So this afternoon's plenary session
is being presented by Natasha Bonhomme.
And Natasha
is the founder of Expecting Help.
Let me find my notes.
So Natasha brings nearly
two decades of nonprofit and maternal child and health experience
to her role as the founder of expectant health at the Genetic Alliance,
she launched Expecting Health to bring together a range of consumer
and professional stakeholders to address the need for clear
science based information for families and individuals
through tangible, actionable messages.
Her focus is on bringing public and familial perspectives
into policy and implementation.
Her portfolio includes leading Baby's First Test,
a National resource center that reaches over 600 families and health
providers annually,
being the program director for the HRSA-funded Newborn Screening
Family Education Program, and participating on numerous committees
on maternal and child health and dignified care
throughout the prenatal and postnatal periods.
Natasha has also testified in front of Congress
on the importance of family support and education in newborn screening.
She's an organizational representative to the Secretary's Advisory Committee
on Heritable Disorders in Newborns, and she is a board member for the D.C.
based federally qualified Health center Whitman-Walker Health, which provides
affirming community based care with special focus
on LGBTQ+ and HIV care.
Natasha will be introducing some other people
who will be working with her on this panel later in the presentation,
but she'll be addressing A new era of early detection:
The race to move our genomic sequencing and where it fits in.
So welcome, Natasha.
We look forward to hearing from you.
Thank you so much for that introduction.
And good afternoon, everyone.
And I am really excited for this session
because it really is meant to be the start of a dialog.
It's not about endorsing one way of doing something or endorsing another way,
but merely to say, Wow, we've come a long way
and it's time to have more and still be part of the conversation.
So we are actually going to start with a video
that's going to be a bit of a one on one
in terms of how we got to where we are with newborn sequencing.
And then we'll jump into my part.
So we can start the video, please.
So I think maybe we all need to take a breath
because that is a lot of information and I'm about to give you a whole bunch more.
Not a whole bunch. Just ten slides more.
And then we will go into our session with our panelists.
And just for some additional background,
the mission and focus of expecting health
is really to replace the fear and confusion that many face
when they're building their families with confidence and agency to be able
to make the best health care choices for themselves and their families.
So the overarching objectives of
this session is really to raise awareness, which [inaudible].
did an excellent job, to understand intentional change
and the patient's story, both in terms of early identification,
but also what treatment and in turn and intervention may look like.
And then most importantly is just to get the dialog started.
We are big believers in nothing about us without us,
and we have really seen how there are many conversations taking place
that don't necessarily include all of the invested partners.
So as is mentioned,
there are a number of different projects taking place, not just in the U.S.
but across the world for more than ten years, the NIH has
invested and funded different programs to answer
some of these challenging questions around what does it look like to apply
this new technology to a newborn population.
Those programs are called insight programs.
And you can see some of the history of them.
And so even though there have been these investments for more than ten years,
I would say in the past three years, there really has been an increase
in coordination, increase discussion about them, increased media attention
as many of these programs went into their second
phases to broaden their outreach.
There's just more discussion.
Some of the common challenges that have come up in this work
has been one: recruitment.
That's always a challenge in research projects.
But I will say recently there really has been an uptick
and I'll note a couple of different programs that have really seen,
I guess, what you
could consider improved numbers in terms of people
being more interested in partaking in these research projects.
There also have been challenges around
diversity and who is signing up for the projects.
What are their stories?
You know, many of these programs were originally in the more metropolitan areas.
Again, the phase two of many of these programs are focused
on increasing the diversity in their cohorts,
including reaching out to more rural communities
and different communities that typically have not been part of this process.
There's always the question of what about follow up?
So what happens after the test takes place?
What happens there, and who's responsible for that?
There's still, again, many conversations happening in that arena
as well as we've seen families who've gone through these research projects
and have found out that their seemingly healthy newborn
has an increased risk or even a diagnosis
and then chose not to move forward with the standard treatment protocol.
What does that mean?
Is that okay or not?
And who gets to decide that?
And then, of course, like everything else, sustainability.
What happens next?
What happens after the grants are complete?
Will there be a new phase or will this
now be taken up as part of clinical care
or a different pathway?
So this map here shows
where many of the programs are taking place.
[Inaudible] And so you can see
there are a number of different programs in different parts of the world.
In the U.S., we have five.
We have one in San Diego
BeginNGS, which started out as a focus on children
who are enrolled in the NICU and really have that as their anchoring,
but are also looking to, okay, we've tested it out with sick kids.
