exposome & expotype - exploring new challenges for health informatics research and education in...
TRANSCRIPT
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FernandoMartin-Sanchez
Exploring New Challenges for Health Informatics Research and Education in the Context of Precision Medicine
Fernando Martin-Sanchez PhD, FACHI, FACMIDivision of Health Informatics
Department of Healthcare Policy and Research&
Honorary ProfessorMelbourne Medical School
The University of Melbourne
hpr.weill.cornell.edu
19Feb2017
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FernandoMartin-Sanchez
Outline
1Intro to Digital Health and Precision Medicine
3Participatory HealthInformatics
2ExposomeInformatics
4The US All of Us Research Program)
IMPACT
ON
EDUCATION
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FernandoMartin-Sanchez
Intro to Digital Health and Precision Medicine
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FernandoMartin-Sanchez
Digital Health (Interesting times, …)
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FernandoMartin-Sanchez
Digital Medicine (Convergence of digital revolution and medicine)
• Wehavewitnessedtheimpactofthedigitalrevolutioninotherdomains(banking,insurance,leisure,government,…)
• Althoughdigitaltechnologyhasgreatlyaffectedhealthcareatthehospitalorresearchcentrelevel.
• Thedigitalrevolutionhasnotyetreachedmedicineatthepatient/citizenlevel
• THISISSTARTINGTOHAPPENNOW!!!
Shaffer,D.W.,Kigin,C.M.,Kaput,J.J.&Gazelle,G.S.Stud.HealthTechnol.Inform.80,195–204(2002)
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FernandoMartin-Sanchez
Availability of wearable devices, sensors, apps, DTC services and Social Networks
Wearables
Sensors
DTClabtests
Apps
SocialMedia
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FernandoMartin-Sanchez
Personalized Medicine
• The term ‘personalisedmedicine’ was coined in 1999 by Robert Langrethand Michael Waldholz(Wall Street Journal reporters) in an article to describe the development by pharmaceutical companies of: “acornucopiaofpersonalized
medicinesthatwillproducehugeprofitsintothenextcentury”.
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FernandoMartin-Sanchez
Defining Precision Medicine• Precision Medicine is an approach to
discover and develop medicines, vaccines or routes of intervention (behavior, nutrition, etc.) that enable disease prevention and deliver superior therapeutic outcomes for patients, by integrating “Big Data”, clinical, molecular (multi-omics including epigenetics), environmental and behavioral information to understand the biological basis of disease.
C.M.Christensenetal..Theinnovator’sprescriptionadisruptivesolutionforhealthcare.McGraw-Hill,2008
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FernandoMartin-Sanchez
Defining Precision MedicineReport by US Nat Academies:
Towards Precision Medicine New taxonomy based on human molecular biology
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FernandoMartin-Sanchez
PersonalisedMedicine
Datasources:
PrecisionMedicine
Newdatasources,PGHDExposome(environmentaldata)MetabolomicsProteomicsMicrobiomeEpigenome
Genomics(genomicvariants)Phenotype(clinicalrecords)
Personalised vs Precision Medicine
PMcombinestheknowledgeofthepatient’scharacteristicswithtraditionalmedicalrecordsandenvironmentalinformationtooptimizehealth.
PMdoesnotonlyrelyongenomicmedicinebutalsointegratesanyotherrelevantinformationsuchasnon-genomicbiologicaldata,clinicaldata,environmentalparametersandthepatient’slifestyle.
ServantNetal.FrontGenet.2014;5:152.
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FernandoMartin-Sanchez
Why Precision Medicine?
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FernandoMartin-SanchezYour logo here
Inthepast,capturingindividualhealthdataatsystematiclevelwasunfeasiblebuttechnologicaladvancesarerapidlyaddressingthisproblem
Genome / GenotypeExposome/Expotype
Phenome /Phenotype
Biomarkers(DNAsequence,Epigenetics)
Environmentalriskfactors(pollution,radiation,toxicagents,…)
Anatomy,Physiological,biochemicalparameters(cholesterol,temperature,glucose,heartrate…)
Social media / Integrated personal health record / Research repositories
WHYDIGITALHEALTHISIMPORTANTFORPRECISIONMEDICINE?
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FernandoMartin-Sanchez
HealthInformatics
Bioinformatics
Proteomics and
MetabolomicsData
Geneexpression
Data
GenomicData
Patientgenerated
Data
PopulationData
ClinicalData
??
Areweready?
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FernandoMartin-Sanchez
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FernandoMartin-Sanchez
ExposomeInformatics
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FernandoMartin-Sanchez
P = G * E
Exposome
Genome
Phenome
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FernandoMartin-Sanchez
Genome*Exposomeà Phenome
• 70%–80%ofchronicdiseasesareattributedtoenvironmentalfactors
• Geneticcontributionforcancerordegenerativediseasesismodest(≈10%).
