1.
journal homepage: www.elsevier.com/locate/hlpt
Available online at www.sciencedirect.com
The roleofgenomicmedicinein
transforminghealthcare
Heather Frasera,n, AdityaPaib
aIBM, UnitedKingdom
bIBM, Canada
Availableonline22October2014
For thepastthirteenyears,sincethe first draftofthe
Human GenomeProjectwasannounced,hopeshavebeen
high forgenomicmedicinetobethepromiseformany
health conditionsfromdiagnosistotreatment.Afterthe
project wascompletein2003 [1], theinitialexamplesof
success didnotmatchthesehighexpectations.Buttoday
there isarenewedoptimisminthehealthcareindustry.
The decreasedcostofwhole-genomesequencingalongwith
new advancesincognitivecomputinganddrugdiscoveryhas
created anewparadigmwheregenomicdatawillsoonbe
combined withelectronichealthdata.Careprovidersare
increasingly relyingongenomicdatatoaddanotherlevel
of personalizationtoanindividual'scareplan.Cognitive
computing andotheranalyticstechnologiescanprovidefor
precision carewheredecisionsupportenablesareliable
diagnosis andcareplan,alongwithtreatmentoptions.
Although manychallengesstillexist,genomicmedicine
has nowmovedfromavisiontoreality.Itexistsinsmall,but
increasing clustersacrossthehealthcareecosystemwith
examples rangingfromthepredictionofdrugresponseto
the diagnosisofdisease,throughtotheidentification of
targeted therapies.Thisadvanceispartlyduetomajor
advances thathaveoccurredinnext-generationsequencing,
genome-wide associationstudiesandbioinformatics.In
addition, ourviewofthehumangenomehasexpandedto
a broaderviewofthe human asanecosystem [2].
So whatisdifferenttodayandwhatisdrivingthisnew
level ofoptimismforthefutureofgenomicmedicine?
Technologicalinnovation: High-performancecomputing
is instepwiththatofgenediscovery,whole-genome
sequencing costandspeedandmakingtheprocessingof
large datasetseasier.Inaddition,theadventofcogni-
tive computingwhichhasallowedsystemstomakeuseof
natural languageprocessingandmachinelearningto
ingest largeandever-expandingdatavolumes.
Market demand: Theincreasedexpectationandmarket
demand fortargetedproducts,suchasdrugsandtests,
can offersignificant andfasteradvantagesoverthe
traditional industrymethods.Genomicsisalsoconver-
ging withsocialmedia,asevidencedbythesharingof
health experiencesandquestionsonline.Thisconver-
gence hasledtonear-instantdisseminationofnew
discoveries, aswellasnewformsofsocialandscientific
collaboration.
Consumerism: Growingcommercializationofgenomicsis
evidenced bytheincreaseduptakeofdirect-to-consumer
genomic testing,andinmorerecentregulatoryconcerns
and recommendationsaboutsuchtechnologies. [3] Reg-
ulatory andlegislativeprecedents [4,5] to protectcon-
sumers ofgenomicdatahaveledtoincreasedawareness
of itssensitivenature.
Genomic medicineissettobea “game-changer” for
healthcare ecosystemstakeholdersincludingpatients,pro-
viders, researchers,payers,diagnosticcompanies,policy
makers, lifesciencesandgovernmentswithsignificant
impacts alreadyunderway:
Growing useofanewgenomichealthrecord
In thenextfewyears,itislikelythatanindividualwho
interacts withthehealthcaresystemwillhaveagenome-
based electronicrecordor “genomic healthrecord.” This
http://dx.doi.org/10.1016/j.hlpt.2014.10.005
2211-8837/ 2014 FellowshipofPostgraduateMedicine.PublishedbyElsevierLtd.Allrightsreserved.
nCorrespondingauthor.
E-mail addresses: HFRASER@uk.ibm.com (H. Fraser),
ditya.pai@ca.ibm.com (A. Pai).
Health PolicyandTechnology(2014) 3, 223–225

2.
record wouldextractandintegraterelevantelectronic
health datawithaperson'sgenomedataandbeusedin
parallel withotherelectronichealthcaresystemsfordeci-
sion support,prevention,customizedtestingandtreat-
ments. [6] Initially therecordmaynotcontainthewhole
genome sequence,justtheresultsfromtestingspecific
genes.
Adoption ofgenomichealthrecordscanprovideacom-
pletely differentlevelofdecisionsupporttousersof
genomic datathroughtheapplicationofcognitivecomput-
ing. [7] It hasthepotentialtobringuniqueadvancesto
translational medicineandtoclinicaldecisionsupportat
the pointofcarethroughtwocapabilities:understanding
natural languagetextorspeechduringdiagnosisandtreat-
ment; andinterrogatingvastvolumesofmedicalinforma-
tion toprovideanaccurate,probabilisticanswer.