What does this look like with a seemingly healthy child?
We also have The Guardian Project, which is based out of New York.
And just last week, I believe, at the American College
of Medical Genetics and Genomics annual meeting,
they said that they had had 10,000 babies go through their program.
So that is a substantial number.
And then we have EarlyCheck,
which is based out of North Carolina.
They, I believe, at last week's meeting also noted
that they are on track to bring on board 100 babies a week.
So. Right.
We're getting into some real numbers.
And then we have BabySeq, which is based out of Boston
and then ScreenPlus, which is also in New York.
Then we have the groups in Europe
and these are all a little bit different and we have Generations,
which is out of the UK and that is a national program.
So what that means is they have committed at the highest levels
of their ministries of health that this is an area
that they want to invest in, they want to learn.
So it's still under the label of research,
but it is a nationwide project.
So a lot of attention looking at this to see
how would this be integrated into what is currently taking place,
What does it mean for our rural communities?
What does it mean for, you know, just going along
parallel with their standard newborn screening?
Which I will note they have the number of conditions
they screen for, is much fewer, less than what we screen for here.
I want to say they are at ten conditions now.
So again, very different from here.
And then we have a number of other programs for time
I won’t go into all the details.
But there are programs in Italy.
That is more hospital based and a very different model.
So not public health, not nationwide, but a network of hospitals
that are coming together to see how what they will learn
by doing this research project and then also in a couple of other
countries in Europe and we have Australia that has four different programs.
And you may ask why would Australia have four different programs like this?
And similar to here in the U.S.,
they are looking at it with slightly different approaches.
Again, all of this to show
this is really happening in a number of different places
and a lot of learning is taking place right now, which is great.
I will
say that there are some programs that are not here on this map,
so we know that in China there have been, I want to say, 20,000,
don’t quote me on that - 20,000 babies that have been sequenced.
And we also know that there are a couple of different programs in the Middle East
that are looking to see how they would start up a program like this.
But these are just the ones that were [inaudible]
to the next slide I’m going to present.
So because of all of this activity,
there has been an international consortium of newborn sequencing
that has been pulled together, which is based out of Harvard.
And their mission is really to harmonize
the learning across global implementation projects
and they have a number of different paths that they are looking at.
They're looking at data sharing gene list.
That's something I forgot to mention.
Each of those programs are screening for slightly different lists of genes.
Many are overlapping.
Many, many, many are overlapping.
But we have lists that range anywhere from 175 genes
I believe all the way up to 400 genes.
So again, there's a lot of difference
in variation between the different projects.
The consortium has over 200 members
and I believe anyone can sign up.
If you'd like to sign up to talk to me
and we can just go and reach out to the executive director.
But there are a number of different people with different backgrounds,
including patient advocacy, including technology, medicine.
So really it is a group of people who are interested in this work
from different perspectives.
And so this October
there will be the third annual meeting of this group.
And last year there were over 40 countries represented.
Again, I’m sharing all of this to show just
how much is happening in this space.
And what I see as an opportunity for many people who maybe haven't
been tapped into this conversation to be able to participate.
So in October, New York, if you’re able to go, I highly encourage
you to check it out so that this group
who are maybe very excited about the concept and the projects
that are taking place
can hear from people who are on the ground and doing that real work with families.
So why does this matter?
This is something that has been spoken about as coming in the future.
One day maybe we will do this.
And as you can see, it is happening.
And even though, yes, much of this is happening under the lens of research,
it is very real for those families who are going through it,
who may think, I'm just participating, this may be interesting.
And they may get information they weren’t anticipating.
So often we focus on technology
and what's new there and what's that data look like.
And then later we say, wait, but what about the care
is going to come along?
What about this being the start of a journey for our family?
You know, and that's something that this community here in this room does so
well in terms of really integrating not just identification and detection,
but really what is that ongoing story for that family
and the support that everyone will really need?
And then also,
there's been a lot of this discussion around rare diseases, but
if we're going to start sequencing the whole genome,
especially in newborns, it's
not just going to be about rare diseases or however you classify that.
It will be what is in there, what we can find out.
So again, really expanding that idea of who
this may have an impact on.
So with that,
I will move over to the panel part of the presentation.
And we are joined by two people who really don't
need an introduction that I'm sure many of you know.
