Newborn Screening: System Frameworks and 
Quality Assurance OneLab Webinar

Let's go ahead and get started. So, welcome, everyone, to today's OneLab Network 
event. My name is Chelsea Parsons and I’m a consultant with Guidehouse supporting CDC's 
OneLab initiative. I have a couple of notes about the webinar before we dive in today. If you're 
having any technical issues throughout, you're more than welcome to email our inbox at 
OneLab@CDC.gov. That's OneLab@CDC.gov. You'll see that pop up in the chat there. If you have 
any questions that are coming up with today's webinar technically, you can go ahead and reach 
out to that email address. However, if you have questions throughout the session related to the 
material that we're discussing today with newborn screening system frameworks and quality 
assurance, you can post that into the Q&A function. 
So, you'll see down in the bottom ribbon we have a Q&A function and in there you can 
post questions to the presenter about the content. We'll also have closed captions available if 
you need them today. So, please note that the link to those are going to be posted in the chat. If 
you would like to use closed captions today, please open up that link and keep it separate from 
the link we have to open up the Zoom. So we can go ahead and get to the agenda. 
Today we will start by discussing some new OneLab resources and then we’re going to 
go through introductions of our speaker today. We'll have about a ten-minute Q&A session after 
that presentation led by our speaker and that's where we'll go through as many of those Q&A 
questions as we possibly can. If any questions arrive following the event, again, you're more 
than welcome to contact our email at OneLab@CDC.gov. That's OneLab@CDC.gov. 
If we don’t get to your question today, that you put in the Q&A function, we will do our 
best to reply back to you via email, just as long as you don't submit it anonymously. Finally, 
today’s session will end with the discussion of upcoming OneLab events. So let’s go ahead to the 
next slide. So, just wanted to note for today's webinar, we will be leaving the chat feature open 
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Alright, so now I’ll turn over to our OneLab Network lead, Alicia Branch, to share some of our 
new and relevant resources and introduce us to our speaker today. Alicia? 
Thank you, Chelsea. Before the main presentation, I would like to share a CDC 
Laboratory Outreach Communications System, or LOCS, message, and the release of a new 
OneLab training resource. On July 17th a CDC LOCS message was sent announcing the 
publication of the new desk reference graphic: "Conjunctival Swab Specimen Collection for 
Detection of Avian Influenza A(H5) Viruses." The infographic describes the procedures for 
collecting, storing, transporting from suspected infection and confirmed infection patients for 
avian influenza A(H5) testing. 
You can view the graphic using the link in the chat. And if you have any questions about 
this graphic, please send them to LOCS@CDC.gov. Next slide, please. In our ongoing 
commitment to delivering high-quality accessible and relevant training, we are thrilled to 
announce the release of our first mini lesson, Public Health Laboratories 101. Mini lessons are 
designed to provide a concise and engagement learning experience, making it easier to absorb 
key concepts quickly and efficiently. This mini lesson is informative, it’s interactive, and it's easily 
accessible and available on OneLab REACH. You can find the link in the chat. 
Next slide, please. Now I’ll read a P.A.C.E. disclaimer followed by introducing today's 
speaker. CDC, our presenters, our planners, wish to disclose that we have no financial interests 
or other relationships with the manufacturers of commercial products, suppliers of commercial 
services, or commercial supporters. And I’m excited to introduce our presenter for today. 
Dr. Carla Cuthbert, the branch chief of the Newborn Screening and Molecular Biology 
Branch and in the Division of Laboratory Sciences at CDC. Since December of 2009 she has 
provided leadership and oversight to the newborn screening and molecular biology branch. This 
is a branch comprised of several laboratories that support performance evaluation of domestic 
and international newborn screening programs as a proficiency testing provider and by creating 
and distributing other quality assurance reference materials. She's excited to share an overview 
of the newborn screening system and the critical role of quality assurance, technical assistance, 
and the success of newborn screening programs nationwide. Our presenter for today is Dr. Carla 
Cuthbert. Over to you, Carla. 
