Public Health Genomics: Reaching the Summit
JanLowery,PhD,MPHCOCenterforPersonalizedMedicine
Objectives • Definegenomicsinthecontextofpublichealth• Describeexamplesofhowgenomicscanbeintegratedintopublichealthprograms
• Discusstheroleofpublichealthintheemergingfieldofpersonalizedmedicine
Step6
Step5
Step4
Step3
Step1
MountGenome
Step2
Step1:ChartourPath
What is our path? 10 essential PH functions:
• Monitorhealthstatus• Diagnoseandinvestigatehealthproblemsandhazards• Inform,educateandempowerpeopleabouthealthissues.• Mobilizecommunitypartnershipstoidentifyandsolvehealthproblems.• Developpoliciesandplansthatsupportindividual/communityhealthefforts.• Enforcelawsandregulationsthatprotecthealthandensuresafety.• Linkpeopletohealthservices;assureprovisionofcarewhenotherwiseunavailable.• Assureacompetentpublichealthworkforce.• Evaluateeffectiveness,accessibilityandqualityofpopulation-basedhealthservices.• Researchfornewinsightsandinnovativesolutionstohealthproblems.
(https://www.cdc.gov/publichealthgateway/publichealthservices/essentialhealthservices.html)
Step 2: Check our gear
PH Infrastructure, Tools and Resources
• Registries• Birth,death• Cancer• Otherchronicdisease
• Population-basedsurveys• BRFSS,PRAMS,provideraccess
• Preventionservices• Cancerscreening(breast,cervical,colon)
• WiseWomenprogram:CVD• DiabetesandCVDmanagement• Clinicalguidelines
• PHworkforcetraining• ClinicalQualityImprovementProgram
• Accesstoprimarycareproviders,communityclinics,hospitals,localPH
• PHCommunications
• Multi-mediaplatforms• Publicawarenesscampaigns
• CommunityPartnerships• Cancercoalition,localPH,communityclinics,Medicaid/Medicare,hospitals
• Evaluationstaffandexpertise
Step 3: Comply with rules
Recommendations for Genomic Applications in PH
• 1997,CDCOfficeofPublicHealthGenomics(OPHG)established• OPHGprovidestimelyandcredibleinformationfortheeffectiveandresponsibletranslationofgenome-baseddiscoveriesintopublichealth&healthcare
• 2012,OPHGestablishedsystemforevaluating‘readiness’ofgenomicapplicationsbasedonavailableevidence(categorizedintoTiers1-3)
• 3Tier1Applications=readytogo.‘Havesignificantpotentialforpositiveimpactonpublichealthbasedonavailableevidence-basedguidelinesandrecommendations’
• FDAlabelrequiresuseoftesttoinformchoiceordoseofadrug• FDAclearedorapprovedcompaniondiagnosticdevice• CMScoverstesting• Clinicalpracticeguidelinesbasedonsystematicreviewsupportstesting
https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm
Tier 1:Hereditary breast and ovarian cancer
• Womenshouldbescreenedforfamilyhistorythatmaybeassociatedwithanincreasedriskforpotentiallyharmfulmutationsinbreastcancersusceptibilitygenes(BRCA1orBRCA2).Womenwithpositivescreeningresultsshouldreceivegeneticcounselingand,ifindicatedaftercounseling,BRCAtesting.
• 2005/13USPSTFGuideline(https://www.uspreventiveservicestaskforce.org/)• HealthyPeople2020Objective(https://www.healthypeople.gov/2020/topics-objectives/topic/genomics)
Tier 1: Lynch syndrome (LS)
• AllpeoplewithnewdiagnosedcolorectalcancershouldbeofferedgenetictestingforLStoreducemorbidityandmortalityinrelatives.
