precision medicine: the big picture
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Alexander Parker, PhDProfessor of rolo!" and E#$de%$olo!"&e'$l$a and Dan &ar%$'hael Fa%$l" Asso'$a(e D$re'(or for (he &en(er for
)nd$*$d+al$ ed Med$'$ne
Pre'$s$on Med$'$nehe .$! P$'(+re
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1/ ) a%, $(ho+( a do+ (, (he ar%-+# a'(/ he
dee# d$*es fro% (he hea*" h$((ers 'o%e la(er/2/ h$s (alk $s a o+( (he en($re f$eld of #re'$s$on
%ed$'$ne, so hen ) +se (he ord e ) do no(%ean Ma"o &l$n$'/
3/ ) $ll +se exa%#les fro% o+r #ra'($'e (o $ll+s(ra(eso%e ke" #o$n(s/
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41 e( 6r$en(ed F$rs(7
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Personalized
Medicine
PrecisionMedicine
IndividualizedMedicine
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Discover and translate new opportunities forindividualizing the prevention, diagnosis and
treatment of disease through the use of the mostadvanced molecular and clinical technologies
available.
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Discover and translate new opportunities forindividualizing the prevention, diagnosis and
treatment of disease through the use of the mostadvanced molecular and clinical technologies
available.
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6;, so ha(
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>h" do so%e #eo#le develop a particulardisease and o(hers donh" do so%e #eo#le respond to a particulartreatment and o(hers donh" do so%e #eo#le $ns$s( oncheering forDuke and not North Carolina?
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“This will revolutionizethe diagnosis,prevention and
treatment of most ,if not all, human
diseases.-.$ll &l$n(on, ?+ne 2000
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!" #ears
$% &illion
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&os( of >hole eno%e @e +en'$n!
?
B C1,000 (ose'uence one h+%an !eno%e
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“The waiting is thehardest part.
- o% Pe((", 1981
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42 he Pra'($'e of Med$'$ne $sransfor%$n!7
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The needs of the
patient come first.
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)nd$*$d+al$ ed Med$'$ne &l$n$'
Next GenerationSequencing
Expert Review andConsultation
Interpretive ReportGenerated
Individuali ed!edicine Consult
Sample Collection"#lood and$or Tissue% &ata Storage$'nal(sisReferral to I! Clinicand Consultation
1/ Referral- ased 2/ @(ar(s and Ends $(h Pa($en(
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Ad*an'ed &an'ers
>e are +s$n! (he la(es( !ene($' se +en'$n!(e'hnolo!$es (o %o*e a a" fro% a“one size fits all
a##roa'h (o 'an'er (rea(%en(
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6ne @$ e Does o( F$( All7• -"ear-old fe%ale $(h 'an'er $n her !all ladder
• &an'er has s#read (o her l+n!s
• er 'an'er d$d no( res#ond (o (hes(andard (hera#"
• @he enrolled $n a 'l$n$'al (r$al of a #oss$ le nedr+! for 'an'ers of (he !all ladder
• o res#onse7
• 6+( of o#($ons
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)nd$*$d+al$ ed Med$'$ne &l$n$'Pro*$des a e o#e
• er on'olo!$s( 'ons+l(ed $(h (he Ma"o )nd$*$d+al$ edMed$'$ne &l$n$'
• ea% d$s'+ssed her 'ase and de(er%$ned she $s !ood
'and$da(e for !eno%$' se +en'$n!• ene($' &o+nselor %e( $(h #a($en( and her on'olo!$s( (oex#la$n #ros and 'ons
• Rese'(ed (he 'an'er and $sola(ed D A• (e'uenced the DN) from the tumor and our team
anal*zed it for “clues• )den($f$ed a %+(a($on $n a !ene 'alled F FR2
• @(ar(ed (ar!e(ed (hera#" a!a$ns( F FR2 +sed $n
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+esponded to a drug we would have N - + thought
of using for this patient.
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Challenges1. While the cost and time to sequence have
plummeted, the analysis still takes time and $$.
2. Sometimes find “hits” ut don!t kno" "hat theymean.
#. Sometimes find “hits” ut the e is no d ug togive.
%. Waiting too late, so should &ust se'uenceea lie (• )ssues of standa d of ca e
• *elevance(doing too ea ly+ Cance s evolve
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e are using the power of genomic
se'uencing to individualize cancertreatment.
