FEATURE
got bills introduced that would essentially
require the state to screen for all LSDs on
the RUSP by 2020—an impossible feat. (By
way of comparison, Wadsworth screened
tens of thousands of infants for Pompe, a
LSD, during its pilot program, before the
disorder was added to routine NBS.)
Piper, who participated in an analysis
of the bill, said the health department
concluded that there was “no way we
could add these conditions to our panel
by next January.” She said, “We don’t have
the physical capacity and infrastructure to
screen for LSDs on a population level. We
would require additional equipment, more
electrical resources, more data resources.
It would take a capital outlay that is not
insignificant.”
Declining to appropriate the funding,
the legislature backed down. As of early
spring, it seems likely the final bill will
instead ask IDPH to review every new
condition added to the RUSP—which it
already does—and then submit a report to
the governor’s office.
“We dodged a bullet,” said Piper.
Most states—all except, FL, KS, NY, PA and
DC—fund their NBS programs at least in
part through fees, ranging from $30/infant
in Louisiana to $162.98/infant in Rhode
Island. But increasing these fees is rarely
easy. After Missouri added screening for
Pompe disease and other select LSDs in
2013 (an effort costing a few hundred
thousand dollars), it took two years to
raise the statutory cap on NBS fees so the
state could charge an extra $20/baby—an
adjustment requiring the approval of both
the state legislature and governor.
Given budgetary constraints, NBS
laboratories continually work to increase
efficiency. New York’s Wadsworth Center
has implemented “lean” methods
to streamline its processes. Recent
improvements include using state
health department systems to enhance
electronic communications with hospital
newborn coordinators, and tweaking
laboratory systems to assure more timely
data entry.
“We save two babies every
three days”
What does the future hold for NBS?
The experts cited in this article predict
continued expansion of the NBS panel
due to advances in gene therapies that
will target more candidate disorders
and a greater willingness to screen for
conditions whose symptoms can only be
attenuated through early intervention.
The growing NBS panel, in turn, will
require growing the nation’s pipeline of
NBS laboratory scientists—for example,
through efforts like the APHL NBS
fellowship program—and follow-up
providers. Currently, Champaigne said,
there is one biochemical geneticist for
every 2.2 million US residents, and new
professionals are added at the rate of only
15 every two years—not enough to replace
those retiring from this demanding
specialty.
On a technical level, multiplexing,
whereby several different disorders can be
tested simultaneously from the same NBS
dried blood spot, is likely to expand, via
platforms like mass spectrometry.
Preparing DBS samples for testing.
Photo: Iowa Department of Health
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LAB MATTERS Spring 2019
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