As Ingrid said, I'm a genetic counselor and one of the project managers for the BabySeq
As Ingrid said, I'm a genetic counselor and one of the project managers for the BabySeq

Project. And today I just wanted to talk to you about some of the family experiences that
Project. And today I just wanted to talk to you about some of the family experiences that

we've had so far. We've been enrolling for about six months, so now we're just starting
we've had so far. We've been enrolling for about six months, so now we're just starting

to see some of the outcomes of what our family is doing with this information. Is it starting
to see some of the outcomes of what our family is doing with this information. Is it starting

to be helpful for them? And so I'm going to present about two specific babies, both of
to be helpful for them? And so I'm going to present about two specific babies, both of

which we've made up fake names for. So the names that I'll be using are not their real
which we've made up fake names for. So the names that I'll be using are not their real

names.
names.

So Baby number one is Baby Maya, and we enrolled her when she was 10 days old. She was in our
So Baby number one is Baby Maya, and we enrolled her when she was 10 days old. She was in our

neonatal intensive care unit, because she was diagnosed with a rare and complex heart
neonatal intensive care unit, because she was diagnosed with a rare and complex heart

condition prenatally, called Tetralogy of Fallot. And after this was diagnosed on prenatal
condition prenatally, called Tetralogy of Fallot. And after this was diagnosed on prenatal

ultrasound, the family was approached about a research study to actually look at different
ultrasound, the family was approached about a research study to actually look at different

imaging during the prenatal period, to see how babies with this type of heart condition
imaging during the prenatal period, to see how babies with this type of heart condition

develop over time. And so, as part of this study, mom had a fetal MRI, and on that MRI
develop over time. And so, as part of this study, mom had a fetal MRI, and on that MRI

they actually saw that Baby Maya also had something called a duodenal atresia, which
they actually saw that Baby Maya also had something called a duodenal atresia, which

is a problem in the small intestine that actually causes the intestine to not be connected completely.
is a problem in the small intestine that actually causes the intestine to not be connected completely.

So it's a blockage. And so, even though Baby Maya's heart needed to be repaired eventually,
So it's a blockage. And so, even though Baby Maya's heart needed to be repaired eventually,

this duodenal atresia actually ended up being a much more immediate surgery that was needed.
this duodenal atresia actually ended up being a much more immediate surgery that was needed.

So this is Baby Maya while she was in the NICU, right after she had the surgery to correct
So this is Baby Maya while she was in the NICU, right after she had the surgery to correct

the duodenal atresia in her first week of life. So we like to assess parents' motivation
the duodenal atresia in her first week of life. So we like to assess parents' motivation

in enrolling. “What are they hoping to learn? What are they hoping to get out of this?”
in enrolling. “What are they hoping to learn? What are they hoping to get out of this?”

And for Maya's family, they were very grateful that they were able to be diagnosed with this
And for Maya's family, they were very grateful that they were able to be diagnosed with this

duodenal atresia through their participation in the original research study. So it really
duodenal atresia through their participation in the original research study. So it really

allowed them to be more prepared after birth, for this not to be a surprise, which is oftentimes
allowed them to be more prepared after birth, for this not to be a surprise, which is oftentimes

when most of duodenal atresias are diagnosed, are just by chance after birth, when the baby's
when most of duodenal atresias are diagnosed, are just by chance after birth, when the baby's

having problems with feeding. So they were able to schedule the surgery, to have less
having problems with feeding. So they were able to schedule the surgery, to have less

surprises, and actually to just cope better overall with it. And because of that positive
surprises, and actually to just cope better overall with it. And because of that positive

experience in research, they really felt that research in -- participation in other research
experience in research, they really felt that research in -- participation in other research

where they can get more information could only be helpful.
where they can get more information could only be helpful.

So Baby Maya was in the genomic sequencing arm, so she did get genetic sequencing. And
So Baby Maya was in the genomic sequencing arm, so she did get genetic sequencing. And

even though we looked very closely at genes that we know can be associated with Tetralogy
even though we looked very closely at genes that we know can be associated with Tetralogy

of Fallot and duodenal atresia, we weren't able to find a genetic cause that fully explained
of Fallot and duodenal atresia, we weren't able to find a genetic cause that fully explained

the birth defects that she was born with. She was found to be a carrier for two rare
the birth defects that she was born with. She was found to be a carrier for two rare

genetic variants, which again we would not assume would affect her health, but gave her
genetic variants, which again we would not assume would affect her health, but gave her

parents more information about possibly testing themselves for carrier status, to see if a
parents more information about possibly testing themselves for carrier status, to see if a

future baby they might have could be at risk for one of these two rare conditions.
future baby they might have could be at risk for one of these two rare conditions.

