newborn screening
APHL Meeting Reviews Status of Screening
for New Disorders
by Kshea Hale, MPH, specialist, Newborn Screening & Genetics
On June 22-23, 2017, the Newborn
Screening Technical Assistance and
Evaluation Program (NewSTEPs)
hosted the first National Newborn
Screening Meeting on New Disorders in
Bethesda, MD. The meeting, an activity
of the Health Resources and Services
Administration (HRSA)-funded New
Disorders Implementation Project,
provided a forum for newborn screening
specialists, partners and stakeholders
from 37 states and Puerto Rico to discuss
the status of screening for diseases
recently added to the Recommended
Uniform Screening Panel (RUSP).
The Advisory Committee on Heritable
Disorders in Newborns and Children
updated the RUSP to include Pompe in
March 2015, and Mucopolysaccharidosis
type I (MPS I) and X-Linked
Adrenoleukodystrophy (X-ALD) in
February 2016. Categorized as lysosomal
24
LAB MATTERS Summer 2017
storage disorders (LSDs), Pompe and
MPS I are inherited conditions in which
defective genes cause a reduction or
loss in lysosomal enzyme activity. This
loss of enzyme activity causes certain
molecules to build up in the lysosomes
decreasing cellular function. In contrast,
X-ALD is an inherited peroxisomal
disorder that affects the myelin sheath
and outer layer of the adrenal glands
causing a deterioration in neurological
function and hormonal insufficiency.
Each of these disorders presents a unique
challenge for clinical providers and
the newborn screening community in
that the severity and age of onset differ
in each individual, making it difficult
to diagnose these conditions. In the
newborn screening community, these
disorders often present a diagnostic
dilemma due to pseudodeficiencies, false
positives and indeterminate results.
NewSTEPs is a program of the Association of
Public Health Laboratories (APHL) operated
in collaboration with the Colorado School of
Public Health. APHL assists state programs
to implement newborn screening for Pompe,
MPS I and X-ALD through NewSTEPs and
the New Disorders Implementation Project.
APHL was awarded a two-year cooperative
agreement with HRSA to support new
disorder implementation. Under the
project, APHL is providing technical and
financial assistance to 11 state newborn
screening programs to help them achieve
full implementation for at least one of the
new disorders by September 2018. APHL
also supports three state programs that
serve as Peer Network Resource Centers
(PNRCs). Each state program and PNRC
applied to participate in this project through
the request for proposal (RFP) process.
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