Science 26Apr2002:
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FernandoMartin-Sanchez
ExposomeandExpotype
Exposome isthetotalityofallenvironmental(meaningallnon-genetic)exposuresofanindividualoverhisorherlifetime(Wild,2005)Expotype isthespecificsetofexposome elementsofanindividualaccumulatedduringacertaintime/space andresponsibleforaparticularphenotype(Martin-SanchezandLopez-Campos,2016)
Genotype*Expotypeà Phenotype
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FernandoMartin-Sanchez
Exposome Informatics. JAMIA 2014
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FernandoMartin-Sanchez
• Databasesü CDC NHANESü CTDü AcTORü T3DB
• Ontologiesü ExO
• Analysis and visualisationü EWAS
(HOW?) Resources + Data flow
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FernandoMartin-Sanchez
Disease exposomes
WorkconductedwithDr V.Aguiar-Pulido,BrainandMindInstitute,WCM
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FernandoMartin-SanchezYour logo here
• A• B• C• D• E• F• G• H• I
Your title(HOW?)
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FernandoMartin-Sanchez
From data to knowledge: the abstraction
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FernandoMartin-Sanchez
Choosing the best ontology or vocabulary
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FernandoMartin-Sanchez
Participatory Health Informatics
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FernandoMartin-Sanchez
History of Participatory Health
• Tom Ferguson MD (died in 2006)
• Coined the term e-patient• “e-patient: how they can help
us to heal health care”
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FernandoMartin-Sanchez
History of Participatory Health• September 2009 – California Healthcare
Foundation Report: “Participatory Health: Online and Mobile Tools Help Chronically Ill Manage Their Care”
• “Partnership between patients and providers and trusted experts, one in which participation is enabled and enhanced by technology and information”
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FernandoMartin-Sanchez
Participatory Health2009.à Patientsempowered,informedandinvolvedindecisionmaking,preventionandlearning
ReginaHolliday
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FernandoMartin-Sanchez
E-patients
• Gimme my damn data!• The patient will see you now…• Let patients help• Nothing about me without me!
• Dave de Bronkart• Regina Holliday• Hugo Campos• Salvatore Iaconesi• Stephen Keating• Sonia Vallabh & Eric Minikel• Stephen Damiani• Matt Might
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FernandoMartin-Sanchez
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FernandoMartin-Sanchez
Open Notes – Patients reading Doctor’s notes
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FernandoMartin-Sanchez
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FernandoMartin-Sanchez
Patient reported outcomes
• Health services and outcomes research
• Measuring quality of care from the patient perspective
NHS PROMs
NIH
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FernandoMartin-Sanchez
Human behavior is complex…
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FernandoMartin-Sanchez
Therapeutic affordances of social media
(Dr. Mark Merolli, A/Prof Kathleen GrayUniv. of Melbourne)
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FernandoMartin-SanchezSource:http://www.commpro.biz/social-media-zone/top-14-things-to-talk-about-on-social-a-quick-and-dirty-list/
Source:http://pointsandfigures.com/2011/07/24/periodic-table-of-social-media/
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FernandoMartin-Sanchez
ResearchQuestion ResearchAim
Howcanweexplainsocialmedia’seffect
onthehealthoutcomesofpeoplewithchronic
disease?
Todevelopaframeworktogenerateevidenceofhealthoutcomesfromsocialmediauseinchronicdiseasemanagement
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FernandoMartin-Sanchez
TASoMe (TherapeuticAffordancesofSocialMedia)Methodology
Merolli M,GrayK,Martin-SanchezF.DevelopingaFrameworktoGenerateEvidenceofHealthOutcomesFromSocialMediaUseinChronicDiseaseManagement.Med2.0,2013.2(2):e3.
1 2 3
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FernandoMartin-Sanchez
Self-presentation
Connection
Exploration
Narration
Adaptation
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FernandoMartin-Sanchez
1. Merolli M, Gray K, Martin-Sanchez F, Lopez-Campos G. Patient-Reported Outcomes and Therapeutic Affordances of Social Media: Findings From a Global Online Survey of People With Chronic Pain. J Med Internet Res, 2015
2. McAlpine H, Joubert L, Martin-Sanchez F, Merolli M, Drummond KJ. A systematic review of types and efficacy of online interventions for cancer patients. Patient Educ Couns. 2015 Mar;98(3):283-295.
