As genomics is used more and supported by ever-more robust analysis and interpretation, its potential to offer a solution to rare disease diagnosis is truly game-changing.

1. Genomics:
Shi-ing
the
Paradigm
for
Rare
Diseases
Hannes
Smarason
Genome
Sequencing
|Personalized
Medicine
|
Transforming
Health
Care

2. Genomics
Holds
Huge
Poten<al
Value
for
Rare
Disease
Diagnosis
• There
are
more
than
7,000
rare
diseases
• Rare
diseases
can
be
chronic,
progressive,
debilita<ng,
disabling,
severe,
and
life-­‐threatening
• Rare
diseases
affect
nearly
1
in
10
people

3. Rare
Diseases
Trigger
“Diagnos<c
Odysseys”
• When
a
pa<ent
presents
with
unusual
symptoms,
a
costly
scramble
begins
to
diagnose
the
disease
• Pa<ents
and
their
families
are
subjected
to
test
a-er
test
while
being
handed
from
one
doctor
to
another,
frequently
necessita<ng
travel
to
medical
centers
far
from
home
• Too
o-en,
this
odyssey
yields
no
clear
diagnosis
or—worse—misdiagnosis

4. Genomics
Offers
a
Game-­‐Changing
Solu<on
• Approximately
80%
of
rare
diseases
are
thought
to
have
gene<c
origins,
according
to
US
NIH
• Genomic
sequencing,
interpreta<on,
and
analysis
decipher
the
gene<c
evidence
of
rare
diseases
• Diagnoses
informed
by
genomics
are
bringing
an
end
to
diagnos<c
odysseys

5. Bloomberg
BusinessWeek
Ar<cle
Highlights
Great
Examples
Jackie
Smith,
age
35
• From
the
age
of
3,
doctors
could
not
find
a
diagnosis
to
account
for
Jackie’s
weak
limbs
and
turned-­‐
in
ankles.
• Jackie’s
parents
were
once
told
to
“enjoy
her
while
they
could”
because
her
disease
“probably
would
kill
her
before
she
was
old
enough
to
drive.”
• Last
February,
using
genomic
interpreta<on
and
analyses
from
WuXi
NextCODE,
Claritas
Genomics
defini<vely—and
in
less
than
three
weeks—iden<fied
her
condi<on
as
centronuclear
myopathy,
a
condi<on
that
primarily
affects
skeletal
muscles
Dus<n
Bennec,
age
24
• Dus<n
would
tremble
and
jerk
for
hours
or
days
at
a
<me
and
has
been
developmentally
delayed
since
childhood
• Incorrect
diagnosis
le-
family
challenged,
frustrated
• A
Mayo
Clinic
genomic-­‐based
analysis
showed
he
suffers
from
episodic
ataxia
type
I,
a
neurological
disease
characterized
by
hours-­‐long
acacks
with
no
clear
trigger
Source:
Cortez,
Michelle
“Si#ing
DNA
Databases
for
the
Right
Diagnosis”,
September
10,
2015,
Bloomberg
BusinessWeek.

6. Genomics
Brings
Help,
Value
to
Rare
Disease
Care
• Correct
diagnosis
with
geneCc
precision
can
end
costly,
frustraCng
diagnosCc
odyssey,
helping
paCents
and
adding
value
to
the
health
care
system
broadly
• As
powerfully
expressed
in
Bloomberg
BusinessWeek:
While
there
isn’t
yet
a
cure,
Smith
is
par?cipa?ng
in
research
that
may
one
day
lead
to
treatments
or
more
suppor?ve
care.
“Just
being
connected
feels
good.
I
felt
alone
for
a
long
?me,”
she
says.
“And
I
want
to
do
it
for
the
bigger
picture,
too.
Not
just
for
myself,
but
so
I
can
be
counted.”
Source:
Cortez,
Michelle
“Si#ing
DNA
Databases
for
the
Right
Diagnosis”,
September
10,
2015,
Bloomberg
BusinessWeek.