Thank you for that kind introduction. It is a pleasure to always be able to speak about 
newborn screening. As chief of this branch, I am surrounded by wonderful scientists. As a 
member of the newborn screening community as a whole, I am always in awe of the passion of 
the scientists and the people that are involved in this big community and really, what I want to 
get across today is that it's not just a test. It is a wonderful system, of very, very passionate, very 
driven individuals and we really are working towards making things better. 
Today I’m going to be talking about newborn screening system as a whole, laying the 
foundation of where we have been because that gives us some sense of where we're going to 
be going. I’m going to talk to you a bit about quality assessments and technical assistance in 
being able to nudge us towards a better outcome and to making things better in the system as a 
whole. So thank you again for tuning in to this OneLab Network event. And we're going to go to 
the next slide. Thank you. So — no. Back to the outline. So the outline for today, we're going to 
separate the session into three parts. First, I’ll start about talking about the history and the 
evolution of newborn screening. From there we're going to discuss the newborn screening 
system and the multiple processes and partners that must come together to make this work. 
And from there we'll end with a discussion of the importance of quality assurance and technical 
assistance across the entire system. 
Next slide. So let's start with some history of newborn screening, and a discussion of 
how the system continues to evolve. Next slide. To truly appreciate how newborn screening 
came to be, it's important to really start at the beginning. So for newborn screening and 
phenylketonuria or PKU, this beginning really highlights the remarkable role of advocacy. If we 
look at the advent of newborn screening for PKU, we can go back to 1934, when a Norwegian 
mother fought to understand the cause of her child's — of her children's developmental delay, 
leading to the discovery of PKU as a disease. 
Moving along to 1951, the treatment of PKU, which is the removal of phenylalanine from 
the diet, this was largely discovered due to the perseverance of a British mother with a child 
that had PKU. And from there, if we go across the pond into the 1950s, we see that the creation 
of two tests for the earlier diagnosis of PKU came about through a wet-diaper ferric chloride 
test that came out of L.A. And a short time later, there was a bacterial inhibition assay 
developed by Dr. Robert Guthrie out of Boston, and this would later form the basis of the first 
newborn screening test. 
Next slide. Because of Dr. Guthrie's own experience with the late diagnosis of PKU in his 
niece, he became very much an advocate himself, remarking on a number of occasions that this 
PKU test should be available to all children. To make this happen, he worked with public health 
officials to mandate the screening rather than implement it as part of a medical system standard 
of care. Next slide. Around the same time as the advent of newborn screening for PKU, there 
was a general shift in public health to focus on chronic disease, as well as a desire to focus on 
prevention in developed countries. 
So in 1968, the World Health Organization, or W.H.O., commissioned a report from 
Wilson and Jungner to provide a knowledge base on the principles and practice of screening. It 
is important to note this report was not focused on newborn screening, but rather, early 
detection through screening as a whole, including cancer and cardiovascular screening 
programs. Early on in this report, it's important to note that it made a very important point: that 
the idea of detecting a disease early, while it's admirable and really seems simple, it is, in fact, 
very complicated when you're thinking about the successful implementation at an entire 
population level. 
Next slide. One highlight of the paper is known as the Wilson and Jungner criteria, a set 
of ten components that should be met in a population screening program. In the interest of 
time I won't go through all of them, but I have highlighted a couple. The first are, the first points 
are number two and number three, which state that there should be an accepted treatment 
and availability of diagnosis of disorders, of diagnosis and treatment centers. Point number five 
is that we should, of course, have a suitable test. And finally, point number seven, that —
number nine, that the benefits of screening should outweigh the costs. 
You might notice that — by looking at some of these, if PKU were to be held to these 
criteria, it likely might not have met these guidelines at the time. Next slide. When considering 
the principles of screening, more diseases were added to newborn screening in subsequent 
years. At that time, however, the pace was largely limited by technology as these — as each of 
the diseases required development and implementation of its own assay. As a result, between 
1963 and the early 1990s, only five diseases were routinely being screened for in the United 
States. 