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D$a!nos($' 6d"sse"
>e are +s$n! (he la(es( !ene($' se +en'$n!(e'hnolo!$es (o f$nd ans ers for #eo#le $(h d$ff$'+l( (o
d$a!nose d$seases/
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E*er"one Deser*es Ans ers7
• 23 "ear old %ale $(h (re%or, s#as($'$(" and %$ld$n(elle'(+al d$sa $l$("
• E#$sodes of +n'on(rolla le %o*e%en(s • @afe(" r$sk d+e (o falls• )%#a'( a $l$(" (o #erfor% a'($*$($es of da$l" l$*$n!• Mo*e%en(s kee# h$% a ake a( n$!h(
• &l$n$'al and !ene($' e*al+a($ons ere all$n'on'l+s$*e
• @een " B 5 e+rolo!$s(s a( %+l($#le $ns($(+($on
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) d$*$d l$ d M d$'$ &l$ $'
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)nd$*$d+al$ ed Med$'$ne &l$n$'Pro*$des a e o#e
• Ma"o e+rolo!$s( 'ons+l(ed $(h (he )nd$*$d+al$ edMed$'$ne &l$n$'/
• ea% d$s'+ssed (he 'ase and de(er%$ned (h$s #a($en( $s
!ood 'and$da(e for !eno%$' se +en'$n!/• ene($' &o+nselor %e( $(h #a($en( and fa%$l" (o ex#la$n#ros and 'ons/
• 6 (a$ned lood sa%#les fro% (he #a($en(, o(h $olo!$'al#aren(s and (he $olo!$'al +naffe'(edG s$s(er/
• (e'uenced the DN) from all four individualsanal*zed it for “clues .
• )den($f$ed a %+(a($on $n a !ene 'alled ;& A1 h$'h lead
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-he patient has sta ted athe apy aceta/olamide0 to
help cont ol symptoms andimp ove his 'uality of life.
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Challenges1. We don!t al"ays find the ans"e , sometimes
"e come up empty• u lished ates a e 234 of the time "e get a
ans"e in these cases
2. Can unea th a lot of “va iants of unkno"nsignificance”(mo e "o k(mo e $$$
#. 5oesn!t al"ays lead to a t eatment(no action"e can take.
%. 6ducating physicians a out the potential andho" to identify good candidates
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e are using the power of genomic
se'uencing to find answers for patients with difficult to diagnose diseases.
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43 Enhan'$n! he )%#a'(7
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Phar%a'o!eno%$'s
>e are +s$n! !ene($' se +en'$n! (e'hnolo!$es (o hel#!e( (he r$!h( dr+! (o (he r$!h( #a($en( a( (he r$!h( ($%e
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r$al and Error A##roa'h
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• *oughly 34 of all hospital admissions a e dueto adve se d ug eactions 75*s0.
• 75*s ange f om unpleasant(to fatal.
atient Safety
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he #o er $n (a$lored (hera#e+($'s $s for+s (o sa" %ore 'learl" (o #a"ers,
#ro*$ders and #a($en(s7 H(h$s (rea(%en( $no( for e*er"one, +( $( $s for*ou
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Challenge1. Seve al impo tant pha macogenetic
tests have een availa le fo manyyea s, and yet thei adoption in the clinic
emains uncommon.• 8 agmented health ca e system• 9o" use of 6:*s and difficulty integ ating
"ith e;isting 6:*s• System that does not e"a d p evention
2. 9ack of specific guidelines on ho" toad&ust medications on the asis of the
enetic test esults.
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The Clinical /harmacogenetics 0mplementation Consortium
ovide pee < evie"ed, updated, evidence< ased,f eely accessi le guidelines fo gene=d ug pai s
that "ill facilitate the t anslation ofpha macogenomic kno"ledge
f om ench to edside.
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e are integrating genomic information
in to medical care to avoid giving patientsineffective and harmful drugs.
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>$sh (here as %ore ($%e7
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-he 6me ging )ssue(
• eal(h" $nd$*$d+als ex#ress$n! $n(eres( $n (he +se !eno%$' %ed$'$ne >orr$ed >ell , eal(h" +(&+r$o+s , e('/G/
• Pred$'($*e eno%$'s
• # +n($l no e ere d$s'+ss$n! (h$s $n 'on(ex( of a
s#e'$f$' d$sease kno n or +nkno nG• o %o*$n! $n (o s'enar$o (ha( loses (ha( 'on(ex(
• Dee#er bioethical de a(e
• 0nsurance coverage for ser*$'e +nl$kel"
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thical and 1egal 0ssues?
