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8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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NIH Precision Medicine Initiative:Turning Discovery into Health
Gary H. Gibbons, M.D.Director
National Heart, Lung, and Blood Institute
National Press Foundation Precision Medicine MeetingMayo Clinic
Rochester, MN
May !, "#$
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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NIH Precision Medicine Initiative (PMI) Overview and Implementation
Te PMI and te Nation!s Healt NH"#I $cienti%ic &ision %or PMI
NIH Precision Medicine Initiative %PMI&:Turning Discovery into Health
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'hat is the Precision Medicine ())roach*
(n e+erging a))roach to disease )revention,diagnosis and treat+ent
Considers the uniue genes and environ+ent o-
each )atient Provides the right treat+ent, at the right ti+e,
tailored to a )atient.s individual needs
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Precision Medicine
'oncept is not new Consider )rescri)tion eyeglasses, /lood trans-usions0
Pros)ects -or /roader a))lication raised /y recent advancesin /asic research, technology develo)+ent, geno+ics,)roteo+ics, +eta/olo+ics, 1HRs, Big Data, +Health, etc2
Rein-orced /y "# National Research Council re)ort
at is needed now Develo)+ent o- rigorous research )rogra+ to )rovide
scienti-ic evidence to turn conce)t into reality
Recruit+ent o- the /est and /rightest -ro+ +ulti)le disci)lines
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Current ())roach to Patient Care: (nnual Physical 13a+s and 4ne56i7e5Fits5(ll Care
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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'hat I-* Diagnose and Treat an Individual PatientBased on Re-ined Patient Classi-ication and Treat+ent 4utco+es
Dianostic Precision ** +e%inin te 'linical 'lassi%ication o% Disease
Movin beyond ** One*$i-e*its*/ll!
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No +esponse0Deat/dverse 1vents/dverse 1vents
'hat I-* Diagnose and Treat an Individual PatientBased on Re-ined Patient Classi-ication and Treat+ent 4utco+es
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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No +esponse0Deat/dverse 1ventsNo +esponse0Deat
'hat I-* Diagnose and Treat an Individual PatientBased on Re-ined Patient Classi-ication and Treat+ent 4utco+es
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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'hat I-* Diagnose and Treat ( PatientBased on Re-ined Patient 6u/sets and Treat+ent 4utco+es
No +esponse0Deat/dverse 1ventsMar2ed +esponse to "owest Dose
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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+itDr3
+itDose
+itTime
+itPerson
No +esponse0Deat/dverse 1ventsPrecision Medicine /pproac
'hat I-* Diagnose and Treat an Individual PatientBased on Re-ined Patient Classi-ication and Treat+ent 4utco+es
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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'hy No8* Recent Develo)+ents Ma9e ThisThe Right Ti+e
1lectronic Healt +ecordsPatient Partnersips
GenomicsTecnoloies
Data $cience
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI: Ti+ing is 1verything
Ten 4ears /o Now 5 6789(most recent data)
'ost o% $e:3encin a H3man
Genome"",###,### ### 5 $###
/mo3nt o% Time to $e:3encea H3man Genome " years ; day
N3mber o% $mart Pones inte ;nited $tates
+illion %;"
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Precision Medicine and 6tate o- the Anion
…. So tonight, I’m launching a new Precision
Medicine Initiative to bring us closer to curingdiseases like cancer and diabetes, and to give
all of us access to the personalized information
we need to keep ourselves and our families
healthier. e can do this.
