Barbara Koenig: So, good morning. My name is Barbara Koenig,
and I’m at UCFS also, and I’m a medical anthropologist and I work in the interdisciplinary
field of biomedical ethics, and I’m part of the interdisciplinary team at UCFS. And
one of the nice things about these NSIGHT projects is the fact that we are working on
interdisciplinary teams to try and solve some of these problems together. The presentation
I’m going to do today is based on a paper that’s about a peer in the Journal Pediatrics
in a special supplement edited by John Lantos. And many of us in the NSIGHT project participated
in that, as well. And the presentation and some of the images that I’m going to show
you were created by one of our genetic counseling students whose part of the project, Charlotte
Young, so I want to give her credit, as well. So we have our ELSI project at UCFS actually
has four components, including what I’m going to talk about today. What I’m going
to talk about today are some of our work to engage stakeholders to really find the views
of some of the pregnant and other patients who might be screened with newborn screening.
We also have a project looking at legal issues, and some of the constitutional issues in implementing
expanded newborn screening in the United States. And we also have established a National Ethics
and Policy Advisory Board which is debating some of these issues in great detail. But
today I’m going to talk just about the -- some of our -- one of our projects.
So we all know -- we’ve heard -- and we heard from Cynthia Powell in the first discussion
about what happens in newborn screening currently. A baby is born, and then there is a newborn
blood spot taken by taking a little heel prick which you can see that blood is then put on
a -- one of these Guthrie cards which were -- which are -- which is really an old technology.
It’s then sent to a state laboratory, or a laboratory that the state contracts with.
This is, sort of, a great -- a funny image of it -- of what a lab looks like. I think
the state labs actually somewhat different than this. And then currently under the -- under
the current rules and guidelines we screen for a number of disorders -- for some endocrine
disorders, for some metabolic disorders, disorders in the hemoglobin which are called hemoglobin
apathies; several combined immune deficiencies which my colleague, Jennifer Puck just talked
to you about, as well as, cystic fibrosis. And I should say that Dr. Puck was really
instrumental in getting the SCID -- this new SCID biomarker on to the newborn screening
program in California and through the rest of the county, and that’s been a leader
in that. But those disorders that are on this panel have had to meet certain kinds of criteria
in order to be included which have been very, very stringent. And I just want to go through
those again, because it’s very important to make sure that we understand that.
One, they had to be very well-understood, very well established conditions where we
know the natural history of what happened to the condition and that they were -- and
the conditions were serious and also had -- and then finally, where they had some kind of
treatment had to be available. So we didn’t -- we didn’t generally, traditionally in
newborn screening, and we talked about PKU as the sort of archetypal classic example
of that. And expanding beyond that has been complicated, and we have used a set of criteria
called the Wilson Jungner criteria, which were developed by the WHO in establishing
that. So we all want to have the outcome being very healthy babies, and so why wouldn’t
we just keep adding more and more conditions to the newborn screening panels? What if we
could screen for more disorders, and that’s really one of the primary purposes of the
NSIGHT network. And the whole genome sequencing whether you do a just the exome or whether
you do the whole genome, although the technologies are quite different, they both have the -- have
some features that make them a bit complicated. Particularly they reveal a lot of additional
information than those standard criteria that we just -- that I just went through and that
Cynthia Powell also talked about earlier. They can reveal some of these adult onset
disorders. They can reveal -- another category of finding is what are called pharmacogenomics
variance, which predict response to particular drugs that might be used in childhood. So
that might also be useful to include.