Next slide. This slow pace of expansion quickly changed with the use of two significant 
technologies that have greatly facilitated increased expansion in newborn screening. The first 
was the growing use of tandem mass spectrometry in newborn screening, which allows for 
numerous analytes to be measured from a single punch of the dry blood spot specimen. And 
the consolidation of methods into this one test has given a rise to a new paradigm screening 
called multiplexing, or "many diseases in one assay" model. Of course, as with many issues in 
screening, applying this technology can often be very far from simple. 
The technology essentially opened the floodgates and has given rise to discussions and 
differences in opinion as to what we might actually be calling screening when we're using this 
technology. Next slide. Secondly, building off the work done in the late 1990s, showing the 
ability to recover a substantial amount of DNA from dry blood spots, we've also experienced a 
growth in molecular-based or DNA-based assays in newborn screening. Molecular applications 
have primarily been employed in newborn screening to improve screening performance, 
especially when only four biochemical biomarkers exist. But more recently, DNA-based testing 
has been used to detect disease-specific variants in severe combined immunodeficiency and 
spinal muscular atrophy. 
Next slide. So until relatively recently, the expansion of newborn screening programs to 
include more and more diseases was largely limited by technological advances. But our ability 
now to multiplex testing using tandem mass spectrometry, the incorporation of genomic and 
exomic sequencing, as that develops, it has moved a barrier that we previously had, and we 
now need to have a bit of a shift in our thinking. Testing technology may no longer be the 
limiting factor. The limiting factor then becomes the availability of therapy and so we must ask 
ourselves, just because we can test, should we? And if the answer to that question is yes, we 
should, then we need to figure out, we need to consider, how do we do that in a way that 
allows for continued innovation but it needs to respect familial autonomy and privacy, and it 
doesn't exacerbate existing disparities and health outcomes for most children.
So lots of questions for us as we continue to move forward. Next slide. And 
ultimately, asking this question, asking these questions, if given rise to a number of initiatives 
that have been aimed at providing guidance at the federal level regarding which diseases truly 
meet screening criteria and we want those efforts to better harmonize screening practices 
across all of the states in the United States. The work created, this work, that responds to these 
questions have led to the creation of two importance entities. 
The first was the creation in 2004 of the federal Advisory Committee on Heritable 
Disorders in Newborns and Children, or the ACHDNC, which is overseen by the Health 
Resources and Services Administration, or HRSA. And secondly, the development of the — or 
the creation of the federally recommended panel of disorders called the Recommended 
Uniform Screening Panel or RUSP, which was a joint effort between HRSA and the American 
College of Medical Genetics in 2005. So using the ACHDNC and RUSP mechanisms and 
approaches, there have since been nine additional diseases that have been added to the RUSP 
since that time. 
Next slide. So let's talk a little more about the RUSP and its goal for 
harmonizing screening nationwide. The RUSP is made up of two distinct lists of diseases, the 
core conditions and the secondary conditions. The core conditions are those that are truly 
targeted by the assay. These conditions typically meet all of the screening criteria and as of 
today, there are 38 core conditions on the RUSP. Thirty-six of which are screened for by dry 
blood spot specimens and two are point of care. It's worth mentioning that Krabbe disease was 
the most recent addition, earlier in July. Secondary conditions are those that are incidentally 
picked up through screening for the diagnostic testing of these core conditions and they may or 
may not meet all of the screening criteria. And currently there are about 26 secondary 
conditions. 
Next slide. So it is sometimes easy to think that because newborn screening primarily 
focuses on rare diseases that its impact on the public's health is not as great. However, as this 
image shows, while individually, the diseases on a newborn screening panel are rare, 
collectively they're quite common, impacting more than 1 in 500 babies born in the United 
States. I just want to point out that there's just a typo on the number of disorders. I believe on 
this slide and the previous slide. That should say 36.