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Cystic Fi/rosis and Precision Medicine Discovery 6cience that Trans-or+s Lives
CFTR gene identi-ied led to earlier diagnosisand i+)roved sy+)to+ +anage+ent
NIH5-unded research revealed CFTR +utations
resulting cellular actions that cause i+)airedlung -unction
Ne8 co+/ination thera)y targeting the +ostco++on CFTR +utations is trans-or+ing thelives o- )atients living 8ith CF2
CF e)ito+i7es the )ro+ise o- )recision +edicine discovery o- disease +echanis+s
re-ined diagnostic disease classi-ication individuali7ed, +utation5s)eci-ic thera)ies2
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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8882nih2govE)recision+edicine
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI: ision and Goals
ision: Build a /road research )rogra+ toencourage creative a))roaches to )recision+edicine, test the+ rigorously, and,ulti+ately, use the+ to /uild the evidence
/ase needed to guide clinical )ractice2
Near Ter+: a))ly the tenets o- )recision +edicine to a+aor health threat 5 cancer
Longer Ter+: generate the 9no8ledge /ase necessary to+ove )recision +edicine into virtually all areas o- healthand disease
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI Pro)osed 6u))ort:President.s Budget F=
/ency = Million
NIHJ Cancer J Cohort
"##K#
>#
FD( #
4--ice o- the NationalCoordinator -or HealthIn-or+ation Technology
$
TOT/" =68>
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Longer ter+ -ocus on range o- health issues diseases Longitudinal cohort o- M or +ore (+ericans Mi3 o- e3isting cohorts and ne8 volunteers
NIH (dvisory Co++ittee to the Director PMI 'or9ing Grou))lanning +eetings
Building a consortiu+ o- cohorts cohort identi-icationand )artici)ant recruit+ent
Partici)ant engage+ent, data )rivacy, and novel 8ays o-
returning in-or+ation to )artici)ants Data collection including +o/ile health technologies
Data science, in-or+atics 1lectronic Health Records
NIH PMI Planning
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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NIH (dvisory Co++ittee to the Director PMI 'G Pu/lic 8or9sho)s to in-or+ 6e)te+/er "#$ re)ort
NIH 8ith 'hite House, FD(, other agencies 6ee9ing in)ut -ro+:
-Potential )artici)ants
- Leaders o- current cohorts
- +Health technology develo)ers
- 1HR develo)ers
-Potential international )artners
Oct. 8, 678>?PMI la3nc@ %)ending F"#= a))ro)riations&
Near5Ter+ Ti+elines
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI Near Ter+: Cancer
())ly tenets o- )recision +edicine to cancer Build on The Cancer Geno+e (tlas %TCG(& that hascharacteri7ed geno+ic -eatures o- +any cancers in ,###)atients
Ase NCI clinical trials as +odels %e2g2, NCI5Match, Lung5M(P& to: Identi-y ne8 cancer su/ty)es and thera)eutic targets 6creen tu+ors -or certain geno+ic -eatures
(d+inister thera)ies s)eci-ic -or a geno+ic signature
Test )recision thera)ies, 8ith )rivate sector )artners
())ly these a))roaches to: ( 8ide s)ectru+ o- adult and )ediatric cancers
1arly stage to advanced disease
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI and Cancer Research:Possi/le Near5Ter+ ())lications
1valuating use o- liuid /io)sies -or non5invasive detectiono- tu+or res)onse
Anderstanding, counteracting develo)+ent o- resistance to
targeted thera)ies
Deter+ining )ros)ects o- co+/ination targeted thera)y /asedon individual tu+or geno+e analysis
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI Longer Ter+
Generate 9no8ledge /ase needed to +ove )recision +edicineinto the 8hole range o- health and disease
To reach this goal, the PMI 8ill su))ort research to: Create ne8 a))roaches -or detecting, +easuring, analy7ing a
8ide array o- /io+edical varia/les: +olecular, geno+ic,
cellular, clinical, /ehavioral, )hysiological, and environ+ental
Test these a))roaches in s+all, )ilot studies
Atili7e the +ost )ro+ising a))roaches in greater nu+/ers o-)eo)le over longer )eriods o- ti+e to collect data o- great value
to /oth researchers and )artici)ants
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI Longer Ter+:National Research Cohort of 1 million
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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PMI National Research Cohort
