians that are seeing these patients, patients and families are scared. They don’t necessarily know what to do. I think empathy is very pivotal and key to these conversations, even if it’s just sort of helping patients navigate it, who and if they knew who, and where they need to see somebody. Finally, Linda talked a lot about equity. I would sort of link this, you know, link equity here.
In this case, also to the fact that, And I think doctor …
mentioned this, too, is, you know, this type of treatment, this type of management of care is very evident and very precedent and present in non rural communities. So, urban communities, if folks are lucky enough to live in those spaces, to have this access.
But if you, you go out to sort of, you know, the, then in Mississippi somewhere, you’re likely less to have access to some of the genomic sequencing unlikely, also less staff, clinicians, that sort of understand, and have seen a higher volume of these patients.
And then finally, sustainability, and I think this was sort of the crux of the discussion that we had is, you know, there’s a lot of energy around this now, and I think that there will continue to be, but, you know, outside of funding, what are the mechanisms that need to be considered to sustain better diagnosis of this patient patient population, especially from a scale, a scale perspective?
And then finally, we presented these different challenges and barriers.
And then I think the second part of this discussion really sort of focused in on, are there optimal solutions, and how can discussion really start to continue? And I think we heard a lot of this in today’s panel, as well. Specifically, that, you know, one of the big takeaways from this is, these are very, you know, some of these are unique to some of the challenges and barriers are unique to rare disease. Some of this is fixing it, and kind of the larger healthcare space, right?
So, when we think about when we think about sort of regulatory barriers and interoperability and payment and coverage and reimbursement and access to care in rural populations, you know, that is that is important to rare disease. It’s also important to a lot of other diseases and elevating that conversation so that recognizing and fixing the healthcare system will also, you know, be opportunistic to help these patients to help her disease patients and be applicable to the diagnostic odyssey. I think, you know, the integration of additional tools for patients to be able to use.
I think that the, the point that doctor might made about building community in this space is incredibly important. And something that we heard again and again in our discussion. And then, finally, you know, this idea of applying a global approach for rare disease, as doctor King’s Moore said, this is happening all over the world. And it’s, you know, it’s not. And it could and should be happening here. But what what are the sort of steps that are needed to make that happen, Even though a lot of it is coming sort of from Medicaid Medicare coverage, but are there other pieces, internally around pairs building, consensus on what should be covered that. Would that would help this as well. So.
For more information on this paper, you can actually find it on the other health website. It is a nice summation of sort of the discussion that we had today, and also where there’s an opportunity to move forward as it relates to policy discussions and future research. So hopefully that sort of was a good, a good way to end today’s discussion. That’s great, Nellie. Thank you so much, and I’ll ask you to stay on. You know, it’s, you made such a good point. It’s, it’s, you know, I’ve heard it say, like if we could make the healthcare system work for cancer patients. So we can kind of make it work for everyone. It seems like.
This is one where if we could make the health care system work for patients with rare disease or who are about to find out they have a rare disease. We could really streamline it for everyone, You know, with so many of these underlying issues that you called out.
So let me, let me ask.
Well, while we’re, while Natalie and I are chatting for our other panelists to come and join us here and you know, Nellie. I’m just, I’m just wondering if that was kind of an editorial observation. But I’m curious if you have thoughts on that, as you know, really pulled all of this research together?
Yeah, I think, you know, we’ve seen this, and if we’ve seen this in some other disease areas, one of the things that did come up in the discussion, and I think folks on the phone would probably agree is no policy is one lever to allowing two to, I guess, pushing, moving the needle forward of how diagnosis can be covered, what the interoperability piece looks like. Um, you know, an idea of sort of bringing, one of the things that came up in our discussion was this idea of bringing, sort of, this consortium of pairs to discuss, kind of, shared benefits of genomic sequencing, and these Bible solutions to addressing the problem. You know, whether that might be a shared pool of genetic data. So Doctor King’s More Talk, a little bit about that, right? They did that, They did that in sort of the State of California around the question of prove it. You know, and to show that there is value in that Medicaid should be covering this.
