Genomics has become a foundation for virtual patient-centric communities involving patients, caregivers, clinicians, and researchers worldwide.

1. Genomics:
Forging
Patient-­‐Centric
Communities
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. Genomics
and
the
Evolution
of
Patient-­‐Centric
Communities
• In
recent
years,
genomics
has
become
a
foundation
for
virtual
patient-­‐centric
communities.
These
are
communities
built
on
the
Internet
and
through
social
media
that:
– Connect
people
touched
by
a
disease
or
disorder;
and
– Reach
out
to
broad
populations
affected
by
rare
diseases.
• Patient-­‐centric
communities
develop
resources
and
advice
for
patients
and
families
– and
increasingly
collaborate
with
clinicians
and
researchers.
• Consider
two
examples:
– RareConnect is
an
online
platform
that
connects
patients,
caregivers,
clinicians,
and
researchers
in
more
than
eighty
disease-­‐specific
communities.
– PatientsLikeMe has
activities
that
encompass
more
than
400,000
members
with
over
2,500
conditions.
• Many
of
these
diseases
and
conditions
are
identified
by
genetic
abnormalities
or
characteristics.
Participants
in
RareConnect,
PatientsLikeMe,
and
similar
sites
are
drawn
in
part
to
the
ways
in
which
genomics
can
contribute
to
an
accurate
diagnosis,
a
novel
treatment,
and
ultimately
a
cure.

3. Genomics
Provides
Essential
Elements
for
Strong
Communities
• As
we
learn
more
about
the
genetic
variations
that
contribute
to
diverse
conditions,
virtual
communities
that
are
fueled
by
genomics
are
increasingly
useful
resources
for
patients,
caregivers,
clinicians,
and
researchers.
• Genomics
serves
the
goals
of
patient-­‐centric
communities
by:
– Linking
patients
and
caregivers
to
each
other;
and
– Connecting
patients
to
research
initiatives
that
use
genetic
sequencing
to
diagnose
conditions
and
guide
treatment.
• Patient-­‐centric
communities
break
down
the
barriers
of
isolation
and
uncertainty
that
can
compromise
care.
Virtual
communities
provide
information
and
support
that
links
patients
and
caregivers
worldwide.
Incorporating
genomic
information
expands
this
influence
by
forging
essential
connections
to
clinicians
and
researchers.
• The
expanded
role
of
genomics
in
creating
and
strengthening
patient-­‐centric
communities
improves patient
outcomes
today,
while
influencingresearch
for
better
therapies
tomorrow.

4. Genomics
and
Patient-­‐Centric
Communities:
Rare
Diseases
• The
use
of
genomics
to
build
communities
has
been
especially
important
for
rare
diseases.
• An
excellent
article
in
The
Atlantic tells
the
story
of
one
young
woman
whose
experience
illustrates
this
phenomenon.
A
genomic
study
identified
the
genetic
mutation
that
underlies
Lilly
Grossman’s
movement
disorder.
The
information
provided
by
genomics
became
the
foundation
of
a
virtual
community:
– Lilly's
case
has
acted
as
a
magnet
for
others
with
the
same
mutation.
Families
with
the
same
problem
read
about
Lilly’s
case
and
contacted
the
Grossmans.
Doctors
and
geneticists
looked
at
their
own
patients
and
saw
a
new
explanation
behind
puzzling
symptoms.
Before,
there
were
isolated
pockets
of
people
around
the
world,
dealing
with
their
own
problems,
alone
for
all
they
knew.
Now,
there’s
a
community.
• For
families
like
the
Grossmans,
genomics
provides
the
vital
link,
the
piece
of
information
that
identifies
individuals
with
similar
experiences
– the
community
of
people
who
understand.
Patient-­‐centric
communities
are
one
way
in
which
the
increasing
availability
of
cost-­‐effective
genetic
sequencing
is
transforming
patient
experiences,
shortening
diagnostic
odysseys,
and
improving
clinical
care.
Source:
Ed
Yong,
“How
Genome
Sequencing
Creates
Communities
Around
Rare
Disorders,”
September
21,
2015,
The
Atlantic.

5. Genomics
and
Patient-­‐Centric
Communities:
Advocacy
and
Fund-­‐Raising
• Many
patient-­‐centric
communities
are
critical
for
advocacy
and
fundraising.
Parent
Project
Muscular
Dystrophy(PPMD),
for
instance,
has
demonstrated
how
parents
and
caregivers
can
effect
meaningful
change,
raising
both
awareness
and
financial
resources
– and
even
being
a
leading
voice
in
support
of
FDA
approval
of
therapeutics.
• The
intersection
of
genomics
and
social
media
increasingly
drives
progress,
too.
The
Charlotte
&
Gwyneth
Gray
Foundation,
for
example,
has
raised
an
estimated
$3.5
million
to
support
CLN6-­‐Batten
disease
research
– through
a
crowdfunding
initiative
launched
less
than
a
year
ago.
• And
coalitions
of
patient-­‐centric
communities
can
achieve
significant
advances
through
the
power
of
numbers.
Thus
Genetic
Alliance,
a
network
of
more
than
10,000
organizations,
was
a
key
player
in
passage
of
the
Genetic
Information
Nondiscrimination
Act
and
in
development
of
the
National
Patient-­‐Centered
Clinical
Research
Network.

6. Genomics
and
Patient-­‐Centric
Communities:
Research
Initiatives
• Patient-­‐centric
communities
facilitate
connections
between
patients
and
researchers
– connections
that
become
more
powerful
through
genomics.
Communities
and
genomics
together
power
numerous
initiatives
that
run
the
gamut
from
efforts
to
identify
a
handful
of
individuals
with
rare
diseases
to
projects
that
aim
to
enroll
thousands
of
participants.
Some
examples:
– The
University
of
Washington
recently
launched
MyGene2,
a
site
where
families
with
rare
conditions
can
publicly
post
their
stories,
establishing
connections
not
only
with
those
who
share
similar
stories
but
also
with
clinicians
and
researchers.
– 23andMe has
partnered
with
a
number
of
Parkinson’s
community
groups
on
a
project
to
gather
genetic
data
from
more
than
11,000
individuals.
– And
the
Simons
Foundation
Autism
Research
Initiative (SFARI)
has
launched
SPARK,
a
project
to
collect
genomic
information
from
50,000
people
with
autism
and
their
families.
At
WuXi
NextCODE we
are
delighted
to
participate
in
this
endeavor
by
providing
direct
online
access to
the
data.

7. Genomics:
The
Nexus
Between
Evidenced-­‐
Based
Medicine
and
the
Empowered
Patient
• Genomics
plays
a
critical
role
in
the
evolution
of
patient-­‐centric
communities
and
promotes
their
collaborations
with
clinicians
and
researchers.
• Through
voluntary
contributions
of
personal
knowledge
– and
genomic
data
–
participants
in
patient
communities
are
expanding
the
impact
of
genomics
on
medicine.
• The
growing
power
of
virtual
communities
is
facilitating
numerous
initiatives
to
improve
patient
outcomes
through
improved
diagnosis,
optimized
standards
of
care,
and
new
directions
for
promising
research.
• From
rare
diseases
to
disorders
that
affect
millions,
all
stakeholders
increasingly
use
genomics
to
translate
individual
experiences
and
expertise
into
meaningful
improvements
in
the
lives
of
patients
and
their
caregivers.
• At
WuXi
NextCODE we
are
proud
to
advance
the
role
of
genomics
not
only
in
patient
care
but
also
in
the
evolution
of
strong,
effective
patient-­‐centric
communities.