• 2009,EGAPPrecommendation(https://www.nature.com/articles/gim20095)• HealthyPeople2020Objective(https://www.healthypeople.gov/2020/topics-objectives/topic/genomics)
Tier 1: Familial Hypercholesterolemia • CascadescreeningusingcholesteroltestingwithorwithoutDNAanalysisshouldbeconductedonrelativesofaffectedpersonswithFHinordertoidentifypreviouslyunknowncasesofFHandprovidethosepeoplewithlife-savingtreatment
• NICErecommendation,2013(https://www.nice.org.uk/guidance/qs41)
Tier 1 Applications affect ~2 million Americans • PopulationHealthImpact:
• HBOC:mutationprevalence=1in300to1in500;accountfor5-10%ofbreast,15%ovariancancers;40-80%lifetimerisk;increasedriskforpancreatic,prostatecancer
• Lynchsyndrome:mutationprevalence=1in300;3-5%ofcolorectalcancer;upto80%lifetimerisk;increasedriskforendometrial,smallbowel,liver,ovarian,pancreatic
• FH:mutationprevalence=1in250to1in500;5xriskofcoronaryheartdisease;earlyheartdiseaseandheartattack
• Mostpeopleatrisk,donotknowit• Evidenced-basedinterventionsexisttoreduceriskandmorbidity
Step 4: Forge the trail
Integrate Tier 1 Applications into PH Practice
• Background:In2003;CDCOPHGbeganfundingafewstatestoenhanceimplementationofTier1applicationsintoPH
• Michigan,Oregon,Washington,Georgia,Utah,Connecticut,Colorado• 3Strategies:Education,PolicyandSystemsChange,Surveillance• FocusonHBOCandmorerecentlyLSandFH• 2014OPHGdevelopedtool-kitforstatestoadoptthesestrategies
https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm
Colorado Experience: Getting started
• BuildinfrastructureatCDPHE• HireGenomicsCoordinator• Establishsharedstaffingmodelwith:cancerregistry,comprehensivecancer,healthinformatics,communications,programevaluation
• Establishexternalpartnerships
• UnivColoradoCancerCenter• COSchoolofPublicHealth• CancerCoalition/FamilyHistoryTaskForce• CommunityAdvisoryCommittee• Healthcaresystems
Colorado Experience: Education Goals:§ Increasepublicawareness
o website,socialmedia,video§ Increaseproviderawarenessand
knowledgeabouthereditarycancer
o webinars,presentationstoprovidersandprofessionalsocieties
o In-persontraining:CancerGenetics:
WhyItMattersforPrimaryCarePractice
www.cocancergenetics.org
Gene Video
(https://www.youtube.com/watch?v=jN_jGoHmjZc&t=186s)
Colorado Experience: Policy and Systems Change
• Bi-directionalreportingpilot
• Familyhistoryscreening
• LStumortesting
Bi-directional Reporting
• Goal=identifycancersurvivorsatriskforHBOC/LSandincreasereferralsforgeneticservices
Centralcancerregistry
Hospitaltumorregistry
GeneticsReferral
RunalgorithmtoIDat-riskcancersurvivors
Notifyproviders/patients;referforgeneticservices
CheckpatientEMRforreferral/testingstatusSTOP:useforqualityimprovementpurpose
Bi-directional Pilot Results
Institution1 Institution2 Institution3 Allinstitutions
Totalnumbercases
Numberreferredand/ortested
Totalnumbercases
Numberreferredand/ortested
Totalnumbercases
Numberreferredand/ortested
Totalnumbercases
Numberreferredand/ortested
Breastcancer 42 28(66.7%) 294 96(32.5%) 308 282(91.5%) 644 406(63%)
Ovariancancer 4 4(100%) 55 23(41.8%) 87 78(89.7%) 146 105(72%)
Coloncancer *5 *4(80%) *65 *15(23.8%)
91 65(71.4%) *168 *90(54%)
Uterinecancer 7 6(85.7%)
*Combinedcolonanduterinecancer
Family History Screening
Goal=facilitateimplementationoffamilyhistoryscreeningtoolinto primarycareclinics
SurveyofcommunityclinicsinCOtoassesscurrentpractices:
23%
62%
69%
Third-degree relatives
Second-degree relatives
Relative's age at diagnosis of cancer
Provider discretio
n
Unknown
Genetic testing service
Referralpracticesforgenetics**Mostclinicsdonotcollectadequatefamilyhistorytoreferpatientsforscreeningorgenetics
Familyhistoryroutinelycollected
LS Tumor Testing
• Surveyed44Coloradohospitalstoassesscurrentpractices• 79%reportedthattheyscreenallcoloncancers• 54%haveawrittenpolicyforuniversalLynchscreening(ULS)• Fewerruralhospitalsarescreening