Oftentimes, these are, sort of, you know, the, the issue becomes very local, but if there was a way to elevate that to sort of the national landscape, as they’ve done in other countries, I think that, that, you know, that, that would show viability for it to be happening in different states. And even in communities where the rural access is a disparity, those patients would have the ability to travel somewhere where they could get that care. I mean, we’ve seen that. You know, we said, We see that in, in, in various spaces in oncology, so I think that that can work here.
Yeah, thank you, That’s a great point, and we’re getting some audience questions. This is the moment where we’re like, so many questions, So, little time, we have about 10 minutes.
So, I want to want us to have a great lunchtime discussion here and, you know, want to ask each of you know, Are there are sort of one, does new policies that you think could make a real practical difference in the next 1 to 3 years? In terms of improving this diagnostic odyssey and maybe Linda, I’d love to start with you and just ask each of you if you have thoughts on, on, you know, What would be like top of mind for you in terms of policy change?
Yeah, that there are. I mean, obviously Doctor King’s were mentioned Medicaid. You know, there’s that saying. If you’ve seen one Medicaid program, you’ve seen one Medicaid program, I mean, we really need to get, make sure we have insurance coverage. There’s some hope around sort of the next phase of the 21st Century’s Cures Act to make sure that we look at health, literacy, and clinical trials diversity and of, obviously, patients, and providers. And, no, FDA has some requirements around diversity and clinical trials.
Wouldn’t it be interesting if those requirements were actually enforced? And we could make sure that, that we saw diversity in clinical trials participation.
And as we look at drug therapy, and how we value them, I think we should include the limited lived experiences of patients of color in that evaluation and valuation process that eyesore goes through.
Because what may be of value to one population group may not be to another group, but that doesn’t mean that the drug is not valuable to that patient group.
So, I think we’ve got a great opportunity to look at how we’re evaluating, therapeutics, evaluating how they’re paid for, and how work, how we communicate about the availability of genetic testing.
Because, again, that, you know, is not universal as as we know, And so, that’s why I’m hopeful about it over the next few months that we will actually see more people, to hear more people talk about that need, so that more people begin to ask those questions and to doctor … point.
You know, why is this journey so long.
He’s right, the diet acid journey should not be that long.
Thank you. Yes. Clearly, an area where the policy and practice hasn’t caught up to the science or, you know, certainly the realities of people’s lives. Not, what do you think? And, you know, I’m curious if you, particularly if you have any thoughts on the data or interoperability front, but certainly anything, any thoughts from your add on on key practical policy changes?
Sure. Yeah, I’m gonna echo agreement with the need for reimbursement domain. It is not covered. People are gonna get it, and it shows up.
And actually, I want to just touch on the disparity issues to the fact that it’s gonna reimburse district, dramatic impact on despair base. And anybody who’s a part of the rare disease tell you that the underrepresentation is very visible when you look at the composition of patient groups. And what’s striking about rare genetic disease, in particular, is that we can measure very precisely just what the degree of underrepresentation is.
For example, if you take a genetic disease, for every group, you can predict exactly how many patients there should be, and then you can measure how many there actually have been diagnosed. And so, you can get very quantitative about the degree of underrepresentation. But even using your patient gathering, you can see it and so I think you can, you know, where to lead as a way to measure the impact of policies, in general, designed to address disparities, Because you’ll see the impact dramatically, and immediately, and very quantitatively. And then, when it comes to interoperability, I’m very excited about the potential of recent rulemaking, with, regarding things like fire, this interoperability standard, for exchanging medical record. I think it’s fairly day we don’t know quite yet if this is going to be exactly what we’ve been hoping for the whole time, but it’s certainly a big step in the right direction. And I hope further efforts to ensure that their seamless access to your electronic medical records continue.
Thank you. So you don’t think we should just teach parents how to create passwords for each of their doctors, and that’s like you are able to do what? A lot of parents they’ll do today.
Yeah, Yeah. Definitely.
