23andMe is relaunching its direct-to-consumer genetic tests in the U.S. with the approval of the FDA to provide consumers “carrier status” information on 35 genes that can cause rare diseases. That the FDA has come so far so fast is indicative of the potential it likely sees in DTC genetic testing improving the health of U.S citizens. I am optimistic that DTC genetic testing will expand its impact over time, ultimately having a tremendous impact on human health globally.

1. FDA
Approval
Advances
Direct-­‐to-­‐Consumer
Gene7c
Tes7ng
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. A
Big,
Posi7ve
Step
Forward
• Genomics
industry
maverick,
23andMe,
has
relaunched
its
direct-­‐to-­‐consumer
(DTC)
geneDc
tesDng
in
the
United
States
• Landmark
approval
from
the
FDA
allows
23andMe:
– To
report
carrier
status
informaDon;
and
– To
include
informaDon
on
wellness,
traits,
and
ancestry
• The
newly
launched
23andMe
test
now
meets
FDA
standards
and
can
inform
consumers
whether
they
carry
a
geneDc
variant
for
one
of
36
rare
diseases
that
could
potenDally
be
passed
on
to
their
children

3. Direct-­‐to-­‐Consumer
Gene7c
Tes7ng
Implica7ons
• For
the
genomics
industry
as
a
whole,
this
is
a
significant
step
forward.
For
the
first
Dme
ever,
the
FDA
is
allowing
a
company
to
provide
a
broad
spectrum
of
medically
relevant
geneDc
informaDon
directly
to
consumers.
• Both
the
FDA
and
23andMe
deserve
credit
for
working
through
challenges
that,
less
than
two
years
ago,
resulted
in
the
FDA
ordering
23andMe
to
stop
markeDng
its
geneDc
tesDng
kits
in
the
U.S.
• That
the
FDA—one
of
the
world’s
most
thoughUul
medical
regulatory
agencies—has
come
so
far
so
fast
is
indicaDve
of
the
potenDal
DTC
geneDc
tesDng
holds
for
improving
the
health
of
U.S
ciDzens.
• And
because
the
FDA’s
decisions
have
global
influence,
that
potenDal
will
spread
worldwide.

4. The
Journey
Ahead
for
DTC
Gene7c
Tes7ng
• Moving
forward,
there
are
at
least
two
important
direcDons
that
DTC
geneDc
tesDng
will
advance:
– DTC
geneDc
tesDng
will
expand
its
reach
globally;
and
– DTC
geneDc
tesDng
will
expand
the
medical
impact
of
its
reported
results.

5. DTC
gene7c
tes7ng
will
expand
its
reach
globally
• Over
the
decades
to
come,
DTC
geneDc
tesDng
services
will:
– Expand
in
response
to
consumer
demand
for
improved
health;
– Require
customizaDon
by
geography
and
culture;
and
– Need
approval
from
appropriate
governmental
agencies.
• While
the
genome
is
shared
by
all
humans,
DTC
geneDc
tesDng
services
will
not
be
the
same
across
all
people
living
anywhere.
• Industry
parDcipants
must
align
their
DTC
reports
and
services
to
best
meet
the
needs
of
customers
in
specific
countries
and
cultures—and
do
so
in
a
spirit
of
cooperaDon
with
local
health
regulators.

6. DTC
gene7c
tes7ng
will
expand
the
medical
impact
of
its
reports
• The
FDA’s
approval
for
23andMe’s
carrier
status
report
is
a
significant
step
forward,
but
more
health
data
remains
to
be
gleaned—and
reported—
from
an
individual’s
genomic
data
• Realizing
the
future
potenDal
for
the
right
service
to
report
directly
to
an
individual
consumer
about
risk
for
developing
specific
diseases
will
necessitate:
– CooperaDon
with
regulators
such
as
the
FDA;
and
– CollaboraDon
with
physicians,
researchers,
geneDc
counselors,
etc.
• Informed,
health-­‐conscious
consumers
are
very
likely
to
demand
access
to
this
informaDon—and
millions
of
individuals
have
already
paid
significant
sums
out-­‐of-­‐pocket
to
have
their
genomes
sequenced
and
analyzed

7. An
Exci7ng
Future
for
DTC
Gene7c
Tes7ng
• I
am
very
opDmisDc
that
DTC
geneDc
tesDng
will
expand
its
impact
over
Dme
– overcoming
skepDcism
and
– having
a
tremendous
impact
on
human
health
globally
• WuXi
Ventures
recently
invested
in
23andMe,
making
us
acDve
supporters
of
its
current
and
noteworthy
success
– I
am
proud
that
our
team
at
WuXi
NextCODE
will
be
a
part
of
making
this
exciDng
future
happen