Next slide. So as growth in the number of diseases and the associated public health 
impact, these are not going away. In fact, this is growing, owing to the technological ability to 
screen for more diseases and the increasing number of rare diseases with the associated 
treatment. So predicted increases in the number of conditions and the ability to be able to 
identify more and more of these newborns is really only going to increase. 
Next slide. And understanding the evolution of our — this robust public health program 
and its ongoing and growing impact in 2011, newborn screening was named as one of the ten 
greatest public health achievements in the 20th century. And this designation continues as 
newborn screening has remained a successful public health program in the 13 years since. Next 
slide. So now that we understand how newborn screening started and how it's been evolving, 
let's take some time to discuss the current newborn screening system. Next slide.
While it is hard to sort of condense a complicated system like newborn screening into a 
simple slide, I have highlighted six key points that serve as important hallmarks of newborn 
screening within the US. The first is the newborn screening programs are public health 
programs, meaning that they are administered at a state level and that they are overseen by 
state personnel. However, truly successful newborn screening programs rely the on coordinated 
effort of many numerous partners across the spectrum of sectors. Secondly, newborn screening 
programs in the U.S. are also state based. And while federal recommendations do exist on which 
diseases are deemed appropriate for population-level screening, it really is up to each state to 
determine how to operate their own respective screening program and really, which diseases 
they will screen for. So, not surprisingly, this leads to considerable variations across newborn 
screening programs in the United States. 
The next point is that newborn screening programs in the U.S. operate under a quasi
mandate whereby explicit consent is not obtained from the family. The default is for the 
newborn screening to occur and families may choose to refuse or opt out of newborn screening 
on their child's behalf. Finally, newborn screening programs are designed to only screen for 
those diseases that have effective pre-symptomatic treatment.
This is really one of a number of criteria that diseases must meet in order to be added 
on to newborn screening panels. Next slide. When we think about the screening program itself, 
we think about six distinct but related parts. And this graphic is really meant to show the 
connectivity between them. We have screening itself, which occurs within laboratories and have 
a number of components to it. This is followed by notification and follow-up of those results, 
which leads to a diagnosis, timely intervention and management of the affected newborn. And 
underscoring these four parts are two components that span the entire system. Education, and 
evaluation and quality assurance. 
Next slide. Another important consideration of the newborn screening system are the 
legal foundations of newborn screening. As mentioned a couple of slides ago, newborn 
screening operates essentially under a public health mandate. Though parents can opt out or 
refuse to — refuse on behalf of their child. Two primary frameworks we utilize are shown here. 
It includes the Tenth Amendment which indicates that states have the power to regulate the 
receipt of medical care to protect the public's health, and a common law doctrine called parens 
patriae and that permits the state to make decisions for the health and the well-being of its 
citizens who cannot speak on their own behalf. In the context of newborn screening, this, of 
course, means the newborns. 
Next slide. This schematic illustrates that newborn screening, even with the use of 
molecular tests, is still really only a risk assessment. On the left we start with the seemingly 
healthy population of newborns and using a filter paper matrix, and examining a number of 
biochemical and molecular analytes or biomarkers relevant to disease, we separate out those 
that are at higher risk for having one of the screened disorders, shown in orange, from those 
who are at lower risk of being affected, and who pass through the screen essentially, and these 
are shown in green. 
The top of the middle panel, when we look at that part of the slide, because this is a 
screening program, any child that is identified as high risk needs to go on to have orthogonal
diagnostic testing to determine if the screening result was actually a true positive result. And at 
the top right panel, it is a true positive, of course, if the child is indeed affected with the target 
disease as a result of this testing and classified as a false positive if the child is found not to have 
the target disease based on orthogonal diagnostic testing. Looking at the bottom center and 
bottom right of the panel, we really need to remember that in screening, we really cannot 
forget about those who are deemed low risk by this initial process. While the vast, vast majority 
will indeed be unaffected or have true negative results, there does exist the real possibility that 
an affected child is missed by the screen and is thus, considered a false negative result. 
