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Newborn screening for lysosomal storage diseases: an ethical and policy analysis.
[krabbe disease]
The
traditional
focus
of
newborn
screening
(
NBS
)
is
testing
infants
for
medical
conditions
like
phenylketonuria
(
PKU
)
that
may
cause
significant
morbidity
or
mortality
unless
treatment
is
initiated
early
.
Although
the
Wilson
and
Jungner
criteria
were
not
designed
specifically
for
NBS
,
the
public
health
screening
criteria
have
been
used
,
with
some
modifications
,
to
justify
what
conditions
are
included
in
a
universal
NBS
panel
.
These
criteria
are
being
challenged
by
platform
technologies
like
tandem
mass
spectrometry
(
MS
/
MS
)
that
allow
for
the
identification
of
numerous
conditions
on
a
single
sample
because
they
identify
many
conditions
and
variants
simultaneously
,
some
of
which
meet
and
others
which
fail
to
meet
the
criteria
.
In
this
manuscript
,
I
evaluate
three
lysosomal
storage
diseases
included
in
this
multiplex
screening
test-
Pompe
disease
,
Fabry
disease
,
and
Krabbe
disease
.
I
show
that
they
fail
to
meet
some
of
the
critical
Wilson
and
Jungner
criteria
and
thus
are
not
ready
for
inclusion
in
universal
NBS
panels
.
Rather
,
screening
for
these
conditions
should
only
be
performed
in
the
research
context
with
institutional
review
board
approval
and
parental
permission
.