Bowers-WMA-Copenhagen-FINAL

Genomics, Research.and.Healthcare
Sarion.Bowers
Research.Policy.Advisor
We.use.genome.sequences.to.advance.understanding.
of.the.biology.of.humans.and.pathogens.in.order.to.
improve.human.health.
Mission
Image:.Magnus.Manske
• At.the.centre.of.a.collaborative.network.of.science
• LargeFscale.science.underpinned.by.highFthroughput.data.
production.platforms.and.large.IT.infrastructure
• Pushing.scientific.boundaries
• Leadership.in.internationally.collaborative.research.enterprises..
• Consideration.of.impact.on.human.health.globally
• Data.organisation,.presentation.and.open.release
Sanger.profile
Machines
• Pacific.Biosciences.RS.II 1
• MiSeq 5
• HiSeq 2000.V3 17
• HiSeq 2500.V4 10
• XTen system. 10
• Total 43
DNA.pipelines
Scientific.Operations
Scientific.Operations
DNA.pipelines
0
100
200
300
400
500
600
700
800
900
1000
2008 2009 2010 2011 2012 2013 2014 2015 2016
Sequencing.Output.(Terabases)
Scientific.Operations
Data.Centre:.storage
PB
10.PB
20.PB
30.PB
40.PB
2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016
• One.of.the.largest.Life.Sciences.IT.
infrastructures.in.the.world
• 30.petabytes.(1015).storage
• 17,000.CPU.cores
• Shared.with.EBI
Scientific.Operations
Data.Centre
What.data.are.we.gathering?
What.data.are.we.gathering?
What.data.are.we.gathering?
What.data.are.we.gathering?
What.data.are.we.gathering?
2010 2011 2012 2013 2014
Visits Visits Visits Visits Visits
3,035,740 3,312,604 3,539,842 3,988,073 4,189,898
234,673 317,157 413,003 467,536 588,281
77,987 104,227 113,402 143,449 148,025
Sharing.our.data
Ensembl
COSMIC
Decipher
• Centre.for.Therapeutic.Target.Validation
• Deciphering.Developmental.Disorders
• Cancer.Cell.Line.Drug.Screen
• Centre.for.Genomic.Pathogen.Surveillance
Translation
• >100,000.complete.or.partial.human.genome.sequences. from.healthy.
individuals.or.with.disease
• Genome.sequences. of.30,000.malaria.parasites.and.20,000.mosquitoes
• Genome.sequences. of.>100,000.bacteria,.viruses. and.parasites
• Complete.or.partial.genome,.transcriptome.or.methylome sequences. of.
10,000sF100,000s.human.cells
• Mutant.mouse.lines.for.500F1000.genes..
• 1000F2000.iPS cell.lines
• 1000F2000.cancer.organoids
• 1000s.of.screens. for.phenotypic.consequences. of.mutations,.drugs.and.
biological.challenges
Scientific.strategy
By.2020.we.will.have:
Governing.our.work
• Balancing.the.needs. of.research.
with.the.care.of.research.
participants
Is.this.Research.or.is.this.Healthcare?.
• Deciphering.Developmental.
Disorders
• Sequenced.the.genomes.of.
12,600.children.and.their.families
• Diagnoses.are.returned.to.
families
• Sequences.are.deposited.in.
DECIPHER
The.right.to.share.your.own.data
• Limiting.consent.options.versus.
individual.freedom
Understanding.limitations
Image:.Wellcome.Collection
• Withdrawal.of.consent.
for.data.sharing.is.not.
straightforward
• Not.the.same.as.
consent.for.
participating.in.
research
Ethos.of.Open.Access
• The.Sanger.Institute.founded.on.
the.principle.that.the.Human.
Genome.belongs.to.all
Consent
• Is.optFout.becoming.a proxy.
for.consent?
• Research(and(healthcare( are(not(always(
distinguishable
• There(is(a(need(to(recognise(individuals’( autonomy(
and(rights
• Once(shared(data(cannot(be(unshared
• Science(is(a(common(good(and(open(access(is(to(be(
commended
• How(do(we(avoid(big(data(using(opt