By happenstance, the day after disclosure with our study team, Baby Maya's family was
By happenstance, the day after disclosure with our study team, Baby Maya's family was

actually scheduled to see a clinical geneticist for follow-up. So right after she was born,
actually scheduled to see a clinical geneticist for follow-up. So right after she was born,

she was seen by a geneticist in the -- while she was in the NICU. And she was just going
she was seen by a geneticist in the -- while she was in the NICU. And she was just going

back to hear more about what other testing options or information might be able to be
back to hear more about what other testing options or information might be able to be

provided. So we sent the genomic sequencing report to the clinician, so that he would
provided. So we sent the genomic sequencing report to the clinician, so that he would

have that ahead of time, before seeing Maya in clinic, and have that additional information.
have that ahead of time, before seeing Maya in clinic, and have that additional information.

And there was actually a conversation between that geneticist and myself and one of our
And there was actually a conversation between that geneticist and myself and one of our

lab scientists, to talk about what was looked at -- the specific genes that had been looked
lab scientists, to talk about what was looked at -- the specific genes that had been looked

at more closely, and the different limitations in testing. And the clinicians' response was,
at more closely, and the different limitations in testing. And the clinicians' response was,

"This is excellent timing. We're seeing the baby in 30 minutes, and this is very helpful."
"This is excellent timing. We're seeing the baby in 30 minutes, and this is very helpful."

So we talked quite a bit about what additional testing might want to be ordered -- exome
So we talked quite a bit about what additional testing might want to be ordered -- exome

testing isn't very good at finding small deletions and duplications within the gene, and so he
testing isn't very good at finding small deletions and duplications within the gene, and so he

was going to look more closely into ordering that specific test, now that he had this information.
was going to look more closely into ordering that specific test, now that he had this information.

And it probably cut out a lot of tests that he maybe would have ordered in the meantime,
And it probably cut out a lot of tests that he maybe would have ordered in the meantime,

and before that. And this is Baby Maya now -- absolutely adorable, doing very well. And
and before that. And this is Baby Maya now -- absolutely adorable, doing very well. And

she's got the repair for her heart surgery coming up later this month.
she's got the repair for her heart surgery coming up later this month.

So the second baby I wanted to talk to you about is Baby Emma, and we enrolled her, also
So the second baby I wanted to talk to you about is Baby Emma, and we enrolled her, also

from the NICU. So she was 18 days old when we enrolled her. And she was admitted to the
from the NICU. So she was 18 days old when we enrolled her. And she was admitted to the

NICU after some birthing complications, where they thought she was having some health problems
NICU after some birthing complications, where they thought she was having some health problems

related to oxygen shortly being cut off during birth. She also had a sixth finger on one
related to oxygen shortly being cut off during birth. She also had a sixth finger on one

of her hands, which is actually something we see fairly commonly in the population,
of her hands, which is actually something we see fairly commonly in the population,

and that was removed without any incidents. Later on she was found to fail her newborn
and that was removed without any incidents. Later on she was found to fail her newborn

hearing screen, which again isn't too abnormal, to fail the initial hearing screen, but further
hearing screen, which again isn't too abnormal, to fail the initial hearing screen, but further

workup later on actually diagnosed her with bilateral moderate to severe hearing loss.
workup later on actually diagnosed her with bilateral moderate to severe hearing loss.

And we do know that hearing loss is one type of condition that can have a lot of genetic
And we do know that hearing loss is one type of condition that can have a lot of genetic

causes to it.
causes to it.

So in terms of motivations to enroll, both parents had a scientific background. They
So in terms of motivations to enroll, both parents had a scientific background. They

both worked on various types of research studies, and they just said they were interested in
both worked on various types of research studies, and they just said they were interested in

participating in research, and in general were what we call "information-seeking parents"
participating in research, and in general were what we call "information-seeking parents"

-- people who want to know more information up front. Baby Maya was randomized to the
-- people who want to know more information up front. Baby Maya was randomized to the

control arm, though, so she did not receive any genomic sequencing.
control arm, though, so she did not receive any genomic sequencing.