Not to, Yes. Exactly not to be efficient about it. It’s, It’s terrible if that’s kind of where we are. And I’m glad you brought up the, You know, that, the disparities point and sort of measuring that difference. And I think we’d certainly be interested to see more resources, and be able to share those with our audience to.
But again, I think when people talk about structural inequalities are, you know, structural racism, even in health care is such an, again, a good example of if you’re not looking for it or you’re not covering it in populations that have been disadvantaged populations of color, like, then you’re not.
You’re not getting the information and then that’s not feeding into the the, the research or the treatments, right? So Linda seeing you’re not, I don’t want to editorialize too much here, and speak too much out of school, but I thought I wanted to call that out as also as an example.
Yeah, I couldn’t agree more.
So, let me ask. There’s another question from the audience. And, you know, I want to leave a little bit of time for just, just some final thoughts from everybody. On the panel, But, I think this is an important when someone from the audience said, you know, all the challenges that, that you note on, the collective you note are all too real for many. This. Is a board member of an organization dedicated to a specific, rare disease. In this case, Pericarditis asks, How best can we align with other similar organizations to share information conduct outreach to help individuals who are newly diagnosed, or in the process of seeking a diagnosis, and make sure that that the process is a little more streamlined for them?
Linear, you’re nodding a little bit. Let me ask if you have, if you have a thought there, as far as what they could do?
No, I would say, No, please reach out to us and join the Rare Disease Diversity Coalition. I mean, we hope to assemble best practices, information. This isn’t a situation where we’re telling everybody to do the same thing. There are a number of different rare diseases represented in this coalition.
What we’re trying to do is raise awareness of how to make this How to shorten this journey for everyone.
I mean, obviously, we want to focus on reducing and eliminating inequalities and inequities, but everybody can benefit from understanding how to go about that. They are that this diagnostic journey, and how to go about finding information, How to, how to have a conversation with your providers, how to know what kind of research is even available, how to participate in a clinical trial.
So, sometimes, just having a place where you can share information is really valuable, and that’s what we hope to do with the CDC, is to become that repository of practices, information, resources.
So people You can shorten that journey, and, and try to do it with less fear.
Yeah, because, you know, as this, Matt knows, I mean, that’s, that’s every parent’s fear, but he jumped in and he did everything he could. And, and it would be great if all other parents could do what you did mad and have the kind of access to resources that you had and knowledge to do what you did.
Yeah, thank you. And so, in a few minutes, we have left, I want to know, I’m curious, Nellie like, as you, you participated in this roundtable or you pulled together, you know, payers and and practitioners and patients, and, and, you know, kind of folks from across the spectrum. Just, can you speak to, like, what are, you know, if any, kind of co-ordination challenges, are that, what more could be done to make sure that people are speaking with each other around, you know, how to improve the diagnostic odyssey?
Yeah, and, you know, Linda, I applaud sort of your efforts as well, because I think something, and, again, I am probably of everyone on the panel, probably the most like least knowledgeable about rare disease, like more broadly. But what I would say, in comparison to other disease areas, in terms of who we were talking to, like, there’s a, there’s a priority amongst the folks that spend a lot of their time doing this. But there was a lack of priority from sort of individuals that are maybe coming down from like a higher policy level. Right? So when we think of things like the number of diagnosis codes that are available for rare diseases, it’s a limited. And so the priority, the priorities, like coming down from almost the top-down, in my opinion, seem very limited.
So co-ordinated efforts, I think, are definitely necessary. And I would say at this point in time, there’s a need to just raise visibility of, like, what some of these barriers are, And I think there’s lots of these organizations that are doing that. And once that sort of visibility is lifted, there’s an ability to co-ordinate a little bit more across key organizations.
I think there are a lot of groups that are focused on this, right, So I think of the individual that you received the question from, there’s a lot of independent, sort of patient advocacy, community groups, community forums, focused on individual, individual types of rare diseases. But there, there isn’t necessarily like, I mean, there are a number of different organizations focused on rare disease, but bringing together a sort of all of those Chambal challenges. So, Tara, I don’t think I answered your question, but what I would say is, sort of, the ongoing efforts to continue to address this, right? The more people that are doing this, the better, versus the less people that are out there sort of building community, and kind of fighting for some of these challenges.
