FEATURE
Upping the Ante for Babies:
APHL Pushes to Renew, Improve the NBS Saves Lives Act
The US Centers for Disease Control and Prevention
play a crucial role supporting state NBS programs
via work to improve current screening tests,
translational research to adapt new technologies
for use in NBS, scientific training and technical
assistance programs and its NBS Quality
Assurance Program (NSQAP), which produces
about a million (non-regulatory) blinded dried
blood spot quality assurance samples to give
screening laboratories an external check on their
testing. A significant portion of this work—and
especially the NSQAP—is funded through the
NBS Saves Lives Act, enacted in 2009 and up for
renewal this year. APHL and partners are asking
Congress to reauthorize the act for a third five-year
term (FY20-FY24) at an increased funding level of
$29,650,000.
Madison (left) and Mackenzie Braddock.
Photo: Victoria Braddock
“There’s only so much blood on a card,”
said Caggana, “so we have to depend on
using the same specimen.”
At the same time, a push to decrease
false-positives will likely mean more
second and third tier screens. And,
because of limited capacity and funding,
more state NBS laboratories may opt to
outsource this work.
In place of disease-specific screening,
Caggana foresees “analyzing a collection
of data more broadly across each baby,”
based on results from next generation
sequencing or metabolomic methods, like
mass spectrometry, which capture data
on metabolites associated with many
different cellular processes.
Finally, data management—APHL’s top
federal priority for this fiscal year—will
loom large. Within the laboratory, there
will be a need to analyze the massive
datasets produced by newer technologies.
And outside the laboratory, there will
be a need to better manage and share
follow-up data, especially across states.
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As Champaigne explains, “We won’t
know what we don’t know until we start
[screening for new disorders]. We have
to be mindful that we’re going to have
some results that are indeterminate and
will require long-term follow-up, and we
should make some attempt to collect
this information in an organized and
meaningful way so we can learn how to
improve test precision, as well as disease
management further down the line.”
Overall, said Caggana, “NBS is definitely at
an interesting time, with a lot of change
over the last few years” and a lot of
change in progress.
In the midst of this flux, children like
Madison Braddock, age 7, are a reminder
of why NBS matters so much. Madison,
one of Champaigne’s South Carolina
patients, was diagnosed at two weeks of
age with glutaric aciduria, Type 1—added
APHL.org
Peter Kyriacopoulos, APHL’s public policy director,
explained that “more funding is needed so we can
maintain the highest possible level of quality in
laboratory testing and deliver the most accurate
screening results.”
Other requested updates to the act include:
• Expanding the authority of the US Health
Resources Services & Administration to support
public, educational programing around NBS.
• Commissioning a National Academy of
Medicine report on the modernization of NBS,
including a review of barriers that keep states
from adding new conditions to their NBS panels
and a review of infrastructure needs to improve
timeliness of diagnosis for infants who screen
positive for a NBS disorder. n
to the state’s NBS panel in late 2004. Her
mother, Victoria, said, “She didn’t have
any abnormal signs at all.”
Without the early alert provided by NBS,
Victoria said, “Definitely over the next
couple of months of infancy she could
have had a metabolic stroke that could
lead to cerebral palsy, low muscle tone
and ultimately death, without the proper
medical formula.” Instead, she is a happy
child whose main disease complication is
“a feeding tube in her tummy” to deliver
her formula.
And therein lie the rewards of the
work: “We save two babies [from death
or disability] every three days here in
Missouri,” said Hopkins. “How cool is
that?” n
Spring 2019 LAB MATTERS
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