3. Merolli M, Martin-Sanchez F, Gray K. Social Media and Online Survey: Tools for Knowledge Management in Health Research, in Seventh Australasian Workshop on Health Informatics and Knowledge Management. HIKM 2014, J. Warren and K. Gray, Editors. 2014, Conferences in Research and Practice in Information Technology (CRPIT): Auckland, New Zealand. p. 21-29.
4. Merolli M, Gray K, Martin-Sanchez F, Schulz P. Expert insights on the design and implementation of interactive patient websites for people with chronic pain. Stud Health Technol Inform, 2014. 204: 110-115.
5. Merolli M, Gray K, Martin-Sanchez F. Therapeutic Affordances of Social Media: Emergent Themes From a Global Online Survey of People With Chronic Pain. J Med Internet Res, 2014
6. Merolli M, Gray K, Martin-Sanchez F. Health outcomes and related effects of using social media in chronic disease management: A literature review and analysis of affordances. Journal of Biomedical Informatics, 2013. 46(6): 957-969.
7. Merolli M, Gray K, Martin-Sanchez F. Developing a Framework to Generate Evidence of Health Outcomes From Social Media Use in Chronic Disease Management. Med 2.0, 2013. 2(2): e3.
8. Miron-Shatz T, Hansen MM, Grajales FJ 3rd, Martin-Sanchez F, Bamidis PD. Social Media for the Promotion of Holistic Self-Participatory Care: An Evidence Based Approach. Contribution of the IMIA Social Media Working Group. Yearb Med Inform. 2013;8(1):162-8.
Publications
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FernandoMartin-Sanchez
Self-Quantification
Image:TheEconomist
(Dr.ManalAlmalki,A/ProfKathleenGray,Dr.GuillermoLopez,Univ.ofMelbourne)
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FernandoMartin-Sanchez
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FernandoMartin-Sanchez
Self-Quantification
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FernandoMartin-Sanchez
Newjobs?
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FernandoMartin-Sanchez
PublicationsAlmalki M,GrayK,Martin-SanchezF.ActivityTheoryasaTheoreticalFrameworkforHealthSelf-Quantification:ASystematicReviewofEmpiricalStudies.JMedInternet Res.2016May27;18(5):e131.doi:10.2196/jmir.5000.Review.PubMed PMID:27234343;PubMed CentralPMCID:PMC4909388.
GrayK,Martin-SanchezFJ,Lopez-CamposGH,Almalki M,Merolli M.Person-generatedDatainSelf-quantification.AHealthInformaticsResearchProgram.MethodsInf Med.2017Jan9;56(1):40-45.doi:10.3414/ME15-02-0006.PubMedPMID:27782291.
Almalki M,GrayK,Martin-SanchezFJ.RefiningtheConceptsofSelf-quantificationNeededforHealthSelf-management.AThematicLiteratureReview.MethodsInf Med.2017Jan9;56(1):46-54.doi:10.3414/ME15-02-0007.PubMedPMID:27523820.
Almalki M,GrayK,SanchezFM.Theuseofself-quantificationsystemsforpersonalhealthinformation:bigdatamanagementactivitiesandprospects.HealthInf Sci Syst.2015Feb24;3(Suppl 1HISABigDatainBiomedicineandHealthcare2013Con):S1.doi:10.1186/2047-2501-3-S1-S1.PubMedPMID:26019809;PubMedCentralPMCID:PMC4437547.
Almalki,M,Gray,K&Martin-Sanchez,F2014a,'Classificationofdataandactivitiesinself-quantificationsystems',inproceedingof HISABIGDATA2014conference.
G.Lopez-Campos,M.Almalki,andF.Martin-Sanchez,“ProposalforaStandardised ReportingGuidelinetoAnnotateHealth-relatedSelf-QuantificationExperiments,”StudHealthTechnol Inform, vol.202,pp.79-82,2014.
Almalki M,SanchezFM,GrayK.Quantifying the Activities of Self-quantifiers:Managementof Data,TimeandHealth.Stud HealthTechnol Inform.2015;216:333-7.PubMedPMID:26262066.
Almalki,M,Gray,K&Martin-Sanchez,F2014b,'MinimalInformationaboutHumanComputerInteractionFramework:AComprehensiveSystematicApproachtothePracticeofSelf-QuantificationforHealthMaintenance',Proc.AustralasianWorkshoponHealthInformaticsandKnowledgeManagement.
Almalki,M,Martin-Sanchez,F&Gray,K2013,Self-Quantification:TheInformaticsofPersonalDataManagementforHealthandFitness,InstituteforaBroadband-EnabledSociety(IBES),TheUniversityofMelbourne,HealthandBiomedicalInformaticsCentre,UniversityofMelbourne,9780734048318,<http://www.broadband.unimelb.edu.au/resources/white-paper/2013/Self-Quantification.pdf>.