Technolog* read*?
Cost? 0nsurance?
Direct to Consumer Testing?
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Pred$'($*e eno%$'s
>e are offer$n! a %en+ of !eno%$' ser*$'es (oaddress (he needs of heal(h" #a($en(s $n(eres(ed $n
accessing more information the* can use (oenhan'e (he$r heal(h and ellness/
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Disease Raises Many Questions…
What is my risk of developing Disease X?
If I have Disease X, what is the risk Iwill die from it?
If I chose a treatment for Disease X,what is the risk it won’t work for me?
If I undergo treatment, what is myrisk of side e ects?
Now more than ever, the answers
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For %os( h+%an d$seases,o+r !ene($'s se(s a ran!e of#oss$ $l$($es for +s7 +( $( s($ll
%a((ers ha( e do on a da" (oda" as$s/
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Risk isSubjective
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People want
difering levelso in ormation
about their risk
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The samein ormation
about risk canbe interpreted
very diferently
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e are moving forward in /redictive
2enomics.
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Spiderman’s Uncle
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4 Don
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4 Don ( For!e( (he F el for (h$sF$re7
Resear'h has and $ll 'on($n+e (o dr$*e (h$s
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%o*e%en(7
ithout theabilit* to collect,
store and
anal*zebiologicalspecimens, the0ndividualized
3edicinemovement will
stagnate.
Investment in Specimen Storage
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p g
>?
Rochester ArizonaFlorida
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>e %+s( e!$n no (o #re#are for (he f+(+reJ e 'anno( a$( +n($l (he de(a$ls are kno n orf+ll" +nders(ood, nor 'an e ex#e'( (ha( o(hers
$ll address o+r 'on'erns or sol*e o+r#ro le%s7/David &. (chowalter, 3.D. 4!5678977:;Department of 3edical 2enetics
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Midwest
ArizonaFlorida
The !a(o Clinic #io)an*
9!st centur* resource>
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9!st centur* resource>
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45 E"es on (he F+(+re7
Discover and translate new opportunities for
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Discover and translate new opportunities forindividualizing the prevention, diagnosis and
treatment of disease through the use of the mostadvanced molecular and clinical technologiesavailable.
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)t!s not &ust a out 5@7(
)(
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)( s o( ? s( A o ( @( d $n! Peo#le $(hD$sease7
)(
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)( s o( ? s( A o ( D$a!nos$n! and rea($n!D$sease7
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)n(e!ra($on of
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)n(e!ra($on of(e'hnolo!" (akes
($%e77 +( (e'hnolo!" a$(s
for no one/
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D$sr+#($*e e'hnolo!" &an &+( .o(h >a"s7
9%
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“I think there is aworld market formaybe fivecomputers.”
Thomas Watson,Chairman of IB , !"#$
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“%&rays will proveto be a hoa'.”
9o d Aelvinesident of the *oyal
Society, 1??#.
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) C l Thi t T k < d>
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) Couple Things to Take
1. 7dvances in genomic se'uencing a e at thehea t of the p ecision medicine movement.
2. We a e using ne" genomic se'uencing
technology to guide patient ca e(it!s a eality.#. -his is a t ansfo mative time( ut it is ea ly.
-he p omise is still out"eighing the eality.
%. -he e a e a num e of challenges andoppo tunities as "e move fo "a d.
3. @o one "ill accomplish this alone(a t ueteam effo t
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@
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“0 look through a half8opened door into
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g pthe future, full of interest, intriguing
be*ond m* power to describe>
-Dr/ >$ll$a% Ma"o
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hanks/
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=ne more thing>
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=ne more thing>
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Challenge
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Challenge• Seve al impo tant pha macogenetic
tests have een availa le fo manyyea s, and yet thei adoption in the clinic
emains uncommon.• 8 agmented health ca e system• 9o" use of 6:*s• System that does not e"a d p evention
• 9ack of specific guidelines on ho" toad&ust medications on the asis of thegenetic test esults.
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The Clinical /harmacogenetics 0mplementation Consortium
ovide pee < evie"ed, updated, evidence< ased,f eely accessi le guidelines fo gene=d ug pai s
that "ill facilitate the t anslation ofpha macogenomic kno"ledge
f om ench to edside
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