Significant insights gained from population-scale genomic studies will help to enable a new reality of personalized medicine and treatment.

1. Popula'on-­‐Scale
Research
Efforts
Enabled
by
Progress
in
Sequencing
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. The
ability
to
sequence
whole
genomes
quickly
and
economically
is
driving
interest
in
popula?on-­‐scale
sequencing
efforts
that
can
reveal
meaningful
insights
on
a
much
more
systema?c
basis
than
previous
approaches.

3. Ini'a'ves
Around
the
World
• A
range
of
large
ini?a?ves
announced
recently
are
prime
examples
of
the
trend
in
popula?on
sequencing
– Industry
programs
by
Regeneron
and
Human
Longevity
– The
100,000
Genomes
Project
by
Genomics
England
• Perhaps
beOer
than
any
other
effort
since
the
founding
of
deCODE
gene?cs
in
Iceland,
the
establishment
of
a
high-­‐
throughput
Genomics
Center
at
Sidra
Medical
and
Research
Center
in
Qatar
embodies
the
movement
toward
these
types
of
popula?on
studies

4. Popula'on
Mapping
in
Qatar
• The
eventual
project
goal:
sequence
the
en?re
Qatari
popula?on
of
some
300,000
people
• The
Sidra
facility
will
help
advance
gene?c
mapping
projects
– Plans
to
create
an
Arab
consensus
genome
to
obtain
a
beOer
understanding
of
gene?c
variants
that
influence
health
across
Arab
popula?ons
• Center
will
also
focus
on
uncovering
the
causes
of
rare
gene?c
diseases

5. Significant
Insights
to
be
Gained
• The
significant
insights
that
can
be
gained
from
popula?on-­‐scale
studies,
based
on
the
knowledge
of
gene?c
varia?on
and
disease
causa?on,
will
help
to
enable
a
new
reality
of
personalized
medicine
and
treatment.

6. Proper
Analysis
is
Cri'cal
• This
is
where
efficient,
powerful
and
industrial-­‐scale
analysis
will
become
cri?cal.
• NextCODE’s
analy?cs
and
interpreta?on
systems
have
already
been
tested
at
such
scale,
as
they
are
based
on
the
world’s
first
and
largest
popula?on
genomics
effort
–
that
of
deCODE.

7. Our
systems
will
be
useful
tools
to
efficiently
deliver
insights
based
on
the
vast
amount
of
data
that
will
be
generated
by
these
major
popula?on-­‐based
efforts
to
improve
the
state
of
global
healthcare.