Next slide. The next three slides dive a little into the newborn screening, dry blood spot 
screening processes in a little more detail to illustrate various parts of the system. Looking at 
preanalytical parts of the process, families should be provided education about screening 
before the sample is collected. Blood samples should be collected between 24 and 48 hours of 
birth. The samples need to be dried for at least three hours. Specimens should be then sent to 
the newborn screening program within 24 hours of collection. 
Next slide. Once samples are received, we can look at the components of the analytical 
process. Specimens are accessioned and demographic information is collected. Depending on 
the test, blood from small punches will be extracted into 96 well plates. The blood that's 
extracted or the punches, these are analyzed either on biochemical or molecular testing 
platforms and the results are reviewed, assessed, and this information, the interpretation is 
then sent on to the follow-up staff. 
Next slide. Owing to the critical nature and the time sensitive nature of many of the 
diseases that are being screened for, results need to be made available very quickly. Results 
need to be available by day seven after birth and some cases a little earlier. Positive results are 
called out and normal results are submitted to the provider and families should be informed as 
soon as possible. 
Next slide. So while we've been focusing on the newborn screening process and the last 
previous slides, it is also really important to be able to put this into the context of the journey 
that would be experienced by the families with a rare genetic disorder. So we have this 
slide that shows very similar work flow, really from the point of view of a family. So newborn 
screening really is truly one part of the much larger system, and a larger system that needs to be 
in place to ensure that babies with these diseases can truly be identified, be put into 
appropriate treatment so that they can reach their full potential. 
Next slide. In the previous slides, I highlighted that newborn screening is a system 
involving and impacting numerous partners who must all work together to keep the family 
experience and the patient and health outcomes at the center. So, while we often discuss some 
of the obvious partners, public health labs, clinicians, researchers and advocates, this slide really 
centers us and reminds us that there are so many more partners at all different levels who need 
to be involved for a newborn screening program to truly be successful in meeting its vision and 
mission. 
Next slide. The system relies heavily on a number of national organizations and federal 
agencies to help ensure success and ongoing quality. We've listed a few. It's not an exhaustive 
list and not even an exhaustive list of what these entities actually do. The College of American 
Pathologists provides accreditation. Centers for Disease Control and Prevention administers a 
proficiency testing program and provides technical assistance and training and funding and 
other data analytic resources assist state programs. Centers for Medicare & Medicaid Services 
regulates clinical laboratory testing through the Clinical Laboratory Improvement Amendment, 
or CLIA. 
The Food and Drug Administration provides oversight of drug development and 
laboratory- developed tests. The Health Resources and Services Administration or HRSA 
provides funding and oversees the Advisory Committee on Inheritable Disorders in Newborn 
and Children and the National Institutes of Health provides funding for newborn screening
related research and pilot studies. So again, just to bear in mind that as federal entities, we do 
have regular meetings where we get together and discuss, from a federal point of view, issues 
that would be impacting a newborn screening. So again, this is — this indicates various different 
activities that reflect the different missions of these agencies, but we do come together to have 
discussions to ensure that we can leverage what the other is doing specifically in the arena of 
newborn screening.
Next slide. So the last point I wanted to highlight as we discussed the newborn screening 
system really goes back to the idea that newborn screening in the United States is state-based, 
and as I mentioned previously, this leads to wide variation in practices. These variations can 
include differences in which disorders are added, testing and follow-up practices as well as 
funding and infrastructure. This is well known and when state programs get together, they're 
very much aware of differences but I do — you know, in speaking to these programs, even 
though they come from very different situations, they really do lean into each other to be able 
to gain experiences that can be shared across their respective programs. 
Next slide. There are a number of resources that are available to programs that can 
assist them in understanding — to assist in understanding the system, and we wanted to be able 
to highlight some of these things as well. The first — the next slide — are some of the activities 
that we have in our own program at the CDC under the Newborn Screening and Molecular 
Biology Branch. We do — we're engaged in newborn screening test development where we 
develop new tests for new biomarkers or anticipated conditions. 