We also know that there’s a certain inherent uncertainty in some of the results that we
get with sequencing, and that’s partly because we’re constantly revealing what are called
variants of unknown significance, which need to be accounted for. So we have -- so whole
genome sequencing raises all these different variables. So how do we deal with that? Well,
one of the purpose -- one of the things that we’re doing in our project is to figure
out a way of engaging with different stakeholders who have a stake in what the public policy
about these issues should be. So you know that you’re in the ELSI ram or realm, or
the ethical, legal and social realm, if you start asking the "should" question -- questions
on how we should do some of these new -- use some of these new technologies. To answer
that, and to address one particular stakeholder group, we did a series of focus groups at
UCFS, and we created five groups, and as you’ll see, one group included parents of these patients
with immunodeficiency, and they were recruited from Dr. Puck’s clinic of patients who have
that disorder. So that was one category. We wanted to get the voices into the policy debate
of individuals who had that experience of having either been missed by newborn screening
or actually where their SCIDs was actually and then they were treated with bone marrow
transplant.
The other four groups were with expectant mothers, because we know if people are going
to be getting all this additional information, we -- we’re working on the hypothesis that
is might be a good idea to move some of this discussion into the third trimester of pregnancy
rather than doing it all at the last -- after the birth of the child, in terms of thinking
about what should be covered by newborn screening. So we created four focus groups of expectant
mothers -- two groups were conducted in English and done at an academic medical center in
California, and we had two additional groups that were done at a public hospital, and we
did this purposefully to try and increase the diversity of our samples. So we -- across
all the focus groups, we had a very diverse population and one group -- one focus group
was actually conducted in Spanish because a large percentage of the babies born in California
are born to Latina woman. So this -- the -- so we did one group in Spanish and then translated
the results into English.
So in the focus groups we talked to the individuals about -- and they were about two and a half
hours long -- we talked to them about five different topics. We really -- we asked them
about the current newborn screening program and what they thought about it. It turns out
most of them -- even those who’d had babies didn’t remember the newborn screening program.
Most people don’t know enough this as a -- it really -- it’s very interesting that
it’s such an important program. It’s really the first test that everyone gets, but very
few people know much about it. We talked to them about the potential expansion with whole
genome sequencing. We talked about the types of results that could be revealed, and we
also talked about the general question about how they felt about whether permission should
be asked of them before these tests be done. Either the, sort of, initial clinical newborn
screening which is a public health program and essential mandated or -- and this is also
another issue -- the later storage of those blood spots for other kinds of uses. And as
many of you know, that issue has become highly controversial recently with several collections
of blood spots in two different states, Minnesota and Texas, being destroyed because of concerns
about this issue around permission. And I’m specifically using the idea of permission
rather than the more technical term of consent, because I don’t want to prejudge the discussion,
because perhaps we don’t need an elaborate written consent process -- maybe we need some
kind of a clinical discussion. So we won’t -- we tried in our focus groups to leave that
open.
So I’m going to briefly give you some results from those focus groups, and I’ve divided
those finding into four different categories -- traditional newborn screening, the questions
around asking permission, return of results and storage. So just a few quotes to bring
those individuals into the room. So, in terms of traditional newborn screening, in everyone
that we talked to was very, very enthusiastic. I mean, this is because people experience
it as a duty, as a duty of being a parent to participate in a program like this and
get information. So, traditional newborn screening was something that people were quite enthusiastic
about, although they also had cautions and expressed cautions about the idea of the state
maintaining collections of information which might be able to predict their baby's future
health. They also want to know more about it, and this is a quote from someone at the
academic medical center -- “I want to be the one who’s making the decision so having
these choices and anything else being laid out to me before hand and being able to have
a good conversation with my doctor about it I think is a very critical part. I think everyone
would want something like that.” So there was an enthusiasm for newborn screening -- enthusiasm
and a great endorsement of the idea that this should not be done just after someone had
delivered and at that moment of chaos.
On the question of asking permission, people were divided, and so it’s -- this is a very
complicated -- this is a complicated dynamic. And the discussion here, and the interaction
between the parents who had experience of a seriously ill child informs the debate in
a different way than people who are just thinking about this hypothetically. There also is some
concern about lack of trust from certain populations, so we had some extreme positions like individuals
saying, “Well, I’m concerned about this. You know, I’ve heard that they kill babies
over that other -- on the other side of town.” And so many people suggested, although there
were just competing views about this -- that is was a good idea, “You, you would -- if
you were more -- you would become more trustworthy if you were more open about what you were
doing,” and that that was an important consideration.