On the day of the results disclosure, Baby Emma's otolaryngologist who was following
On the day of the results disclosure, Baby Emma's otolaryngologist who was following

her for the hearing loss, had contacted our study team to see if -- because she knew that
her for the hearing loss, had contacted our study team to see if -- because she knew that

Baby Emma was in the study, if they had done genomic sequencing, if any hearing-loss genes
Baby Emma was in the study, if they had done genomic sequencing, if any hearing-loss genes

had been found -- mutations in hearing-loss genes had been found on our report. Unfortunately,
had been found -- mutations in hearing-loss genes had been found on our report. Unfortunately,

because Emma was in the control arm, we didn't have any genomic information to share with
because Emma was in the control arm, we didn't have any genomic information to share with

her, but because we had collected DNA as part of our research study, and because the testing
her, but because we had collected DNA as part of our research study, and because the testing

that we're doing is all done under clinical standards, we still had that DNA available
that we're doing is all done under clinical standards, we still had that DNA available

for that otolaryngologist to order additional clinical testing on. So we at least saved
for that otolaryngologist to order additional clinical testing on. So we at least saved

Baby Emma another blood draw. And they are, I believe, planning on ordering the hearing-loss
Baby Emma another blood draw. And they are, I believe, planning on ordering the hearing-loss

panel at their next clinic appointment.
panel at their next clinic appointment.

Some other reasons why we're finding families are enrolling in our study -- if one parent
Some other reasons why we're finding families are enrolling in our study -- if one parent

was adopted, and therefore maybe didn't have a lot of information about their own biological
was adopted, and therefore maybe didn't have a lot of information about their own biological

family, and maybe what health concerns run in their family. We're finding people are
family, and maybe what health concerns run in their family. We're finding people are

more motivated to try to learn about the genetics of their child. Also, we're finding quite
more motivated to try to learn about the genetics of their child. Also, we're finding quite

a few people who have used an anonymous sperm or egg donor for various reasons, are more
a few people who have used an anonymous sperm or egg donor for various reasons, are more

interested in learning about the genetics of their child. If there's a specific history
interested in learning about the genetics of their child. If there's a specific history

of a genetic condition in the family, we're finding people are interested in enrolling,
of a genetic condition in the family, we're finding people are interested in enrolling,

as well as parents who are just curious, or interested in genetics and research and what
as well as parents who are just curious, or interested in genetics and research and what

to know more -- you know, based off their just interest on genetics itself.
to know more -- you know, based off their just interest on genetics itself.

So in conclusion, genomic sequencing reports from the BabySeq Project can help clinicians
So in conclusion, genomic sequencing reports from the BabySeq Project can help clinicians

think about a patient's diagnosis. So in the case of Baby Maya, I really think it helped
think about a patient's diagnosis. So in the case of Baby Maya, I really think it helped

that clinician figure out what testing he didn't need to order, and more quickly jump
that clinician figure out what testing he didn't need to order, and more quickly jump

to the testing that could be more specific to her. Genetic results have been requested
to the testing that could be more specific to her. Genetic results have been requested

for some of the babies in our control arm, and so we're finding that had they been in
for some of the babies in our control arm, and so we're finding that had they been in

that genomic sequencing arm, perhaps a diagnosis could be found a little bit faster for the,
that genomic sequencing arm, perhaps a diagnosis could be found a little bit faster for the,

if that information was available. We're also finding that genomic sequencing is identifying
if that information was available. We're also finding that genomic sequencing is identifying

carrier status in families. Nearly all of our genomic reports so far have identified
carrier status in families. Nearly all of our genomic reports so far have identified

at least one carrier status in the babies, and we have not yet identified a risk factor
at least one carrier status in the babies, and we have not yet identified a risk factor

or something, that would actually diagnose the child. So, so far what we're finding mostly
or something, that would actually diagnose the child. So, so far what we're finding mostly

is carrier status only. And then -- whoops. That didn't need to be so dramatic, but -- families
is carrier status only. And then -- whoops. That didn't need to be so dramatic, but -- families

have very different motivations for enrolling, so we're finding kind of a wide variety of
have very different motivations for enrolling, so we're finding kind of a wide variety of

reasons why families want this information. We have a very large project team at Brigham
reasons why families want this information. We have a very large project team at Brigham

and Women's, Boston Children's, and Baylor College of Medicine, and I've got everyone
and Women's, Boston Children's, and Baylor College of Medicine, and I've got everyone

listed here. And thank you.
listed here. And thank you.

Female Speaker: So, thank you everyone for listening in today
Female Speaker: So, thank you everyone for listening in today

for our 2015 update on the NSIGHT projects. We hope that the presentations today have
for our 2015 update on the NSIGHT projects. We hope that the presentations today have

been informative, and if you do have any further questions or comments about the presentations,
been informative, and if you do have any further questions or comments about the presentations,

please feel free to reach out to the media contacts that are listed on the website, where
please feel free to reach out to the media contacts that are listed on the website, where

there will also be a recording of these presentations and the slides available for your further
there will also be a recording of these presentations and the slides available for your further

perusal Thank you very much.
perusal Thank you very much.

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