Yeah, thank you. And I want to be mindful of time, but now that I didn’t really give you a chance to answer the policy question, you know.
Do you think there are 1 or 2 areas that that, really, folks can agree on and not only kind of across different sectors, but maybe even in a bipartisan way, if I daresay?
Yeah. I mean, I think that this gets very wonky. But the decoding rate, the need for more code. So that clinicians can, actually, like a properly diagnosed not, not to say that. they not to say that there isn’t appropriate, diagnosis, but we can at least get closer to the data, right? The more codes that you have, you can get closer to sort of what those diagnosis look, like Africans Kings, more talked about, how every day he refreshes. And there are more rare diseases that said, Codes have an increased rate, the number of sort of diagnosis codes have an increase. So to me, like that, you know, if I hit that, that, that seems like a very large lover and one that is feasible since Sarah codes being graded for all kinds of weird things now these days. So, you know, I think that is, that is one. I think the second is, is this idea of sort of data sharing, which, you know, doctor Might also talked about, is, it’s not just sort of the clinicians that need the data. I think now the patients are very interested in the data.
So, providing that type of access, you know, widely around, like, what does the data look like for my disease that I’ve been diagnosed with? Have 10 people that have been diagnosed with it, or have 100 people diagnosed been diagnosed with it, or am I, and one? You know, I think, I think that those questions are important, too.
Great, thank you. Well, I want to end on a thank you, and you all have provided such an amazing context.
You know, and in 1 or 2 words, let me ask each of you just, what gives you hope for improvements over the next few years, and, and, Matt, if I may start with you, Is there anything, you know, in all of these conversations, that gives you hope, that the, that the situation will improve?
I’m certainly optimistic that the situation will improve.
And I hope that we take the diagnostic odyssey as the starting point for the therapeutic. Gotta be, more generally, from now on. And not that, you get a diagnosis that we encourage folks to continue pushing and develop similar kinds of technology. Therapeutic side, so that we get, not only answers, but treatments.
Thank you. Nellie, what do you think?
Yeah, I mean, I have to say, you know, stories like doctor mites, I think is also to me, where there is motivation, to continue to do this right. So there is a need within the community. And there, it’s not just, you know, it’s, it’s the patient stories. I think our motivation for me, so elevating, again, I’ll go back to my earlier comment, just elevating some of those stories, so that it’s a priority at the policy. At the, sort of, at the higher up of the policy. Angle is important.
Thank you. And Linda, you get the last word? Well, thank you, I think the fact that we’re having this conversation, this is what gives me hope.
Because before, last year, there were different, very different kinds of conversations. There was resistance.
Now, there’s much more acceptance to looking at the social and historical contexts that we live in, and what that means for rare disease, for diagnosis, for therapeutics, procures, So I encourage everyone on this call to you know, keep keep yourself abreast of what’s going on, dig in and and hopefully share the belief that we all have. Which is these inequalities. Just don’t have to exist.
Thank you absolutely.
Thank you. Thank you so much for joining us today Linda, Nelly and and and and Matt you all have really enlightened me I think and all of us on this call thank you so much for joining us and we look forward to future conversations for those interested in more information check out all health policy dot org and there you can also find I believe contact information for our speakers and for the resources that they shared today. Thank you again to Alexion on, for supporting today’s webinar, And, finally, for those who are looking at, perhaps, the Fundamentals of Health Policy, and you’re interested in learning more, check out the Alliance for Health Policy Handbook.
It includes chapters on, coverage on, how the FDA works, and on a number of other health policy topics that you might find of interests. So, please check this out, and fill out the survey. We do take quality very seriously, so, we want to hear your thoughts. Once again, thank you very, very much for joining us today for this conversation on the Diagnostic Odyssey for Rare Disease Patients, and have a wonderful afternoon.