Almalki,M,Gray,K&Martin-Sanchez,F2015,'TheUseofQuantified-SelfTechnologiesforHealthSelf-Management:ASystematicReviewofEmpiricalResearch',IEEEJournalofBiomedicalandHealthInformatics,SensorInformaticsandQuantifiedSelfspecialissue.(Underreview).
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FernandoMartin-Sanchez
The Precision Medicine Initiative (All of Us Research Program)
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FernandoMartin-Sanchez
Becausesomethingcalledprecisionmedicine...givesus
oneofthegreatestopportunities fornewmedical
breakthroughsthatwehave everseen.”
FormerUSPresidentBarackObama- January30,2015
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FernandoMartin-Sanchez
• Precision medicine is an approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle. Precision medicine seeks to redefine our understanding of disease onset and progression, treatment response, and health outcomes through the more precise measurement of molecular, environmental, and behavioralfactors that contribute to health and disease. This understanding will lead to more accurate diagnoses, more rational disease prevention strategies, better treatment selection, and the development of novel therapies.
• Coincident with advancing the science of medicine is a changing culture of medical practice and medical research that engages individuals as active partners – not just as patients or research subjects. We believe the combination of a highly engaged population and rich biological, health, behavioral, and environmental data will usher in a new and more effective era of American healthcare.
PMIWorkingGroupoftheAdvisoryCommitteetotheNIHDirector
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FernandoMartin-Sanchez
All of Us partners• Data and Research Center (Vanderbilt U, Verily,
Broad I.)• Participatory Technologies Center (Scripps,
Vibrent)• Biobank (Mayo Clinic)• HealthCare Provider Organizations:
o Columbia University Medical Center, Weill Cornell, Harlem Hospital, New York Presbyterian, New York City
o Northwestern University, Chicagoo University of Arizona, Tucsono University of Pittsburgh at Pittsburgho Geisinger Health Systemo California Precision Medicine Consortium
(University of California, California Consortium)o New England Precision Medicine Consortiumo Trans-American Consortium for the Health Care
Systems Research Network (TACH) (Henry Ford Medical Center)
• Veteran affairs Medical Center• +6 Federally Qualified Health Centers
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FernandoMartin-Sanchez
PMI Cohort• One million or more volunteers:
o Be recontactableo Collect EHR data, provide biospecimen, survey, and complete a
baseline exam • Longitudinal cohort, with continuing interactions, recontactable for
secondary studies • Two methods of recruitment –
o Direct volunteers, Anyone can sign upo Healthcare provider organizations
• Consider HPO diversity, robustness of EHR, patient follow-up
joinallofus.org
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FernandoMartin-Sanchez
Participant Interaction Flow
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FernandoMartin-Sanchez
Concluding remarks:Impact on HI education
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FernandoMartin-Sanchez
surveyofcurrentbiologicalandmedicalresearchapplicationsofelectroniccomputers
Biomedicalresearchworkerforrapidlycollectiveextensiveamountsofdata Collegesanduniversitiesshould
beencouragedtoincludeintheregularcurriculaofbiologyandpre-medicalstudentsthosebasicmathematicaldisciplinesrequiredforcomputeruseaswellasforquantitativebiology
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FernandoMartin-Sanchez
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FernandoMartin-Sanchez
Education in Biomedical Informatics
Martin-Sanchezetal,JAMIA2015Environment
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FernandoMartin-Sanchez
CHIA
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FernandoMartin-Sanchez
CHIA
52competences,6areas
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FernandoMartin-Sanchez
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FernandoMartin-Sanchez
NIH -BD2K - BDC4CM
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FernandoMartin-Sanchez
Final remarks
• Precision medicine enables a safer, more efficient, preventive and proactive medicine, but needs to tackle the complexity and diversity of personal health information, beyond the genome sequence.
Topol E.Cell2014
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FernandoMartin-Sanchez
Third pillar of medical science –Health Systems Science
HealthSystemsScience
ClinicalScience
BasicScience
Humanfactors,Teamwork,Finances,Policy,Systemsengineering,Leadership,Patientimprovementstrategies
https://www.ama-assn.org/education/teaching-new-content-health-systems-science
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FernandoMartin-Sanchez
HealthInformaticians
Whatcliniciansthinkwedo Whatbioinformaticians thinkwedo WhatITpeoplethinkwedo
Whatwereallydo…WhathospitalCEOsthinkwedo WhatmymomthinksIdo
© – FernandoMartin-Sanchez
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FernandoMartin-Sanchez
Thankyouforyourattention!
@fermarsan