So I just want to read a quote from a parent of a child with primary immunodeficiency.
“If you haven’t been in that position, it’s very easy to say no,” and this person
was very worried about the fact that it would be so easy to say no to newborn screening.
“You might just want to have your baby -- you might want to avoid the heel prick even, but
not taking the test would mean you wouldn’t know something that could literally threaten
your child’s life. Even if you ask them when they’re pregnant before they deliver,
I don’t think that you’re capable of truly understanding the risky situation of not doing
the test. I’m glad that that test -- that part was mandatory.” So people went back
and forth about the issue of whether this should be mandatory and how much we should
rely on consent. On the question of return of results and, in particular, we divided
this up into categories. One category we talked about with the focus groups were pharmacogenomics
-- this idea of predicting drug response and people were very, very enthusiastic about
that. “As a mother, you’re going to worry about that, and want to make sure they’re
getting the medication that works for them. There’s nothing that I don’t want to know.”
And this reflects also a very common theme, especially in the United States, the idea
that information in itself is useful.
The question of some of the adult onset or other disorder was more complicated as Dr.
Powell indicated earlier. We actually used two case examples and talked through those
in our focus groups, and those were breast cancer and Alzheimer disease because they’re
sort of classic examples of things that could be identified. One that has an action that
that you can -- some actions that you can take in the case of breast cancer -- others
where there are fewer things to do now -- Alzheimer. And again, this discussion also revealed this
tension between ignorance is bliss and knowledge is power. "A lot of times, even if the condition
is something that might affect you years later there’s things you can do -- a, kind of,
better -- to, kind of, help better the scenario so I’d rather know. You’re just going
to freak me out my whole life and then I won’t get it anyway. I mean, what’s the point
and then just living your life out of fear.” So people actually voiced this concern about
living there lives in relationships to something that might not actually transpire.
And finally, on the questions of storage. It’s interesting that people immediately
were not so much concerned. Although they mentioned the privacy and the issue of control,
they also raised something that we hadn’t really considered, which was the idea that
it might be useful to store this information and be -- use it later to benefit an individual
child’s health -- perhaps give the information to the -- to the pediatrician. And here’s
an example of one quote. “You know, in case anything comes up -- like say your child is
epileptic and seizes and goes into some kind of coma and they don’t know why. Okay, well,
let’s go to the genetic records and see if that child is at risk for epilepsy.”
So, there was again a lot of consideration of the possibility that having this information
and that it could possibly be stored for the child’s lifetime. Okay, "If you stored it
and you could go back and you could try and figure it out -- some of this -- findings
like Alzheimer’s or breast cancer,” those were the examples, “But my decision to know
information today and my decision to know information 10 years from now is not going
to be the same. You’re opening up a whole can of worms by asking me and then freaking
me out.” So again, people were -- there were concerns about having that information
available and revealing essentially as a crystal ball for the future.
So, I’d like to conclude -- our paper summarizes several policy relevant findings. First, there’s
a clear preference for moving newborn screening education into the prenatal period. There
were divided views on the value of formal informed consent for expanded newborn screening.
Preference for return of result, such as the pharmacogenomics and some concerns about revealing
adult onset conditions. And then hopes, as well as concerns about state mandated screening.
But on the whole, people were comfortable with the state mandate to many, and with the
issue of not having formal informed consent be part of the clinical application of testing,
which I think is interesting. Okay, I’m going to now thank our collaborators at UCFS.
We have a big team including the California Department of Public Health, collaborators
at UC Berkeley, such as Steven Brenner, The Hastings Center in New York, UC Hastings College
of the Law and we also -- so thank you very much for your attention. I’m going to turn
it over to -- I’ll let you do that. Thanks.
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