Based ontheavailabilityofaccuratemoleculardiagnostic
tests, targetedtreatmentsandagreaterunderstandingof
pathways andgenesthatleadtospecific cancers,aselect
group ofcancerswouldbeexcellentcandidatestobeused
as aninitialstep.Withthemassiveexpansionofknowledge
across varioushealthconditions,aperson'sgenomichealth
record couldprovidetheultimatesourceofpersonalization
for acareprovider-creatinganentirelynewapproachto
care deliverythatispersonalizedusingmolecularinforma-
tion onindividualsandcombinedwiththeirmostcurrent
healthcare status.
Greater benefits forstakeholdersineach
genomic medicinecornerstone
As thegenomichealthrecordevolves,eachofthethree
cornerstones ofgenomicmedicine(see Figure 1) standsto
benefit substantially:
1. Sequencing: Sequencinghasbecomebothmoreeconom-
icalandmuchfasterthaninrecentyears.However,
Figure 1 Three cornerstonesofgenomicmedicine:sequencing,translationalmedicineandpersonalizedmedicine.
H. Fraser,A.Pai 224

3.
clinicalreliabilityofsuchlarge-scalesequencingefforts
remainsinquestion,especiallywhenwhole-genome
sequencinginformationcouldbeusedfortranslational
medicineandclinicaldecisionmaking.Newadvancesin
whole-genomesequencingtechnologyhaveledtogreater
throughputofsequencingdataatadecreasingcost.And
whenfaster,cheapermachinesoperateinparallel,thou-
sandsofwholegenomesequencescouldbegenerated
annually.
2. Translationalmedicine: Translationalmedicinecan
broadly encompasstheneedfornewmethodologies
and solutionstounderstanddiseasemechanisms.It
includes thediscoveryofbiomarkers,genome-specific
data models,andtheintegrationofgenomicand
non-genomic analyticscapabilitiestodiscoverclinically
useful insights.Translationalmedicinethushasmany
diverse datainputs,suchasgenesequencedata,and
phenotypic andenvironmentalinformation.Althoughthe
capability torapidlyandcheaplysequencethehuman
genome isimportant,translationalmedicineanalyzes
genome datawithcorrespondingphenotypeinformation
to providetherealvaluetoresearcherswhocan
share andvalidatetreatmentinsightsamongtransla-
tional medicinecommunitiestoimprovehealthcareand
advance personalizedhealthcare.
3. Personalized healthcare: Personalizedhealthcare
focuses onanindividualandtheabilityofaclinicianto
provide uniquetreatmentbasedonthepatient'spersonal
characteristics. Genomicmedicinewilladdevenmore
complexity forgeneticists,geneticcounselorsandspe-
cialists, suchasmedicaloncologistswhomustlinka
person's genomicsequencetoappropriateevidence-
based personalizedtreatments.Threespecific areasin
personalized healthcareareexpectedtostandout:even
more advancesincognitivecomputing;greateruseof
disease progressionmodels;andagrowingimpactof
genomic medicineononcology.Oncologyisthe first area
in medicinewheretheimpactofgenomicmedicinehas
already beendocumentedfrompredispositiontestingto
diagnosis, toprecisiontreatmentwithatargeteddrug
[8]. Withareductioninsequencingcosts,theavailability
of multipleoncologydiagnosticpanels,therapidprolif-
eration oftargetedtreatmentsandanewparadigmof
cognitive computing,theoncology field isonethat
should quicklyexperiencethebenefits frompersona-
lized/precision careandanewgenomichealthrecord.
Conclusion
A newgenomichealthrecordwillbecomearealityas
genomic informationismergedwithdatafromthetradi-
tional electronicmedicalrecord.Rapid,precisiononcology
decision supportisexpectedtoexpandonalargerscaleby
performing sophisticatedgenomeanalysiscoupledwith
cognitive computing.Thecapabilitiesandtechnologies
associated withcognitivecomputingarecriticaltothe
ongoing genomicmedicineevolutionbyenablingmuchmore
sophisticated decisionsupport,innovativeclinicaltrials,
new targetedtherapies,andafocusonhealthoutcomes
to preventandalleviatediseasesymptoms.
Funding
None.
Competing interests
None declared.
Ethical approval
Not required.
Acknowledgments
Further insightonthissubjectisavailableinthe
following paper:
Pai,A.,T.KoyamaandL.Lee. “The evolvingpromiseof
genomic medicine:Howadvancedtechnologiesaretrans-
forming healthcareandlifesciences.” IBM Institutefor
Business Value.June2014. 〈http://www-935.ibm.com/ser
vices/us/gbs/thoughtleadership/genomicmedicine/〉.
For moreinformationpleasecontactHeatherFraser,IBM
Institute forBusinessValueGlobalLeadforHealthcareand
Life Sciencesathfraser@uk.ibm.com.
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The 225 roleofgenomicmedicineintransforminghealthcare