But I would love for you both to introduce yourselves
through the lens of the question and
when did you first hear about genomic sequencing,
particularly when thinking about it with newborns?
And just what was the context of that?
And how that relates to the things that you do?
I'm Michelle John.
I am a parent of three.
My oldest is ten, he is deaf blind plus.
Just to give you a little bit of background.
I'm also the president from my hands and voices.
Under the guise of hands and voices, I had an opportunity
to attend the Association of Public Health Laboratories
Newborn Screening Symposium in 2022, and I thought
I was just going to represent the people who have the hearing stuff.
And I was floored at
what I've learned regarding
newborns screening, specifically the genome sequencing.
I had no idea it existed.
I had never heard of it.
I had no idea what anyone was talking about.
And the more presentations I attended and the more plenaries
and keynotes that I attended, I realized this is huge.
This is important.
I have no idea what to make of this.
And people are talking at me about ethics and legalizing this and what about this?
And I was just stunned.
And I realized, given that I'm pretty deep into my EHDI system
and I don't know, the average parent may not know.
So that was really a big shock for me.
So I did not know until then.
Good afternoon, everybody. I'm Marcia Fort
and I am - I
serve as the North Carolina EHDI Coordinator.
But as part of my job, I also
supervise and manage the newborn
screening follow up team across North Carolina.
So as Natasha mentioned earlier, North
Carolina is the home to one of these projects, Early Check.
So if I were just
wearing my EHDI coordinator hat,
I too would not have known much about this.
I think because of my connection to the metabolic screening follow up team
and our state lab and the fact that early check is a program
that existed in North Carolina even before we began the sequencing
part of the project, Early Check has been in North Carolina
as an option and additional screening
for families to choose for conditions that are not on the list yet.
And so we've had that early check process.
So when sequencing came along,
I was involved in some of those discussions
as we got that up and off the ground, but
I may be somewhat unique in that in that I am tied to the programs.
Thank you for that and thank you for noting that difference
with the early check as I mentioned, I lumped all of those programs together,
but they each are run differently, have slightly different starts.
So there is definitely a variation.
So I am going to ask the audience
to pay attention now.
But before today and this session, how many of you have heard
about whole genome sequencing and just raise your hands.
A good number.
And out of this group
how many of you had heard about it within the context of newborns?
Almost the same, but still fewer.
So I think that was about half.
Half the room maybe said that they had heard of genome
sequencing before this session and then about two thirds of that half -
I'm not going to do that math - had heard about it in the context of newborns.
So, that's really helpful.
Next question for our esteemed panel.
Here is what are some - what can groups who are doing this work
learn from the work that EHDI has already done?
So often we see new projects and say, That's great
and let's make sure we're not reinventing the wheel.
And even just recently, I learned about the work that and EHDI does
when thinking about follow up for risk assessment.
So increased risk, that's been a big discussion
when it comes to whole genome, but it may not exactly be a diagnosis.
It may be a risk that increases the risk that we're noting.
How do we communicate that?
So that's just one example.
But you know,
what can these groups who are doing this work learn from all the
great work that EHDI does?
Yeah, that's a great question.
I mean, as a family perspective
and certainly knowing enough of the history of various states, EHDI programs,
family involvement and engagement at the start is going to be really critical.
We need to be at the proverbial table, considered a participant
and or a stakeholder, have whatever term you prefer.
I think it's really critical that we have these discussions
and being proactive versus reactive to families,
they're going to need a lot of information.
When is that information given?
How is it given?
How do we start awareness and move to understanding
and how do we ensure that families’ stories
and their opinions are counted
and taken seriously
and that is something that has been a journey, I think, for the EHDI program
and even for this conference where at the beginning there were no families
and now there's a little more than 100 of us here
and takes a lot for us to get here.
So how do we make those meetings accessible?
I think really family engagement is a pretty critical thing
that they don't need to reinvent and pretend that they introduced it.
I'm going to
second all of what Michelle said about family engagement.
It really is key right from the start.
Other lessons like Natasha mentioned,
we as EHDI, as the EHDI system of care
already have some experience
collecting risk factors, collecting data
about risk factors and establishing some
at risk follow up procedures,
and then processes within our states.
Our expertise with that is at varying levels,
but it is not a foreign concept
to any system of care to look at children
and their families who are at risk for developing something later.
There are some really solid lessons I think, that can be learned
from what we have.
We've also fairly recently
entered into the sea of the CCMV, the
screening and follow up and risk there.
