The annual American Society of Human Genetics Meeting (ASHG 2016) is an excellent time for the field of genomics to take stock of the past and clarify our perspectives for the future.

1. Making
Progress
in
Genomics:
Reflections
and
Prospects
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. Reflections
on
the
Past,
Prospects
for
the
Future
• The
annual
American
Society
of
Human
Genomics
Meeting
(ASHG
2016)
provides
an
excellent
opportunity
to:
– Take
stock
of
our
accomplishments
over
the
last
few
years;
and
– Consider
what
we
can
achieve
in
the
years
ahead.
• Our
accomplishments
have
been
numerous
and
our
goals
are
ambitious,
yet
achievable.
At
WuXi
NextCODE,
we
perceive
exciting
opportunities
for
our
field.
As
we
move
toward
these
goals,
we
will
build
on
our
successes
and
harness
the
power
of
genomics
to
revolutionize
healthcare
and
improve
patient
outcomes.

3. What
We
Have
Achieved
In
recent
years
our
work
in
genomics
has
been
transforming
medicine
and
improving
patient
outcomes
in
numerous
ways.
Consider
these
five
highlights:
1. Improvements
in
Sequencing
Technology
and
Analytical
Tools
– Dramatic
increases
in
sequencing
speed
and
efficiency
are
yielding
an
ever-­‐increasing
volume
of
genomic
data.
– Novel
methods
of
analysis,
like
the
powerful
genomics
platform
employed
here
at
WuXi
NextCODE,
have
considerably
advanced
our
understanding
of
genetic
variations
and
their
clinical
significance.
2. Transformations
in
Cancer
Treatment
– The
expanding
use
of
genomic
data
to
guide
treatment
decisions
in
oncology
is
dramatically
changing
the
way
clinicians
approach
cancer
care.
– Our
growing
understanding
of
genetic
predispositions
for
certain
cancers
is
helping
high-­‐risk
individuals
make
informed
choices
about
preventive
care.

4. What
We
Have
Achieved
(Cont’d)
3. Progress
in
Rare
Disease
– Genomics
has
brought
new
hope
to
families
struggling
with
rare
diseases.
– Genomic
data
shortens
diagnostic
odysseys,
guides
treatment,
and
helps
patients,
families,
and
researchers
build
communities.
4. Empowerment
of
Patients
and
Consumers
– Patients
and
consumers
are
increasingly
informed
about
the
innovative
and
meaningful
ways
in
which
genomic
data
can
guide
healthcare
decisions.
– Successes
in
our
field
are
empowering
individuals
to
pursue
personalized
medicine
and
generating
interest
in
direct-­‐to-­‐consumer
testing.
5. Innovations
in
Cloud-­‐Based
Analysis
– The
vast
and
ever-­‐growing
quantity
of
genomic
data
and
related
information
has
sparked
new,
cloud-­‐based
approaches
to
storage
and
analysis.
– WuXi NextCODE’s Exchangeis
at
the
forefront
of
the
accelerated
research
made
possible
by
real-­‐time
collaboration
and
analysis
in
the
cloud.

5. What
We
Can
Achieve
Our
work
in
genomics
will
drive
meaningful
change
over
the
next
few
years.
Consider
these
five
areas
in
which
we
can
make
significant
progress:
1. Effective
Communication
and
Collaboration
– Realizing
the
full
potential
of
big
data
and
cloud-­‐based
computing
will
require
new
efforts
to
dismantle
“data
silos.”
– Recent
initiatives
in
cancer
research
signify
a
willingness
to
share
data
to
improve
patient
outcomes.
– We
encourage
researchers
and
clinicians
throughout
the
field
of
genomics
to
promote
communication
among
all
stakeholders.
2. Policies
for
Research
with
Patient
Data
– Our
field
derives
its
greatest
power
from
careful
analysis
of
genomic
data,
and
access
to
data
is
critical
to
effecting
meaningful
change
in
healthcare.
– In
order
to
gather
this
game-­‐changing
data
– from
patients,
from
consumers,
and
from
population-­‐wide
studies
– we
need
to
develop
and
embrace
policies
that
consider
the
‘biorights’
of
patients.
– We
believe
individuals
who
wish
to
contribute
information
for
research
should
have
the
opportunity
to
do
so,
and
encourage
all
parties
to
communicate
clearly
the
purposes
and
extent
of
data-­‐sharing.

6. What
We
Can
Achieve
(Cont’d)
3. Integration
for
Clinical
Trials
– As
we
move
forward,
clinical
trials
will
increasingly:
• Test
the
efficacy
of
treatments
tailored
to
specific
genetic
anomalies;
and
• Use
genetic
information
to
screen
participants.
– The
use
of
genomics
in
clinical
trials
will
dramatically
accelerate
the
development
of
personalized
therapies
that
will
surely
improve
patient
outcomes.
4. Actionable
Information
from
Population-­‐Wide
Genomic
Studies
– Analysis
of
the
data
we
are
collecting
around
the
world
is
an
essential
step
to
reshaping
healthcare
practices
worldwide.
– In
the
near
future
we
will
reap
significant
rewards
from
projects
that
gather
population-­‐wide
genomic
information.
5. Globalization
of
Genomic
Products:
‘Think
Globally,
Act
Locally’
– The
power
of
genomic
information
is
now
known
across
the
globe,
and
can
be
applied
in
a
multitude
of
positive
ways.
– With
such
widespread
potential,
individual
countries
and
cultures
will
choose
to
advance
and
roll-­‐out
genomics
in
their
own
distinct
ways
for
the
benefit
of
their
citizens.
– Companies
that
develop
genomic
products
will
need
to
adapt
and
design
their
products
for
use
in
specific
markets.
– At
WuXi
NextCODE,
the
first
focus
of
our
product
portfolio
for
individual
patients/families
is
in
China,
where
we
are
delivering
three
offerings:
population-­‐optimized
diagnostics,
carrier
screening,
and
whole-­‐genomic
wellness
scans.

7. Building
on
the
Past,
Driving
the
Future
• Recent
accomplishments
in
our
field
provide
a
solid
foundation
upon
which
we
can
expand
the
data
and
analysis
necessary
for
meaningful
change
in
healthcare.
• The
genomic
revolution
in
medicine
that
we
envisage
will
be
achieved
through
applied
use
of
research
and
development
that
is:
– Fueled
by
big
data,
including
data
provided
by
informed
consumers
and
patients
and
data
derived
from
population-­‐wide
studies;
– Supported
by
clinical
trials
crafted
to
assess
the
safety
and
efficacy
of
treatments
tailored
to
individual
characteristics;
and
– Enabled
by
collaborative
work
and
effective
communication.
• At
WuXi
NextCODE,
we
are
energized
by
the
prospects
for
genomics
in
the
years
to
come.
We
are
proud
to
be
at
the
cutting
edge,
providing
the
tools
and
resources
that
researchers
and
clinicians
need
to
harness
the
transformative
power
of
genomic
data.
And
we
are
confident
that
our
field
will
continue
to
drive
meaningful
changes
in
healthcare
that
improve
patient
outcomes.