'ill co+)rise: ? +illion A262 volunteers Nu+erous e3isting cohorts %+any -unded /y NIH&
Ne8 volunteers
Partici)ants 8ill /e: Centrally involved in design, i+)le+entation (/le to share geno+ic data, li-estyle in-or+ation, /iological
sa+)les all lin9ed to their electronic health records
'ill -orge ne8 +odel -or scienti-ic
research that e+)hasi7es: 1ngaged )artici)ants
4)en, res)onsi/le data sharing8ith )rivacy )rotections
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Meta5CohortNHLBI Core
Cohorts
To8ard Creating a National PMI Research Cohort:Potential Contri/ution o- 13isting NHLBI Cohorts
!"# in $amil% !ohorts&
Me'ican (merican
)ld )rder (mish
#iverse *+S
!linical !ohorts&
(sthma and !)P#
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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National Research Cohort: Possi/le Ases
Facilitate research on thera)eutic sa-etyEe--icacyE+eta/olis+ 6tudy resilience /y -inding )eo)le 8ho should /e ill /ut aren.t
Ancover thera)eutic targets /y identi-ying rare variants)rotective against disease
Provide un/iased uantitative deter+ination o- ris9 4--er )o8er-ul test /ed -or:
Incor)orating )atient5re)orted outco+es
I+)roving utility o- 1HRs
1valuating 8ide array o- +Health a))lications
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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'oort Datasets
Genomics
Proteomics0MetabolomicsiP$'s
#i Data* Ontoloies'omp3tational Models
Interate 5omics, clinicalimain, and ealto3tcome data in te
In%ormation 'ommons
#iorepositoriesImain
/st3te 'liniciansPenotypin
'hat I-* 'e Created a Large56cale Precision MedicineIn-or+ation Co++ons Re-lective o- 4ur Diverse Nation
Mobile Healt
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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NIH Precision Medicine Initiative (PMI) Overview and Implementation
Te PMI and te Nation!s Healt NH"#I $cienti%ic &ision %or PMI
NIH Precision Medicine Initiative:Turning Discovery into Health
Th 1 - P i i M di i
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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P3blic HealtImplementation
$cience
'ollaboration0+ole o%Ind3stry
'linical+esearc
#asic+esearc
Observational$t3dies
The 1+ergence o- Precision Medicine: ( NHLBI 6uccess 6tory (n Integrative ())roach
Fra+ingha+ Predictive Ris9 Factors
Intra+ural Research Progra+:Frederic9son, 6tadt+ans
Clinical Research:Tangier.s Disease%HDL Cholesterol&
Bro8n and Goldstein: No/el Pri7e%LDL Cholesterol&
NHLBI Trial: Lo8ering Cholesterol Cuts CHD Ris9
Roy agelos: 6tatins
alue o- Li-estyle Interventions
Di 6 i d P i i M di i
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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+aal et al. 'irc3lation 6786A86BC697*698E
Discovery 6cience and Precision Medicine:"in2in "are F $mall $cale $cience and P3blic*Private Partnersips
'h t I-* ( l P i i M di i t (dd
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Incident 'ronic idney ail3re#y +ace
'hat I-* ())ly Precision Medicine to (ddressHealth Dis)arities
/stma*related1merency +oom &isits
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Reducing (sth+a Health Dis)arities: ( Multi5)ronged, Patient5Centric Precision Medicine ())roach
Movin beyond ** One*$i-e*its*/ll!
'omm3nity
1nvironment
amily
Individ3al-enetics
ehavior
!ulture
Schoolsualit%
Medical !are
Parks
*ealth
S%stems
Socio/!ultural
!onte't 0conom%
P i i M di i P ti t C t i C i C t t
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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/stma Healt'are $ystem
Precision Medicine 55 Patient5Centric Care in Conte3t:The Inter)lay o- Genes, Behavior and 1nviron+ent
Ho+e
Co++unity
Fa+ily
Genetics
6chool
(llergens
'h t I-* B t di ti / t d / t d
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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'hat I-* Best diagnostics, /est drug, /est dose /est outco+es -or all asth+a )atients
'linical $t3diesDo health dis)arities re-lect the rightdrugEright dose )ro/le+*J Best (-rican (+erican Res)onse to
(sth+a Drugs (#/+D)