Also we spend some time looking at some tests that really require some improvement, 
enhancement. We provide technical expertise and technology transfer to be able to pass 
information on to the states through consultation, one-on-one visits, site visits, training 
opportunities and so on. And we create reference materials for both quality control and PT and 
other resources as it falls under our purview. 
Next slide. Programs should take a look at the Clinical and Laboratory Standards 
Institute, which is CLSI. CLSI has a wonderful resource that has a large suite of newborn 
screening guidelines and standards. You can see there are reports and standards that cover 
various disease-specific issues, and they address things like sample collection and testing 
methods, result interpretation, follow-up procedures, they really cover the gamut of a lot of the 
issues that newborn screeners would need to address. So a very valuable resource and it really 
can help the programs to ensure high quality, consistent, and reliable testing processes. 
Next slide. And programs really, really rely very heavily on this resource. It's the 
Newborn Screening Technical Assistance and Evaluation Program, or New STEPS. And this is 
overseen by the Association of Public Health Laboratories and it provides technical assistance, 
training, resources for continuous quality improvement, truly a wonderful site for state 
programs that cover, again, a spectrum of different kinds of activities and is a wonderful 
resource for state programs. 
Next slide. So for the last part of my talk, I wanted to highlight the importance of quality 
assurance and technical assistance across the newborn screening system. Next slide. To start, it 
is important that we're really using the same language and understand what Q.A. means within 
the context of newborn screening. It's not entirely just focused on laboratory aspects. Quality 
assurance in this context is the monitoring and evaluation of various aspects of the system to 
ensure that standards of quality are being met. And for newborn screening, Q.A. is a dynamic 
process of defining and measuring the quality of performance of the entire screening process. 
And as such, both internal and external quality assurance activities are needed for continuous 
quality improvement. 
Next slide. While many may think of quality assurance as being separate or unrelated to 
the patient, these activities put together are truly our key to ensuring the best health outcomes 
for patients and families. Quality assurance and newborn screening includes but is not 
necessarily limited to these six components that are described here. Good practice, 
understanding and implementing best practices within the laboratory and follow-up systems. 
Standards, using good standard practices and policies for newborn screening, for laboratory 
testing and follow-up. Active monitoring, tracking key performance indicators that identify gaps 
and quality-improvement opportunities. 
Site visits, having these external assessments to review your processes, is really 
beneficial. Reports. Actively tracking various performance activities to make sure that you are 
making progress with key activities and of course, training. Improving capability within your staff 
to make sure that they're keeping up to date with technical changes. Next slide. So if we 
remember back to the slide that showed the preanalytical, the analytical, the-post analytical 
processes, we can also think of quality assurance using the same framework. So in the 
preanalytical space, quality assurance is needed to manage and assess various critical steps in 
this process. Checking the specimen integrity, timing of the sample collection and receipt, and 
sample handling as it gets transported to the laboratory, verifying kits and reagent lots, make 
sure they're not expired, checking instrument performance to make sure it performs according 
to specs, ensuring that you have preventative maintenance schedules that you adhere to. Those 
are important as part of the preanalytical quality assurance steps. 
Next slide. And the analytical space, quality assurance efforts include monitoring 
calibrators and standards and controls, verifying biomarker measurement charts to make sure 
that your measurements are — that you're tracking any sorts of trends that may — you may be 
seeing. Refining cutoffs, maintaining staff competency and proficiency testing performance are 
a few of your testing processing system. 
Next slide. And then finally in the post-analytical space, quality assurance can include 
timely reporting of results, assessing population-based performance metrics and making sure 
that you keep on top of that, seeing how you compare with other programs, following up on 
unsatisfactory samples and providing feedback that can lead to various kinds of quality 
improvement initiatives. Quality improvement is something that you look at throughout the 
entire process. 