So we have more lessons to contribute.
And I think just the
connections that he has made with not only family engagement but
also with the education system
and Part C programs
and the vision programs
and hearing programs and some of those other.
I think we have a great deal of experience
with EHDI bringing
as many of the partners
who need to be in the conversation that we can possibly think of to the table
at the beginning in the planning process,
thinking about the risks
and the benefits of whatever is happening
and really taking into consideration the effects
on the professional system,
thinking about the effects that that may
fall on payment systems,
thinking about where funding may or may not be, the
legal implications, and data sharing.
We've done so much work in EHDI systems around all of that.
And I think being at the table as this kind of enters
and becomes maybe at some point standard of care
is really key for us.
Thank you.
And so I do have some closing slides, but before we go to
that would be great to see if there are any questions or comments,
even comments from the audience.
So I see one hand.
So Natasha? Yes?
So that we can include our colleagues who use American Sign Language.
If you have a question or comment will you come up here
so that the interpreters can interpret for that?
Okay, that's okay.
So if you're on this side of the room, come over here
and then if you need ASL interpreting.
Well, you know,
So my question is,
so we're in the middle of this process right?
Which I get, you know, we're not there yet, but we're getting there.
My question is how
does this not cross the line into eugenics?
This is a razor's edge that we're walking on.
And I just want to be sure that we don't cross that line
and that we don't fall into what I just mentioned, eugenics.
So I'm just wondering how is this going to affect discrimination
against people who are identified?
How is this not going to turn
into a purification scenario?
So I'm just wondering, where is that line?
Where are we in relation to it now and how do we keep from
falling over the edge of the eugenics and I appreciate your response.
And I appreciate the question.
And as for me, others also
appreciate that question.
And so I appreciate that question, as I know
many in the room also appreciate that question.
And while I don't have a solid answer,
I do know that we're not going to get to that answer if people are not
brought into the conversations that are taking place.
Again, this is why I thought it would be really important
to have a panel like this, knowing that now for three years
there have been people gathering and having these conferences on the topic.
And I will say very little around patient experiences
and I would say even public experiences and public perspectives.
Usually it was just me on a panel,
one panel just and that's not enough.
And so I think this is why bringing
this topic to this community and many others,
to be able to raise those questions and to help define what is that line.
I think that we can't
wait to see how it all gets figured out because then then you're looking back
and then you're saying, I guess we should I guess we should have
instead, let's say, let's really co-create this together.
Let’s ask the hard questions now, as opposed to maybe regret
not asking them beforehand
and really painting the picture of what does this look like done well?
And what does it look like not done well,
but I think we can't hide from those questions.
We have to be able to bring them up.
And so often it really is families and people who work with families
who tend to be not just the ones to raise those questions, but to say yes,
yes, yes.
We've asked that question now for three years.
Where are the answers?
How do we work towards those answers?
So again, that isn’t a set in stone answer, but I think that is a call
to more involvement and more engagement from a range of different perspectives.
But I don't know.
I do have a follow up.
I thought a couple of things, and it's going to be, again, really
critical to have all vested parties available to have input.
This is going to include self-advocates, advocacy groups, families.
You know, again, we don't know what groups know what,
if you know of an advocacy group of which you are involved, with
or could reach out to at some point, they need to start maybe having
statements, public statements to put out.
I also think this is really critical conversations.
What is the end goal of whole genome sequencing?
That is possibly going to guide what this is used for.
And the answer may be different project or project, but this is going to be
those huge conversations.
What is the end goal of this? Is it to prevent?
Is it to, you know, assist, to save?
Is it, as you said, you know, eugenics?
So we just don't know this.
It's so big around legislation
and governmental issues and privacy issues and opting in and opting out.
And how long do people hold on to this and what do you do with it,
and do you really get rid of it?
And I think it is so complex and multi-layered
and invested partners have to be involved in every step of the way.
And I do feel like a broken record
but it truly is proactive versus reactive, much to what Natasha just said.
We all must be involved now, not later,
in order to prevent this very real concern.
And I just wanted to add one thing to that.
That's one reason why and the part
that Mariana did so well, there is a focus on terminology, right?
So it can be so easy to use words
interchangeably that don't necessarily mean the same things.
We may be saying, our whole genome, whole genome,
and then sometimes switching to early identification, well,
those aren't necessarily always one in the same.
