newborn screening
Looking at the Newborn Screening
“Big Picture” in the Big Easy
by Oluwafunke Akinsola, associate specialist, Newborn Screening and Genetics; Erin Darby, MPH, CHES, specialist, Newborn Screening and
Genetics; Sari Edelman, MPH, specialist, Newborn Screening and Genetics; and Laura Russell, MPH, specialist, Newborn Screening and Genetics
In September, APHL’s Newborn Screening
and Genetic Testing Symposium convened
in New Orleans, bringing together
over 500 laboratorians, follow up staff,
clinicians, nurses, genetic counselors,
parents and industry partners. Sessions
examined emerging newborn screening
(NBS) technologies, candidate conditions,
achievements in timeliness and improvements
in patient outcomes and other developments
in the field. Selected highlights follow.
Analyzing Screening Performance
A session on managing cutoff values to
reduce false negative and false positive
results brought together experts in the
field to review methods for optimizing
screening performance. Dr. Mary
Seeterlin of the Michigan Department
of Health and Human Services detailed
her novel approach to reducing false
negative screening results for Carnitine
Palmitoyltransferase Type II Deficiency by
comparing tandem mass spectrometry
analyte ratios. Dietrich Matern, MD, PhD,
of the Mayo Clinic discussed the Mayo
Clinical Laboratory Integrated Reports
(CLIR), a post analytical tool designed to
compare data across NBS labs. To date, the
tool has demonstrated utility in Kentucky,
New York and North Carolina for some
NBS tests, and other tests are under
evaluation. Dr. Travis Henry from the State
Hygienic Laboratory at the University
of Iowa concluded the session with a
report on another promising approach,
the use of median normalization of NBS
data to improve test performance.
Gene Sequencing Forum
The first gene sequencing forum,
hosted by the APHL NBS Molecular
Subcommittee, offered participants
the opportunity to share progress
reports, learn about resources, and
discuss molecular and gene sequencing
technologies. Benefits and barriers
to sequencing by contract, a detailed
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LAB MATTERS Fall 2017
Continued Improvements In NBS
Timeliness
The new NewSTEPs website utilizes community-
oriented tools to facilitate communication
and employs a clear and easily navigable
design. It includes a resource library, which
allows users to easily search for materials
and filter by type, topic and/ or disorder.
account of Massachusetts’s process to
simultaneously implement sequencing
for four NBS conditions, and the
use of next generation sequencing
technology to inform a genotyping
panel were among the topics discussed.
Participants also identified the need for
a framework for laboratory information
management system (LIMS) capacity,
educational materials for parents/
families, family testing guidelines
and guidance on data reporting.
Spinal Muscular Atrophy—Quality
Test Methods and Treatment
A session on Spinal Muscular Atrophy
(SMA) discussed significant international
progress in screening and treating
SMA, with a focus on assay methods,
as well as clinical considerations and
challenges. SMA is currently under
evidence review by a workgroup of the US
Secretary of Health and Human Services’
Advisory Committee on Heritable
Disorders in Newborns and Children
for consideration to be added to the
Recommended Uniform Screening Panel
(RUSP), a list of conditions recommended
for routine newborn screening.
The NBS field continues to make
progress in the timeliness of specimen
collection, delivery and reporting.
In a related session, Ashley Comer
explained how the Iowa NBS program, a
NewSTEPs 360 timeliness sub-awardee,
utilizes NewSTEPs infographics to
monitor performance and identify
areas for improvement. Attendees
concurred that building sustainable
partnerships among newborn
screening systems and stakeholders
is critical to advancing timeliness.
Just Bark for Follow up
At a mixer organized by the NewSTEPs Short
Term Follow-up Workgroup, attendees voted
on the most notable story about short term
follow up. The winner: Oklahoma, whose
program once received an incorrect fax
number and inadvertently sent results to
a veterinarian instead of the primary care
provider! (Don’t worry, the mistake was
quickly corrected, and the vet assured them
that he did not treat human patients).
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