And the next slide, the last slide, I believe. To end, I really, also, just wanted to talk about 
the role of technical assistance along the newborn screening system itself. And really just to 
indicate that programs need to be ready to provide technical assistance across the entire 
system. It's not just the laboratory function where we only focus on what the laboratories are 
doing. As the complexity of testing and the number of diseases screened for increases, there's 
going to be an increasing need for technical assistance across the spectrum and this includes 
providing assistance to birthing centers and midwives and giving them information as needed, 
public health staff, of course, as they carry out their important work. Primary care providers and 
other specialists, examples of these are like fact sheets that are supplied to be able to help 
them understand how to manage the newborns and so on. 
So information needs to be relayed so that there's consistency and so there's a really 
good understanding of how to manage the newborns identified throughout the system. So 
that's largely it for the presentation of the last slide. I thank you again so, so very much for your 
attention and I just want to note this event is just the first of many newborn screening webinars 
that we hope to create, and it really is meant to sort of lay the foundation for numerous other 
training opportunities for newborn screening that will be forthcoming using this OneLab 
mechanism for training. So with that being said, thank you, everyone. I’m happy to hear any 
questions. 
Thank you. We'll take a few minutes to answer as many questions as possible. If we do 
not answer your question today, we'll do our best to respond via email. If you ever questions 
after today, please email the OneLab inbox at OneLab@CDC.gov. Let's see what we have. So the 
first question is, is diabetes disease a part of the newborn screening? 
Diabetes disease is not part of the newborn screening process. It is not. The next one is, 
are the laboratory developed tests acceptable for newborn screening? 
Are laboratory-developed tests acceptable? Yes. You will actually find that in practice 
that many of the tests that the states use are laboratory-developed tests just because there may 
be a quick turn-around time and a mandate by that state to bring all of the tests very quickly. To 
be able to get various kits from certain vendors, that can take quite some time and some states 
may not have that length of time. And so there is just an amount of work within the state 
programs to be able to develop testing on, especially on tandem mass-spectrometry platforms, 
to be able to identify the relevant bio markers of interest. 
So yes. Ok. They had a follow-up question but I’ll send that to you after because it may 
take quite a bit of time to explain that one. Sure. I’ll throw other questions. How can programs 
request the quality assurance and technical assistance from your team? From our team in 
particular at CDC, one of the best ways to actually do that is by email. I believe we can let you 
have this. It's the nsqapdmt@CDC.gov. That's a mailbox that will get any sort of questions 
directed to us so that we can respond as needed.
So, this is a good one. How do you see newborn screening testing in the near future as 
it's seeing a transition in technologies? Yes. We do gather together as a community with a bit of 
a crystal ball. Trying to anticipate where things are going to go. I’m being truthful to a large 
extent there. Where we see newborn screening moving in terms of testing, we do believe that 
tandem mass spectrometry will continue to play a very robust role. Tandem mass spectrometry 
looks at biochemical markers. 
Biochemical markers for metabolic diseases are really good way of being able to detect 
newborns that are under stress and that have what's called decompensated and that are 
showing key biomarkers, and it's very quick. And it does take the knowledge of the system, the 
biological system and the biomarkers of interest. So that, I believe, will continue to happen and I 
think that as we move forward, perhaps, metabolomics, as the mass specs become better, I 
anticipate being able to identify more and more biomarkers under a single biochemical platform 
is going to be very important. Another thing, another platform and we spoke about these, too, 
the platform is with respect to newborn sequencing. And so the bringing in, look at bringing in 
DNA-based testing for spinal muscular atrophy and severe combined immunodeficiency really 
did transform newborn screening programs to set up their laboratory work flows to 
accommodate DNA-based testing. 
The big future with a lot of question marks is with sequencing and whether or not we 
will go the route of genome or exome sequencing to look at a larger number of biomarkers. 
There's a lot of discussion about that because most programs are just not equipped right now to 
be able to go that route. There are a lot of questions involved in how you would interpret that 
information and it does require a lot of infrastructure for data analytics. So there's a lot of 
excitement if you're a scientist just looking at it from that point of view. But strategically, you 
know, there are a lot of other bits of infrastructure that need to be in place to be able to mark 
out what that future is going to look like. 
