Knoppers

Copenhagen
September. 2015
Bartha&M.&Knoppers
Canada.Research.Chair.in.Law.and.Medicine
Chair.of.the.GA4GH.Regulatory.and.Ethics.
Working.Group.and.Member.of.GA4GH.Steering.
Committee
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Sharing&Genomic&Data:&The&
Global&Alliance&for&Genomics&
and&Health
Obstacles&in&Genomics
• Lack.of.policy.harmonization
• Lack.of.structural.support
• Legal.and.ethical.hurdles
• Cultural.barriers
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B..M..Knoppers,.J..R..Harris,.I..BudinMLjøsne,.E..S..Dove,.A.human.
rights.approach.to.an.international.code.of.conduct.for.genomic.
and.clinical.data.sharing..Human&Genetics&133,$895(903$(2014).
Mission&(GA4GH&Constitution,&2014)
To accelerate progress in human health by helping to
establish a common framework of harmonized
approaches to enable effective and responsible sharing
of genomic and clinical data, and by catalyzing data
sharing projects that drive and demonstrate the value
of data sharing
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Organizational&Members&
Global&Alliance&members&include:
1. Universities. and.research.
institutes
2. Academic.medical.centers.
and.health.systems
3. Disease.advocacy.organizations.and.
patient.groups
4. Consortia.and.professional.
societies
5. Funders.and.agencies
6. Life.science.and.information.
technology.companies
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344+
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THE.GA4GH.does.NOT:.
•Generate.or.store.data
•Perform.research.or.care.for.patients
•Interpret.genomes
•Collaborate.exclusively..with.entities. that.have.
and.share.data
(GA4GH)
GA4GH&Framework$for$Responsible$
Sharing$of$Genomic$and$Health(Related$
Data
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• Current.frameworks.are.founded.on.the.principle.of.protection.
from.harm..In.contrast,
• GA4GH.Framework.aims.to.activate the.right.to.science.and.
the.right.to.recognition.for.scientific.production.by.promoting.
responsible.data.sharing..
(http://genomicsandhealth.org/framework)
Human&Rights&Foundation
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Universal&Declaration&of&Human&Rights,&(1948)
“The&Right&to&Science”
27(1).“Everyone.has.the.right.freely.to.participate.in.the.
cultural.life.of.the.community,.to.enjoy.the.arts.and.to.share.
in.scientific.advancement.and.its.benefits.”
“The&Right&to&Recognition&for&Scientific&Production”
27(2).“Everyone.has.the.right.to.the.protection.of.the.moral.
and.material.interests.resulting.from.any.scientific,.literary.or.
artistic.production.of.which.he.is.the.author.”
Right&to&Science&=&Access&to&Data
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Image.based.on.American.Association. for.the.Advancement.of.Science (AAAS,.2010)
GA4GH
ACTIVATING.the.Right.to.Science
AAAS
Scientific community must.nurture.awareness.of.broad.social.context.
and.human.rights.implications
UNESCO&Venice$Statement
Identified.roles.of.States,.the.private.sector/commercial.enterprise,.
and.the.scientific.community..
Framework Policies Tools 9
Why&Human&Rights?
• Universalizing.force
• Political.and.legal.dimensions.that.reach.
beyond.the.moral.appeals.of.bioethics
• International.legal.force
• Belong.to.groups.as.well.as.individuals.
(reciprocity)
• Impose.positive.duties.on.governments.and.
private.actors
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Legal&Force
• Dual.rights.rendered.legally.binding.by.the.
International.Covenant.on.Economic,.Social.and.
Cultural.Rights.(ICESCR).(1966).– Article.15..
• 164.States.have.ratified.the.ICESCR.
• States.are.bound.to.implement.the.treaty.in.their.
national.laws.
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The&Right&to&Science&!
Actionable
Strong&protection&in&3&critical&areas
Contours.of.responsible.access,.
sharing,.and.attribution.delineated.by.
other.human.rights:
1. privacy;.
2. antiMdiscrimination.and.fair.access;.
and.
3. procedural.fairness.
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Framework$for$Responsible$ Sharing$of$Genomic$
and$Health(Related$ Data
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Available.in.10.other.languages.on.the.GA4GH.website..Thanks.to.all.who.contributed!.
• Arabic
• Chinese
• French
• Greek
• Japanese
• Portuguese
• Spanish
• German
• Hindi
Πλαίσιο.για.την.Υπεύθυνη.Κοινοχρησία.Γονιδιωματικών.και.άλλων.Ιατρικών.
