FEATURE
The Promise and Challenge
of Newborn Screening in 2019
by Nancy Maddox, MPH, writer
When Stella Turnbull was born in 2007, she showed all the signs of a
healthy baby. At one month of age, however, everything changed. “I went
to give her a bath,” said her mother, Sarah Turnbull, “and her head, her
arm, her legs were all very floppy.” On the advice of Stella’s pediatrician,
Sarah and her husband rushed the baby “that very night” to the
emergency department at Mayo Clinic in Rochester, Minnesota—
a five-hour drive from their home in Iowa.
Over the next week, the parents learned
that their daughter has spinal muscular
atrophy (SMA), a rare genetic disorder that
has left Stella, now age 12, dependent on a
trach tube for breathing, a gastrointestinal
tube for feeding and 24-hour care. When
the family finally left Mayo Clinic after
Stella’s diagnosis, the parents were told,
“Just take her home and love her, because
there’s nothing we can do.” Just last year, SMA was added to the
federal government’s list of disorders
recommended for inclusion in state NBS
programs—the Recommended Uniform
Screening Panel (RUSP) maintained
by the US Department of Health and
Human Services. Six states currently
conduct routine NBS for SMA. And Stella’s
own state, Iowa, will begin a pilot SMA
screening program sometime this year.
Fast forward to 2019, and the outlook for
infants with SMA is dramatically different.
The US Food and Drug Administration
(FDA) approved the first drug to treat
the disorder, Spinraza ® , in 2016. And
FDA is expected to approve a potentially
curative gene therapy this year. But both
interventions work best when delivered
soon after birth, while infants are
pre-symptomatic and their motor neurons
fully functional; although Spinraza ®
has given Stella some movement in
her legs and neck, and potentially
stopped her disease progression, neither
Spinraza ® nor gene therapy can replace
the motor neurons that have died. “Her
independence,” said Sarah, “is limited
to finger movements to operate her
power chair.” NBS is a public health success story,
ongoing for 56 years. Today, the field is
full of both promise and challenge. On the
one hand, new treatment and laboratory
testing options open up the possibility of
expanded screening panels. Already, the
RUSP has grown from an initial 29 core
conditions in 2006 to 35 today, and fragile
X syndrome and Duchenne muscular
dystrophy are expected to be next up for
consideration.
Heartbreaking stories like Stella’s
epitomize the strongest case for newborn
screening (NBS): to detect congenital
disorders at birth, so effective treatments
can be implemented before dire health
consequences set in.
4
LAB MATTERS Spring 2019
On the other hand, however, testing
laboratories and follow-up providers are
generally under-resourced and straining
to keep pace with growing workloads.
In the laboratory, there is pressure to
simultaneously enhance quality, reduce
test turn-around-time and rigorously
evaluate new high-throughput screening
methods. In providers’ offices, there is
the need to care for increasing numbers
of patients with conditions whose
progression and management may be
poorly understood.
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