Very long answer, but clearly this is something that rests very heavily on our hearts as 
we look at the future of newborn screening. Great questions. I know they did mention about 
next-gen sequencing so —yes. Yes. We're also thinking about it. I think the initial step is that we 
need to bring in next-gen sequencing as perhaps a second tier test. Get used to what's needed 
and the work flow that is needed because the states are not even there, right? Right. So as that 
moves in, moves on, I think then we can then ask the questions of, you know, what happens if 
we look at many more genes at one time and what does it mean? 
We need lots more genetic counselors before we can even make a move in that direction 
or we'll just overwhelm the system. Fantastic questions. It is our future so —I’ll go back to the 
question, do you know the percentage of requested repeat testing are actually follow through 
with collection? You know, that really would be a bit state-dependent. I couldn't give you those 
results right now. I couldn't give you those results. I think if you're interested in something like 
that, perhaps you can speak directly to one of your states to reach out to get that kind of 
information. 
This is a good one. Are newborn screening collections arriving at the testing center after 
24 hours acceptable? So each state will have their own respective policies on how they will 
handle samples that may not specifically meet their criteria. Ok? So again, I know we had that 
hard line, it must be there after, by 24 hours. There's some situations in which couriers may take 
longer. The states will defer to their policies. I think that one of the things that we may also 
think about is that, if part of their policy is to have a request for a new sample, some of them 
may test to see what is there and just handle that very specifically, but you certainly would have 
to consult their policy. 
One thing we don't want to do is miss a child that may be going into crisis. So each 
program will have a special way of handling that. Ok. That's all the time we have for questions. 
We will send you the other questions that are in our Q&A box for you to answer them offline. 
And I want to say thanks again, Dr. Cuthbert. We look forward to actually bringing you on again 
in the near future to present at another OneLab event. Sounds great. Thank you. We are 
offering one P.A.C.E. credit for today's webinar. P.A.C.E. certificates are immediately available on 
OneLab REACH in your My Learner Hub for easy access. To receive your P.A.C.E. credit for 
participating in today's session, you have to log into your OneLab REACH account. Visit the link 
in the chat and use the pass code to complete the evaluation within two weeks. 
You must be logged on again — again, you must be logged on to your account to access 
the evaluation as well. You will also receive an email containing the instructions if you missed 
the link and the pass code in the chat. Next slide, please. I’m thrilled to announce several 
exciting upcoming OneLab events. Don't miss the final opportunity to attend a OneLab 
exclusive, Elevate Your Expertise event. This is a one-hour virtual learning session. 
Revolutionize your laboratory SME-delivered presentations. During the session, you will 
discover proven strategies to captivate your audience and leave a lasting impression, all while 
enhancing engagement and retention. 
That's not all. You'll also receive a certificate of completion to share on your LinkedIn 
profile showcasing your newfound skills and highlighting your accomplishments to your 
professional connections. The final session will be held on August 1st. You can register now 
using the link in the chat. 
Next slide, please. OneLab Network event, ISO 35001:2019 Bio risk Management for 
Laboratories will be held on Monday, August 5th from 1:00 to 2:00 PM Eastern Standard Time. 
The registration link has been posted in the chat. 
Next slide. Attention, testing professionals, join the upcoming OneLab TEST open forum 
event on August 13 at 12:00 PM Eastern Standard Time to discuss training and education needs 
for testers who work in non-laboratory sites. Registration now is available in the chat. And 
please share this news with — about this event with your colleagues, especially those who 
perform point-of-care testing outside of a traditional laboratory. 
Next slide. As a reminder, the slides and audio recording of this event will be posted to 
our website within two weeks from today. And lastly, I encourage you to utilize our OneLab 
inbox to share your training needs and feedback on OneLab with us. We use your input to select 
event topics and better understand the community needs. The OneLab email address has been 
posted in the chat for easy access and again, thank you for participating and have a great rest of 
your day.