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Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.
[canavan disease]
Genetic
testing
for
Tay-
Sachs
and
Canavan
disease
is
particularly
important
for
Ashkenazi
Jews
,
because
both
conditions
are
more
frequent
in
that
population
.
This
comparative
case
study
was
possible
because
of
different
patenting
and
licensing
practices
.
The
role
of
DNA
testing
differs
between
Tay-
Sachs
and
Canavan
diseases
.
The
first
-line
screening
test
for
Tay-
Sachs
remains
an
enzyme
activity
test
rather
than
genotyping
.
Genotyping
is
used
for
preimplantation
diagnosis
and
confirmatory
testing
.
In
contrast
,
DNA-based
testing
is
the
basis
for
Canavan
screening
and
diagnosis
.
The
HEXA
gene
for
Tay-
Sachs
was
cloned
at
the
National
Institutes
of
Health
,
and
the
gene
was
patented
but
has
not
been
licensed
.
The
ASPA
gene
for
Canavan
disease
was
cloned
and
patented
by
Miami
Children
's
Hospital
.
Miami
Children
's
Hospital
did
not
inform
family
members
and
patient
groups
that
had
contributed
to
the
gene
discovery
that
it
was
applying
for
a
patent
,
and
pursued
restrictive
licensing
practices
when
a
patent
issued
in
1997
.
This
led
to
intense
controversy
,
litigation
,
and
a
sealed
,
nonpublic
2003
settlement
that
apparently
allowed
for
nonexclusive
licensing
.
A
survey
of
laboratories
revealed
a
possible
price
premium
for
ASPA
testing
,
with
per
-unit
costs
higher
than
for
other
genetic
tests
in
the
Secretary
's
Advisory
Committee
on
Genetics
,
Health
,
and
Society
case
studies
.
The
main
conclusion
from
comparing
genetic
testing
for
Tay-
Sachs
and
Canavan
diseases
,
however
,
is
that
patenting
and
licensing
conducted
without
communication
with
patients
and
advocates
cause
mistrust
and
can
lead
to
controversy
and
litigation
,
a
negative
model
to
contrast
with
the
positive
model
of
patenting
and
licensing
for
genetic
testing
of
cystic
fibrosis
.
Diseases
Validation
Diseases presenting
"restrictive licensing practices"
symptom
canavan disease
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