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Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?
[krabbe disease]
Advances
in
technology
have
made
newborn
screening
for
more
than
50
inborn
errors
of
metabolism
possible
using
a
dried
blood
sample
.
A
framework
is
proposed
that
public
health
practitioners
may
use
when
considering
candidate
disorders
for
newborn
screening
panels
.
The
framework
expands
on
the
10
Wilson
-
Jungner
criteria
with
the
addition
of
11
criteria
specific
to
newborn
screening
.
A
calculation
,
the
"
pNBS
Decision
Score
,
"
is
used
to
quantify
results
and
rank
candidate
disorders
.
The
pNBS
Decision
Scores
that
were
calculated
for
phenylketonuria
(
OMIM
#
261600
)
,
cystic
fibrosis
(
OMIM
#
2
1970
0
)
,
Pompe
disease
(
OMIM
#
232300
)
,
and
severe
combined
immunodeficiency
(
OMIM
#
102700
)
support
their
inclusion
as
newborn
screening
disorders
.
The
pNBS
Decision
Score
suggests
that
Krabbe
disease
(
OMIM
#
245200
)
is
not
a
candidate
disorder
for
inclusion
at
this
time
.
The
proposed
framework
adds
to
the
ability
of
policy
makers
to
quantify
an
essential
portion
of
the
process
for
adding
disorders
to
newborn
screening
panels
.
Other
factors
such
as
ethical
,
legal
,
and
social
issues
,
clinical
utility
,
and
advocacy
are
also
part
of
the
policy
process
.
The
framework
is
not
intended
to
replace
existing
nomination
processes
but
rather
to
enhance
those
processes
by
encouraging
iterative
review
of
newborn
screening-
specific
criteria
.
The
use
of
the
framework
will
provide
consistency
across
a
portion
of
the
decision
process
.
The
public
health
community
should
take
the
opportunity
to
revisit
the
screening
determinants
of
the
Wilson
-
Jungner
criteria
from
a
21
st
century
perspective
.
The
results
suggest
that
this
framework
provides
the
public
health
practitioner
with
a
consistent
process
for
making
an
evidence-based
decision
.
Diseases
Validation
Diseases presenting
"blood sample"
symptom
adrenomyeloneuropathy
congenital toxoplasmosis
esophageal adenocarcinoma
krabbe disease
legionellosis
scrub typhus
typhoid
von hippel-lindau disease
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