And so again, really having to be very thoughtful
about what we're saying and what's the meaning behind it.
And again, oftentimes it is when someone who hasn't been
in the conversation for a very long time, you know, fresh eyes can oftentimes
see things that groups kind of have just taken for granted.
So just wanted to add that.
I have another question.
So as a public health nurse, I work in newborn screening
and we blood spot as well as the EHDI space.
Sequencing has been prominent
with blood spot for several years, and significant concerns,
some of which have been discussed here have come up regarding privacy,
consent, ethics, long term impacts such as health insurance, life insurance.
While it potentially creates the diagnostic odyssey,
the variants of uncertain significance can add additional diagnostic testing,
physical burden and significant anxiety for families.
How do we balance these risks with the potential benefits?
And do you see genomic sequencing and newborn screening from private testing
before potentially moving into the public health arena.
I’m feeling
you're all going to get sick of me saying that's a great question
and that's the question we need to be asking.
But it's the truth. Right? And,
you know,
there is a lot a lot in that and that in that question.
I think that there are certain
groups or even, say, silos who are having these conversations in terms of
what does this mean from the laboratory perspective,
What does it mean to be changing technology at that level?
And that's important.
That is but that is only one slice of the overarching conversation.
We have to also remember, and when we say sequencing, that can be
in a lot of different things, that could mean whole genome sequencing,
which is what Mariana, the video was discussing.
But it can also mean sequencing
one gene for one particular condition or set of genes for that condition.
Right? So there is a difference there.
And on the one hand that's nuance, but on the other hand
it's really important to call out that very often
in the broader discussions, it's all just lumped under sequencing
or next generation sequencing, which makes this even more complicated.
Again, it's one of the reasons why I think having different voices
or new voices in May, all those conversations
that say is really helpful because it is those fresh eyes who say, wait, excuse me,
what do you mean by that?
And then someone says it, and then you noticed, I didn't realize they meant that.
I thought they meant
what was in my mind again, when we're at the beginning of this work.
So it's really important to have those
not checks and balances, but those opportunities
to reaffirm what we really mean and to track where we evolve.
Whether that's language, but also philosophy and perspective of
what is the end goal, what really matters.
Yes, I agree, and I love that question,
I can say from my perspective in North Carolina, I'm
very familiar with the things that are happening with Early Check.
But and I also have a public health genetic counselor
that serves our entire state that is in my unit,
and she will bring research articles or published articles about this.
To me,
it is in the early stages
and it's I think
maybe the biggest point we want to make
is that we want to bring all these voices to the table
at this time
when it is in its formative, in its development,
so that all of the considerations, all of the concerns,
all of the questions that we all get put on the table
before we get policies or regulations
that push us down a single path.
And I think this is a really unique opportunity
and I am so grateful for Natasha bringing this to this meeting.
We're just one community that should be involved in this
in North Carolina, we're sequencing over 200
genes, so diabetes being one of them.
And there are a lot of communities like us that are having
the same kinds of questions and we want to bring as much information
And as many of these perspectives including,
almost at the top, probably at the top, the concerns of families.
If we're doing newborn sequencing
to the conversation early.
And I think that may be
kind of the point we wanted to make with this presentation today was
this is an opportunity that's in front of us now
at this stage where we can make
a difference and
reach out and learn.
It's a complicated topic, but reach out, learn, participate
and see where we can fit in.
I can't think of a better.
Is there another question?
I mean, I just have one thing to say, which is that
if disability is accepted more in our society,
then we would have the support of the nation
from so many different perspectives,
from deafness, from Barre
syndromes, from anything, to say
It doesn't matter what is found.
That person deserves services, that person deserves to be cared for.
And so if we are starting that change in attitude now
that when the insurance companies get that information,
they can't hold it
against the patients, they can't withhold services
that we're not trying to [inaudible] race, identities.
And so if we are not starting that now, we're behind.
And I think that that
- [Applause]
Thank you so much for saying that, because that is really
what this conversation should center around.
You know, people who know me and work with me know I’ll stay on the technology
and I don't even upgrade my iPhone.
New technology. Great. That's nice.
But it's really about how are we truly making the lives
of individuals and families better and how are we tracking that
and how are we holding ourselves
and our communities and systems accountable to that?
Not just more data, not just a faster way to do something,
but really that care and consideration.
And so with that, I will close out this panel.
Thank you so much to both of you for being here sharing your inputs,
and to the audience. [Applause]