genetics - .global...the 100,000 genomes project •the 100,000 genomes project is a research...
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GENETICSThescienceofinheriteddisease
The100,000GenomesProjectWhat’sagenome?
HumanGenomeProjectFirstdraftsequence2000
• Theythoughtthey’dfindaminimumof100,000genes
• Theyfound20,000• That’sthesamenumberasastarfish
HowmuchofyourDNAisgenes?
•80%
•50%
•20%
• RestoftheDNAusedtobe‘junk’,wasn’tthoughttobeimportant.
• Nowknowit’simportantforregulation,switchinggenesonandoffattherighttime.
• Stillmuchmoretolearnaboutwhatitalldoes.
Genes:lessthan5%ofDNA
Genomics
Thescienceof
•all theDNAinthegenome•Andhowit’ssequenced,analysedandinterpreted
Howdifferentareourgenomes?•Moredifferencebetweenindividualsthanbetweendifferentraces
•Weare99.8%identical•But0.2%isstill3milliondifferences.Itswhatmakesyouyou
Thefirsthumangenomesequence
• 26th June 2000 - Cost $3.2 billion and took 13 years
Costofsequencing
Today it takes 24 hours costs less than $1000
The100,000GenomesProject
1.TobringbenefittoNHS
patients
2.Tocreateanethicalandtransparentprogrammebasedonconsent
3.Toenablenewscientificdiscoveryand
medicalinsights
4.Tokickstartthe
developmentofaUKgenomics
industry
The100,000GenomesProject
• The100,000GenomesProjectisaresearchproject,aclinicalserviceandanNHStransformationprojectinone
• 100,000wholegenomesfrom70,000patientsandtheirfamilieswithrarediseaseorcancer,completionby2018
• Basedonconsent• Recruitmentthrough13NHSGenomicMedicineCentres
………inanutshell
The100,000GenomesProject
• Sequencedatalinkedtohealthdatatodiagnose• Sequencedata,healthdataandlifelongmedicalrecorddataputintodatasetavailableforresearchincludingaccessbydrugcompanies
• NHSwillbefirsthealthsystemintheworldtoembedgenomicmedicineinmainstreamhealthcare
• Atthecuttingedgeofscienceandvery,veryhard.
………inanutshell
The100,000GenomesProject
Thebeginningofsomethingamazing
PersonalisedMedicine
1. Prediction andprevention ofdisease
2. Moreprecise diagnosis3. Targetedandpersonalised
interventions4. Amoreparticipatory rolefor
patients
New era of personalised medicine
THE 4 Ps:
Thefuture- startswithbeauty
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Prediction&Prevention
• Ofthe120,000peopleintheUKwithFHonly15%–lessthan1in5,knowtheyhavethecondition
• Atleast28,000childrenintheUKhaveFH butonly600oftheseareknown
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FamilialHypercholesterolaemia (FH)
16June2017
Image courtesy of Health Education England
Fivebabies:allthesamesymptoms
KCNJ11 p.V59MPermanentdiabetesanddevelopmental
delay
FOXP3 c.227delTIPEXsyndrome
EIF2AK3 p.E371*WolcottRallison
Syndrome
STAT3p.T716MMulti-organautoimmune
disease
GATA6 c.1448-1455delSyndromic
pancreaticagenesis
BoneMarrowTransplant
LiverTransplant
Sulphonylureatherapy
Insulinandexocrine
supplements
?STAT3inhibitor
MorePreciseDiagnosisTherightdiagnosisfirsttime
Therighttreatmentfirsttime
• 8000NHSbedsadayoccupiedbypeoplewhohavehadadversedrugevents(6.5%oftotalbeds)
• 70%ofthewaythatdrugsaremetabolisedisthroughthecytochromep450pathway
• Manydrugsaffectedbygeneticvariantse.g.codeine,abacavir,warfarin
• Rightantibioticsfirsttime
Pharmacogenomics
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Personalised&targeted
• Highlytargeted• PanelsorWGS?Juryisout.• Expensivedrugsonlyforthoseforwhomitwillwork
• Ifresistancedevelops,re-sequence
• Abaselineifcancerreturns• Providesdatasetforfutureclinicaltrials
Cancercare
AParticipatoryroleforpatients
• Wellnessratherthanillness• Approachwithcaution
Ethics
• Wholegenomesequencingatbirth• Whataboutbeforebirth?• Whatdowewanttoknow?• WhatdowewantNOTtoknow?• Howsuredowehavetobe?• Over-diagnosis?
Wherewillthistechnologytakeus?
Whatthefutureisnot
•Genomicsingeneticsdepartments
Thefuture
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