exposome & expotype - exploring new challenges for health informatics research and education in...

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


Outline

1Intro to Digital Health and Precision Medicine

3Participatory HealthInformatics

2ExposomeInformatics

4The US All of Us Research Program)

IMPACT

ON

EDUCATION


Intro to Digital Health and Precision Medicine


Digital Health (Interesting times, …)


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)


Availability of wearable devices, sensors, apps, DTC services and Social Networks

Wearables

Sensors

DTClabtests

Apps

SocialMedia


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”.


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


Defining Precision MedicineReport by US Nat Academies:

Towards Precision Medicine New taxonomy based on human molecular biology


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.


Why Precision Medicine?

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?


HealthInformatics

Bioinformatics

Proteomics and

MetabolomicsData

Geneexpression

Data

GenomicData

Patientgenerated

Data

PopulationData

ClinicalData

??

Areweready?


ExposomeInformatics


P = G * E

Exposome

Genome

Phenome


Genome*Exposomeà Phenome

• 70%–80%ofchronicdiseasesareattributedtoenvironmentalfactors

• Geneticcontributionforcancerordegenerativediseasesismodest(≈10%).

Science 26Apr2002:


ExposomeandExpotype

Exposome isthetotalityofallenvironmental(meaningallnon-genetic)exposuresofanindividualoverhisorherlifetime(Wild,2005)Expotype isthespecificsetofexposome elementsofanindividualaccumulatedduringacertaintime/space andresponsibleforaparticularphenotype(Martin-SanchezandLopez-Campos,2016)

Genotype*Expotypeà Phenotype


Exposome Informatics. JAMIA 2014


• Databasesü CDC NHANESü CTDü AcTORü T3DB

• Ontologiesü ExO

• Analysis and visualisationü EWAS

(HOW?) Resources + Data flow


Disease exposomes

WorkconductedwithDr V.Aguiar-Pulido,BrainandMindInstitute,WCM

FernandoMartin-SanchezYour logo here

• A• B• C• D• E• F• G• H• I

Your title(HOW?)


From data to knowledge: the abstraction


Choosing the best ontology or vocabulary


Participatory Health Informatics


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”


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”


Participatory Health2009.à Patientsempowered,informedandinvolvedindecisionmaking,preventionandlearning

ReginaHolliday


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


Open Notes – Patients reading Doctor’s notes


Patient reported outcomes

• Health services and outcomes research

• Measuring quality of care from the patient perspective

NHS PROMs

NIH


Human behavior is complex…


Therapeutic affordances of social media

(Dr. Mark Merolli, A/Prof Kathleen GrayUniv. of Melbourne)

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/


ResearchQuestion ResearchAim

Howcanweexplainsocialmedia’seffect

onthehealthoutcomesofpeoplewithchronic

disease?

Todevelopaframeworktogenerateevidenceofhealthoutcomesfromsocialmediauseinchronicdiseasemanagement


TASoMe (TherapeuticAffordancesofSocialMedia)Methodology

Merolli M,GrayK,Martin-SanchezF.DevelopingaFrameworktoGenerateEvidenceofHealthOutcomesFromSocialMediaUseinChronicDiseaseManagement.Med2.0,2013.2(2):e3.

1 2 3


Self-presentation

Connection

Exploration

Narration

Adaptation


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


Self-Quantification

Image:TheEconomist

(Dr.ManalAlmalki,A/ProfKathleenGray,Dr.GuillermoLopez,Univ.ofMelbourne)


Self-Quantification


Newjobs?


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).


The Precision Medicine Initiative (All of Us Research Program)


Becausesomethingcalledprecisionmedicine...givesus

oneofthegreatestopportunities fornewmedical

breakthroughsthatwehave everseen.”

FormerUSPresidentBarackObama- January30,2015


• 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


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


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


Participant Interaction Flow


Concluding remarks:Impact on HI education


surveyofcurrentbiologicalandmedicalresearchapplicationsofelectroniccomputers

Biomedicalresearchworkerforrapidlycollectiveextensiveamountsofdata Collegesanduniversitiesshould

beencouragedtoincludeintheregularcurriculaofbiologyandpre-medicalstudentsthosebasicmathematicaldisciplinesrequiredforcomputeruseaswellasforquantitativebiology


Education in Biomedical Informatics

Martin-Sanchezetal,JAMIA2015Environment


CHIA


CHIA

52competences,6areas


NIH -BD2K - BDC4CM


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


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


HealthInformaticians

Whatcliniciansthinkwedo Whatbioinformaticians thinkwedo WhatITpeoplethinkwedo

Whatwereallydo…WhathospitalCEOsthinkwedo WhatmymomthinksIdo

© – FernandoMartin-Sanchez


Thankyouforyourattention!

@fermarsan

exposome & expotype - exploring new challenges for health informatics research and education in...

Health & Medicine