Δεδομένων
« #‫ﺔﺣﺻﻟﺎﺑ&ﺔﻠﺻﺗﻣﻟ3/&ﺔ5ﻣ/ﻧ5ﺟﻟ3&2ﺎﻣ/ﻠﻌﻣﻠﻟ&+/.ﺳﻣ&+*ﺎﺑﺗﻟ&%ﺎ‬
Cadre.pour.un.partage.responsable.des.données.génomiques.et.des.données.de.santé
Marco.de.actuación.para.el.uso.compartido.responsable.de.datos.genómicos.y.
relativos.a.la.salud
Framework.para.Compartilhamento.Responsável.de.Dados.Genômicos.e.Relacionados.à.
Saúde
Rahmenkonzept.für.die.den.verantwortungsvollen.Datenaustausch.genomischer.und.
gesundheitsbezogener.Daten
Framework&for&Responsible&Sharing
of&Genomic&and&Health[Related&Data
Aims&
• Foster.responsible. data.sharing;.
• Protect.and.promote.the.welfare,.rights,.and.interests. of.groups.and.
individuals.who.donate.their.data;.
• Provide.benchmarks.for.accountability;.
• Establish.a.framework.for.greater.international.data.sharing.cooperation,.
collaboration,.and.good.governance;.and,.
• Serve.as.a.dynamic.instrument..
Foundational& Principles&
• Respect.Individuals,. Families.and.Communities;.
• Advance.Research. and.Scientific.Knowledge;.
• Promote.Health,.Wellbeing.and.the.Fair.Distribution.of.Benefits;. and,
• Foster.Trust,.Integrity.and.Reciprocity.
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Framework&for&Responsible&Sharing
of&Genomic&and&Health[Related&Data
Core&Elements&for&Responsible& Data&Sharing&
• Transparency.
• Accountability.
• Engagement.
• Data.Quality.and.Security.
• Privacy,.Data.Protection.and.Confidentiality.
• RiskMBenefit. Analysis.
• Recognition.and.Attribution.
• Sustainability.
• Education.and.Training.
• Accessibility.and.Dissemination
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Policies:&Consent
• Purpose:&To.guide.international.data.sharing.in.a.way.that.
respects.autonomous.decision.making.while.promoting.the.
common.good..
• Gives.principled.and.practical.guidance.on.consent.issues:.
• Transparency
• Privacy.Safeguards
• Withdrawal
• Consent.to.access.policies.and.terms
• Sharing.of.Legacy.Data.
• Notification.and.optMout,.or.reMconsent,. for.international.data.
sharing.if.possible.and.practical..Otherwise. seek.authorization.
from.competent.authority..
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Policies:&Privacy&and&Security
• How.to.manage.privacy.and.security.risks.and.related.
expectations?
• How.to.ensure.data.use.is.consistent.with.individuals’.
expectations,.and.respects.the.rights.of.individuals?
• Consent:&Data.should.be.used.strictly.in.accordance.with.the.
Data.Donor’s.consent.for.use.and.sharing,.and/or.the.terms.
and.conditions.of.authorization.for.use.by.competent.bodies
• Proportionate&Safeguards:Data.privacy.safeguards.should.be.
proportionate.to.the.sensitivity,.nature,.and.possible.benefits,.
risks,.and.uses.of.the.Data
• Security:.organizational,&technical&and&physical&measures to.
manage.risks.to.privacy.and.data.integrity..
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Policies:&Accountability
• Sets.forth.how.Members.of.the.Global.Alliance.can.be.
governed.and.held.accountable.for.the.trust.they.engender.in.
the.responsible.sharing.of.genomic.and.clinical.data.
• Explores.mechanisms.to.promote responsible.data.sharing,.as.
well.as.to.prevent and.appropriately.sanction data.misuse..
• Possible.Inclusion:.Why.are.you.NOT.sharing,.if.the.
participant&consented to.sharing?
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Data
Benchmarking
• Standard.(variant.calling.
benchmark.toolkits)
Containers.and.Workflows
• Standard.(interoperable.GA4GH.
APIs.with.open.source)
File.Formats
• Standard.(file.formats)
Genotype2Phenotype.Association
• Standard
Metadata
• Standard.(metadata.schema)
Reference.Implementation
• Standard.(GA4GH.API)
Reference.Variation
• Standard.(graphMbased.
reference)
• Implementation
RNA.and.Gene.Expression
• Standard.(RNA.sequence.reads)
Variant.Annotation
• Standard.(data.representation)
Clinical
Clinical.Cancer.Genome.MCancer.
Data.Sharing
• White.Paper.+.Survey/paper
Clinical.Cancer.Genome.MActionable.
