Lower-cost genome sequencing has reached a point of strong commercial viability. The remaining 2 legs of the “3-legged stool” of genomics-enabling technologies —genomic analysis tools database storage—are rapidly evolving to support the use of genomic information in medical care.

1. Bringing
Together
Core
Technologies
Unlocks
Genomic
Data
to
Improve
Healthcare
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. Clinical
Use
of
Genome
Sequencing
Rapidly
Expanding
The
adop9on
of
genome
sequencing
technology
is
rapidly
expanding
as
medical
centers
around
the
world
embrace
its
u9lity
in
informing
healthcare
decisions—
an
emerging
reality
of
personalized
medicine.

3. Expansion
Driven
by
Technology
• There
are
three
important
areas
of
technology
that
are
driving
the
use
of
genomic
data
in
healthcare:
genome
sequencing,
genomic
analysis
tools,
and
database
storage.
• The
first
of
these
–
genome
sequencing
–
has
advanced
to
the
point
that
it
is
more
widely
accessible,
with
the
cost
of
sequencing
at
nearly
$1,000
or
less.
• This
lower
cost
of
genome
sequencing
has
reached
a
cri9cal
milestone
to
enable
the
use
of
sequencing
as
a
mass-­‐market
product
for
medical
care.

4. Expansion
Driven
by
Technology
• The
second
and
third
core
genomic
technologies
–
genomic
analysis
tools
and
database
storage
–
are
in
the
midst
of
evolu9on.
• Their
progress
and
integra9on
are
cri9cal
for
the
next
stage
of
adop9on
of
genomic
data
into
health
care.

5. AnalyEcs
Central
to
Progress
• Genomic
Analysis
Tools:
– Since
the
human
genome
was
first
sequenced
more
than
a
decade
ago,
an
increasingly
robust
body
of
research
has
showcased
the
links
between
muta9ons
iden9fied
in
the
genome
and
disease
risk.
– Informa9cs
tools
have
been
developed
by
medical
centers
and
genomics
companies
to
apply
to
whole-­‐genome
samples.
– Increasingly,
these
genome
analysis
tools
will
need
to
adapt
to
the
steady
pace
of
new
genomic
linkages
to
disease
and
to
operate
at
a
level
approaching
“big
data.”

6. Database
Storage
EssenEal
to
Inform
Decision
Making
• Database
Storage
for
Human
Genomes:
– There
are
a
growing
number
of
robust
databases
of
human
genomes,
including
data
for
healthy
people
or
those
with
certain
diseases.
– When
properly
analyzed,
these
databases
offer
the
poten9al
to
provide
the
medical
community
with
a
reference
library
against
which
to
compare
gene9c
data.
– Large-­‐scale,
high-­‐quality
databases
are
an
essen9al
element
to
cross-­‐reference
a
pa9ent
genome
to
guide
more
informed
medical
decisions.

7. Combined
Leading
Technologies
Will
Accelerate
Progress
• Recently,
two
leading
genomics
companies,
WuXi
and
NextCODE
Health,
have
combined
their
technology
capabili9es
in
these
two
areas.
– WuXi
has
industry-­‐leading
capabili9es
to
analyze,
store
and
manage
the
vast
amounts
of
genomic
data.
– NextCODE
Health
brings
a
leading-­‐edge
system
for
sequence-­‐based
clinical
diagnos9c
applica9ons
and
genome
analysis.
• The
combina9on
of
WuXi’s
founda9onal
genomic
database
storage
and
management
and
NextCODE’s
sophis9cated
genome
analysis
tools
will
integrated
the
key
components
that
are
most
rapidly
evolving
to
apply
genomics
to
medical
care.

8. OpportuniEes
Lie
on
the
Horizon
• Ini9a9ves
like
this
in
the
advance
the
state-­‐of-­‐the-­‐art
in
genomic
analysis
and
database
storage
brings
us
to
the
heart
of
helping
the
world
to
fully
harness
personalized
medicine,
and
to
providing
tools
directly
to
doctors
to
provide
beer
diagnos9cs
and
treatments
to
pa9ents.
• The
progress
to
date
has
been
amazing.
Yet
the
opportuni9es
ahead
are
even
more
extraordinary
to
improve
the
speed,
accuracy,
and
accessibility
of
genomic
informa9on
to
improve
human
health.