This document discusses how 2015 marked a turning point for genomics and personalized medicine on a global scale. It highlights that rare diseases are an area where genomics has significantly advanced diagnosis by making testing available worldwide. Many countries now have active programs to diagnose rare diseases using genomic sequencing. The document also notes that governments around the world are increasingly supporting genomics research and initiatives to scale up the use of genomic data to improve healthcare.

1. 2015
=
An
Inflec-on
Point
for
Genomics:
Shi:ing
the
Global
Care
Paradigm
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. Diagnosing
Rare
Diseases:
Genomics
Goes
Global,
Shi:s
Paradigm
• Rare
diseases
are
an
area
of
significant
advancement
for
genomics,
driven
by
the
important
goal
of
reaching
all
people
around
the
world,
no
maAer
where
they
live
• AcCve
programs
are
underway
in
many
populous
countries
around
the
world,
and
WuXi
NextCODE
has
established
collaboraCve
efforts
on
three
conCnents,
most
recently
adding
Fudan
Children’s
Hospital
as
a
partner
in
its
efforts
to
lead
whole
genome
diagnosCcs
for
rare
diseases
in
China

3. Global
Genomics:
Bringing
an
End
to
Diagnos-c
Odysseys
• Across
the
globe,
every
day
there
are
new
cases
of
children
with
“unknown”
diseases.
– Approximately
80%
are
related
to
a
hereditary
geneCc
disorder.
– Children
with
rare
diseases
and
their
families
oWen
spend
years
undergoing
tesCng
and
experimental
treatments
for
a
wide
range
of
diseases.
– These
“diagnosCc
odysseys”
are
usually
accompanied
by
a
very
high
financial
and
emoConal
burden.
• Genomics
can
deliver
a
correct
and
precise
diagnosis
for
rare
diseases
that
have
iden-fiable
gene-c
causes.
• The
benefits
of
genomics
in
rare
diseases
–
to
individuals,
their
families,
and
their
physicians
–
are
increasingly
making
a
difference
to
paCents.
These
benefits
are
being
scaled
globally,
as
leading
medical
centers
in
many
countries
are
using
genomics
to
support
diagnosis
and
treatment
of
rare
diseases.

4. Global
Genomics
in
2015:
Governments
as
Catalysts
• Around
the
globe,
governments
are:
– AcCvely
promoCng
widespread
uClizaCon
of
genomics;
– SupporCng
academic
research;
– Establishing
industry
guidelines;
and
– Raising
public
awareness.
• The
increasing
efforts
of
officials
worldwide
to
engage
with
and
support
the
private
sector’s
tremendous
potenCal
is
helping
to
drive
the
successful
use
and
applicaCon
of
genomics
worldwide.

5. Global
Genomics
in
2015:
Governments
as
Catalysts
A
few
of
this
year’s
highlights
in
the
United
States
• President
Obama
made
precision
health
one
of
the
centerpieces
of
his
State
of
the
Union
address
in
January.
Obama’s
administraCon
is
requesCng
a
$215M
investment
in
a
Precision
Medicine
IniCaCve
with
the
following
key
aAributes:
– CollecCon
and
analysis
of
genomic
data
from
a
million
or
more
volunteers;
– Expanded
research
into
the
geneCc
mutaCons
that
drive
cancer;
– Funding
to
maintain
databases
and
develop
industry
standards.
– Through
the
NaConal
InsCtutes
of
Health
and
the
NaConal
Cancer
InsCtute,
the
federal
government
proposed
dozens
of
new
funding
opportuniCes
to
support
research
in
geneCc
sequencing
and
analysis.

6. Global
Genomics
in
2015:
Governments
as
Catalysts
And
a
few
of
this
year’s
highlights
worldwide:
• Germany
and
the
U.K.
expanded
eligibility
for
government-­‐funded
geneCc
tesCng
for
breast
cancer
paCents.
• Israel
announced
its
intent
to
establish
a
government-­‐sponsored
geneCc
database.
• Japan
launched
an
IniCaCve
on
Rare
and
Undiagnosed
Diseases
to
provide
genomic
analysis
and
expert
consultaCon
for
up
to
1,000
individuals
with
childhood
onset
of
undiagnosed
condiCons.
• Through
Genomics
England,
the
U.K.
Department
of
Health
tapped
WuXi
NextCODE
and
others
to
begin
interpretaCon
in
its
groundbreaking
100,000
Genomes
Project.
• WuXi
NextCODE
and
the
Sidra
Medical
and
Research
Center
partnered
to
power
populaCon
genomics
and
precision
medicine
in
Qatar.
Our
partnership
will:
– Facilitate
clinical
diagnosCcs;
– Accelerate
research;
and
– Support
the
Qatar
Genome
Project.

7. Global
Genomics:
Game-­‐Changing
Poten-al
• Large-­‐scale
populaCon
studies
are
an
essenCal
step
in
harnessing
the
power
of
genomics
to:
– End
diagnosCc
odysseys
for
rare
diseases;
and
– Improve
health
worldwide.
• Since
WuXi
NextCODE’s
foundaConal
heritage
as
part
of
deCODE
GeneCcs’
landmark
analysis
of
Icelanders,
we
have
always
developed
the
tools
to
help
translate
sequence
data
into
precision
medicine
on
a
large
scale.
– In
our
work
with
Genomics
England,
our
collaboraCon
with
Fudan
Children’s
Hospital
to
diagnose
rare
diseases
in
China,
and
our
partnership
with
Sidra,
WuXi
NextCODE
is
leading
the
effort
to
realize
the
potenCal
of
genomics
on
a
truly
global
scale.