SlideShare a Scribd company logo
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
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
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. 
References 
[1] NationalInstitutesofHealth.Anoverviewofthehumangenome 
project: whatwasthehumangenomeproject?NationalHuman 
Genome ResearchInstitute.November8,2012. 〈http://www. 
genome.gov/12011238〉. 
[2] McCarthy JJ,McLeodHL,Ginsburg.GS.Genomicmedicine:a 
decade ofsuccesses,challenges,andopportunities.SciTransl 
Med 2013;5:189sr4. 
[3] PolliF.Why23andmedeservesasecondchance.ForbesJanuary 
2014. 〈http://www.forbes.com/sites/fridapolli/2014/01/14/ 
why-23andme-deserves-a-second-chance/〉. 
[4] GeneticInformationNondiscriminationAct(GINA)of2008. 
National HumanGenomeInstitute. 〈http://www.genome.gov/ 
24519851〉. 
[5] PerkelJM.Genepatentsdecision:everybodywins.Scientist 
June 2013. 〈http://www.the-scientist.com/?articles.view/arti 
cleNo/36076/title/Gene-Patents-Decision–Everybody-Wins/〉. 
[6] FridlyJ,SimonRM,WalrathJC,RoachN,BullerR,Schenkein 
DP, etal.Considerationsforthesuccessfulco-developmentof 
targeted cancertherapiesandcompaniondiagnostics.NatRev 
Drug Discov2013;12:743–55. 〈http://www.nature.com/nrd/jour 
nal/v12/n10/abs/nrd4101.html?WT.ec_id=NRD-201310〉. 
[7] Cognitivecomputing.IBMResearch. 〈http://www.research.ibm. 
com/cognitive-computing/index.shtml〉. 
[8] BursteinHJ.ThedistinctivenatureofHER2-positivebreast 
cancers. NEnglJMed2005;353(16):1652–4. 〈http://www.nejm. 
org/doi/full/10.1056/NEJMp058197〉. 
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The role of genomic medicine in transforming healthcare

  • 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. References [1] NationalInstitutesofHealth.Anoverviewofthehumangenome project: whatwasthehumangenomeproject?NationalHuman Genome ResearchInstitute.November8,2012. 〈http://www. genome.gov/12011238〉. [2] McCarthy JJ,McLeodHL,Ginsburg.GS.Genomicmedicine:a decade ofsuccesses,challenges,andopportunities.SciTransl Med 2013;5:189sr4. [3] PolliF.Why23andmedeservesasecondchance.ForbesJanuary 2014. 〈http://www.forbes.com/sites/fridapolli/2014/01/14/ why-23andme-deserves-a-second-chance/〉. [4] GeneticInformationNondiscriminationAct(GINA)of2008. National HumanGenomeInstitute. 〈http://www.genome.gov/ 24519851〉. [5] PerkelJM.Genepatentsdecision:everybodywins.Scientist June 2013. 〈http://www.the-scientist.com/?articles.view/arti cleNo/36076/title/Gene-Patents-Decision–Everybody-Wins/〉. [6] FridlyJ,SimonRM,WalrathJC,RoachN,BullerR,Schenkein DP, etal.Considerationsforthesuccessfulco-developmentof targeted cancertherapiesandcompaniondiagnostics.NatRev Drug Discov2013;12:743–55. 〈http://www.nature.com/nrd/jour nal/v12/n10/abs/nrd4101.html?WT.ec_id=NRD-201310〉. [7] Cognitivecomputing.IBMResearch. 〈http://www.research.ibm. com/cognitive-computing/index.shtml〉. [8] BursteinHJ.ThedistinctivenatureofHER2-positivebreast cancers. NEnglJMed2005;353(16):1652–4. 〈http://www.nejm. org/doi/full/10.1056/NEJMp058197〉. The 225 roleofgenomicmedicineintransforminghealthcare