Cancer.Genome.Initiative
• Opinion.paper.+.Standard
eHealth.MPedigree.Consent
• Standard
eHealth.MFamily.History
• Tool.+.Standard
eHealth.MFederated.Queries
• Standard
eHealth.MCatalogue.of.Activities
• Tool
eHealth.MData.Sharing
• White.paper
Phenotype.Ontologies.MRare.
Diseases
• Use.cases
Phenotype.Ontologies.MCancer./.
Complex.Diseases
Regulatory&and&Ethics
Accountability
• Policy.(accountability)
Ageing.and.Dementia
• Policy.(data.sharing.in.vulnerable.
populations).+.Tools.
(authorization/consent)
BRCA.EthicoMLegal.and.Engagement
• Policy.(review.of.data.protection.and.
liability.issues)
• Tool.(tiered.access.model)
• Tool.(authorization/consent)
• Tool.(patient.advocacy.network)
Data.Protection.Regulation
• Communications.as.needed
Data.Sharing.Lexicon
• Tool.(Catalogue)
Ethics.Review.Equivalency
• Resource.(models..that.allow.for.
mutual.recognition.of.ethics.review)
Individual.Access
• Policy.(patent.access.to.raw.genomic.
data)
• Tool.(access.process)
MachineMReadable.Consent
• Standard.(data.use.types.in.consent.
forms)
Paediatric
• Policy.+.Standard.+.Resource
Privacy.Breach.Notification
• Resource.(review.of.breach.
notification.laws)
Registered.Access
• Tool.(definition.and.framework.for.
intermediate.tier.of.access)
Security
Cloud.Security
• Policy.(guidance.for.cloud.
security.providers)
• Implementation
Incident.Response
• Policy
Security.Infrastructure
• Policy
Software.Security
• Policy
• Implementation
Public&Population&Project&in&
Genomics&and&Society&(P3G)
www.p3g.org 20
International&Policy&
interoperability&and&data&
Access&Clearinghouse&(IPAC)
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Data/Sample&
Collection&– ELSI&
Interoperability
A one[stop&service&for&researchers
ELSI&Clauses/&
Agreements
Database
DACO&– Review&of&Data&
and&Samples&Access&
Request/&Authorization&
and&Compliance
Validate&whether&
studies&can&work&
together&(e.g.&
consent;&
confidentiality;& etc.);&
If&not,&create&tools.
International&Policy&
interoperability&and&data&
Access&Clearinghouse&(IPAC)
Authorize&studies& to&
access&controlled&
databases& (e.g.&ethics&
approval/waiver;&
institutional& sign&off;&
etc.).&
Open&access&
resource&allowing&
users&to&search&and&
select&models&of&
clauses&that&best&
suit&their&needs.
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Consent&Tools&for&GA4GH
A.Legacy.Consent.and.International.
Data.Sharing.
B.Clauses.for.International.Data.
Sharing.
C.Generic.International.Data.Sharing.
Consent.Form.(Prospective).
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A.&Legacy&Consent&
Does.original.consent.cover.new.projects?.Considerations:
1. Was.international.data.sharing.foreseen?.
2. Was.access.to.the.medical.record.foreseen?.
3. Was.genetic/genomic.research.foreseen?.
4. Was.potential.commercialization.foreseen?
Int’l.sharing.of.Legacy.Collections.may.require:
• Re[consent,.or
• Re[contact with.notification.and.optMout,..or
• Waiver from.competent.body.
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A.&Legacy&Consent&(cont’d)
• Research.Ethics.Board.or.comparable.independent.bodies.
must.have.the.authority.to.waive.consent.for.research.
use(s).of.data.and.samples.already.collected.when:
• The.research.is.minimal.risk;
• The.data.and.samples.are.necessary.for.research;
• Researchers.take.appropriate.measures.to.protect.
privacy.and.confidentiality;.and,
• It.is.impossible.or.impracticable.to.obtain.consent.
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B.&Clauses&for&Int`l&Data&
Sharing
1. Preamble:.This.project.is.guided.by.the.
Framework
2. Participate.in.International.Data.Sharing.
Research
3. Privacy.and.Security.Safeguards
4. Storage.(Duration)
5. Withdrawal
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C.&Generic&International&
Data&Sharing&Consent&Form
• http://genomicsandhealth.org/files/public/GA%20P
3GMIPAC%20Consent%20Tools.pdf
• A oneMsize fits all is not possible given biobank
diversity
• Broad Consent; Specific; and Dynamic Consent
• Governance: degree and scope should be
proportionate to the size and purposes of the
biobank.
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