Nextsteps:• DevelopinformationaboutULSimplementationforhospitals• Developreportcardsforhospitalsusingdatafromcentralcancerregistrydata(MSI,IHCforcolonandendometrialtumors)
Colorado Experience: Surveillance • Hereditarycancerburden:Centralcancerregistry
• AlgorithmtoidentifysurvivorsatincreasedriskforHBPC/LSbasedonguidelines• New**addedfieldsfor‘referredforgeneticcounselingand/ortesting’toabstract
• Utilizationofgeneticservices:AllPayorClaimsdata
• Prevalenceofcancerfamilyhistoryandreferraltogenetics;familyhistorycommunication;screeningcomplianceamonghighrisk:
• BRFSSandPRAMssurveys• Added6questionstoBRFSS,2016and2018
Hereditary Cancer Burden in Colorado (per NCCN guidelines)
Syndrome/SpecificCriteriaPeoplemeetingcriteria Peoplemeetingcriteria'exclusively'N % N %
HBOCBreastcancer<=50 32375 45.8% 27022 38.2%Twobreastcancerprimaries 8704 12.3% 5320 7.5%
Breastcancer<=60thatistriplenegativeforER/PR/Her2 720 1.0% 241 0.3%Malebreastcancer 662 0.9% 543 0.8%Ovariancanceratanyage(epithelial,non-mucinous) 13303 18.8% 12267 17.4%Metastaticprostatecancer 7692 10.9% 7666 10.8%AshkenaziJewishdecentwithbreast,ovarianorpancreaticcanceratanyage 319 0.5% 174 0.2%Breastandpancreasanyage 407 0.6% 263 0.4%
LynchSyndromeCRC<50 6177 8.7% 5536 7.8%
CRCatanyagethatisMSIunstableorMMRgenedeficient 514 0.7% 358 0.5%Endometrial<50 2580 3.7% 2318 3.3%EndometrialcaatanyagethatisMSIunstableorMMRgenedeficient NAyet NAyet
CRCwithmetachronousorsynchronousLScancer* 1987 2.8% 802 1.1%EndometrialcawithmetachronousorsynchronousLScancer* 1216 1.7% 152 0.2%Synchronous/MetachronousCRC 2697 3.8% 2017 2.9%
AvailabilityofcancergeneticscounselorsinCO
Distributionofcancercases:Breastcancer<50,ovariancancer
Distributionofcancercases:colon<50,uterinecancer<50
BRFSS Results
• FamHxbreast/ovarianca<50: 11%• FamHxcolonca<60: 6%
• IfYES,referredforgenetics: ~60%
Haveyoueverspokenwithyourmedicalprovideraboutyourfamilyhistoryofcancer?
Step 5: watch the weather
MountGenome
DTC
DTC
DTC
DTC
Watchtheweather
Forgethetrail
Followtherules
Checkgear
Chartpath
Changing Climate: emergence of DTC genetic tests and personalized medicine • >12millionpeopleinUShaveusedDTCsand#saregrowing
• PrecisionMedicineInitiative–AllofUs• Biobanks• Growingdisparitiesinawarenessandknowledge(AmJPrevMed2018;54:6:806-13)
• WhatistheroleofPH?
• Inform,educateandempower• InterpretingDTCtestresults–‘no’newsisnotnecessarily‘good’news• Provideperspective:weightofgenomicsvsotherriskfactors,e.g.obesity
• Linkpeopletoservices;assureprovisionofcarewhenotherwiseunavailable• Establishcentralresourceforgeneticsprovidersaccessibletoall
• Assureacompetentpublichealthworkforce• NeedforimprovedgenomicliteracyamongPHworkers,providers,students
• PHmustbeinvolved!!
Step 6: Finish strong
Sustainability: how do we assure that genomics stays integrated into PH practice? • Problem:
• OutsideofOPHGgrants,nodirectmoneyfor‘genomics’forstatePH• MajorityofPHfundingisfederal(CDC);small%isstatemonies
• Solutions?
• Specifictax,liketobaccotaxinCO.Whatwouldbetaxed?• Extendpartnershipswithnon-for-profitgroups,e.g.Foundations• Establishpublic-privatepartnerships,e.g.withtestinglaboratories?• Re-directexistingfunding(fromstateandCDC)tointegrategenomicsacrossmultiplePHprograms;e.g.cancerregistry,compcancer,cancerscreeningprograms,chronicdiseaseandwellnessprograms
ReachingtheSummit
MountGenomeFinishstrong
Watchtheweather
Forgethetrail
Complywithrules
Checkgear
Chartpath
MountGenome
Finishstrong
Watchtheweather
Forgethetrail
Complywithrules
Checkgear
Chartpath
Acknowledgements CCGATeam• EmilyFields,MS,CGC,ColoradoGenomicsCoordinator• RandiRycroft,MSPH,formerDirectorCOCentralCancerRegistry(CCCR)• JohnArend,MPH,currentDirectorCCCR• LisaKu,MS,CGC,GeneticCounselor,UCCancerCenter• LisenAxell,MS,CGC,GeneticCounselor,UCCancerCenter• ShannonLawrence,ProgramEvaluation,CDPHE• KristinMcDermott,ProgramEvaluation,CDPHE
• CDCOPHG,Grant#DP14-1407
Thankyou!