Discovery o% Mediators0#iomar2ers (re there distinctive /iological -actors thatdrive racialEethnic dis)arities in asth+a*
/stma*related 1+ &isits
Patient*'entered/stma 'ontrol
1+)o8ering Patient 6el-5Manage+ent o- (sth+aJ Geos)atial air uality +onitor J Inhaler use alertsJ Patient5/ased /reathing testJ Patient5re)orted outco+es
mHealt
'h t I-* OB d th C . - R i l H lth I iti
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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'hat I-* OBend the Curves. o- Racial Health Ineuities/y Precisely Predicting and Pre5e+)ting CD
CDC, @@=
Incident 'ronic idney ail3re
#y +ace
(-rican ancestry
6hared (-rican and1uro)ean ancestry
1uro)ean ancestry
Genomics
+isin Medicare 'osts
or 'D
Genomic /dmit3re /nalysisC/%rican /merican
-
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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The 1cosyste+s o- Race5(ncestry Health Dis)arities:The O13)oso+e., Po)ulation History and Geno+ic ariation
1nvironment 01posome
Imm3ne De%ense $ystems
$ic2le 'ellD3%%y /ntien
G*B*PD
Infection
Host Genomic &ariation
'omm3nity
1nvironment
amily
Individ3al-enetics
ehavior
!ulture
Schoolsualit%
Medical !are
Parks
*ealth
S%stems
Socio/!ultural
!onte't 0conom%
'h t I-* R d P t 6 i A i 6t d C h t
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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'hat I-* Re)roduce Past 6uccesses in Asing 6tudy Cohortsto Identi-ying Molecular Mediators o- Health Dis)arities
#iversit% in 1*+I/funded !ohorts& S!2 was associated with higher risk of
!3# in (frican (mericans.
JAMA. "#Q>"%"#&:"$5""$
(P4L Ri 9 i t - id F il i (- i ( i
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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? $5-old increased ris9 o- 16D Hy)ertension, HI(N, 6CD "< o- (( have " ris9 alleles %GEG"& (lso "5-old increased ris9 o- CD
(P4L Ris9 ariant -or idney Failure in (-rican5(+ericans:Increased Ris9 o- Chronic idney Disease and CD
/ssociation o% Trypanolytic/po"8 &ariants wit idney
Disease in /%rican*/mericansG Genovese, D Fried+an0B
o)), 1 Pays, MR Pollac9
> (ugust "##
olu+e >"@, Issue $@@>
( T T ( T C C T T T ( ( ( ( T ( ( ( C T ( G ( ( T>=# >K# >!#
(
Start anti-
hypertensive andstatin treatmentat lower goal of130/80 in at-riskAPOL1/S!"arriers
Angiotensin#lo"kers in Afri"an-Ameri"ans withhigh-riskAPOL1/S!genotype
$ew dr%gstargetingmediatorsdownstream ofAPOL1 /S! toprevent kidneyfail%re
Parmacoenomics New terapies+is2 prediction
1volving Medicine as an In-or+ation 6cience:
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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1volving Medicine as an In-or+ation 6cience: De+ocrati7ing Data5"5no8ledge in the Digital (ge
Partici)ant Patients: The Center o- the
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Partici)ant5Patients: The Center o- thePrecision Medicine Initiative
'illia+ 1lder r2 1+ily 'hitehead 1lana 6i+on
Melanie Ni3Hugh and
Beatrice Rienho--aree+
(/dul5a//arNoah and
(le3is Beery
'hat I-* 'e (cti el 1ngaged and 1+)o ereed the P /lic
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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1estatchC 1na/les citi7ens tocontri/ute data trac9ing /ird
/ehavior in their area
Patients +ike MeC 1na/les)atients to share e3)erience9no8ledge and relationshi)s
-or change40) C 6lee)5'a9eCycle Citi7en Data
earable Mobile *ealth
2echnolog%&Patient5centric data generation
'hat I-* 'e (ctively 1ngaged and 1+)o8ereed the Pu/licin OCiti7en56cience. -or Healthier Co++unities
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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Carla.s 6tory in "#!
olunteers to ta9e )art in NationalResearch Cohort
Cares -or her +other 8ho su--ered astro9e /ut -eels healthy2
Her DN( )ro-ile reveals a APOL1
variant that increases ris9 -or 9idneyand cardiovascular disease2
4--ered o))ortunity to try out8eara/le sensor to continuously
+onitor /lood )ressure, )hysicalactivity, diet, slee) )atterns, etc2 inds er blood press3re is
consistently i
8/9/2019 From the Human Genome Project to the NIH Precision Medicine Initiative
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The Po8er o- +illion0
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uestions