GENETICS - .GLOBAL...The 100,000 Genomes Project •The 100,000 Genomes Project is a research...

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GENETICS The science of inherited disease

Transcript of GENETICS - .GLOBAL...The 100,000 Genomes Project •The 100,000 Genomes Project is a research...

Page 1: GENETICS - .GLOBAL...The 100,000 Genomes Project •The 100,000 Genomes Project is a research project, a clinical service and an NHS transformation project in one •100,000 whole

GENETICSThescienceofinheriteddisease

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The100,000GenomesProjectWhat’sagenome?

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HumanGenomeProjectFirstdraftsequence2000

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• Theythoughtthey’dfindaminimumof100,000genes

• Theyfound20,000• That’sthesamenumberasastarfish

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HowmuchofyourDNAisgenes?

•80%

•50%

•20%

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• RestoftheDNAusedtobe‘junk’,wasn’tthoughttobeimportant.

• Nowknowit’simportantforregulation,switchinggenesonandoffattherighttime.

• Stillmuchmoretolearnaboutwhatitalldoes.

Genes:lessthan5%ofDNA

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Genomics

Thescienceof

•all theDNAinthegenome•Andhowit’ssequenced,analysedandinterpreted

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Howdifferentareourgenomes?•Moredifferencebetweenindividualsthanbetweendifferentraces

•Weare99.8%identical•But0.2%isstill3milliondifferences.Itswhatmakesyouyou

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Thefirsthumangenomesequence

• 26th June 2000 - Cost $3.2 billion and took 13 years

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Costofsequencing

Today it takes 24 hours costs less than $1000

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The100,000GenomesProject

1.TobringbenefittoNHS

patients

2.Tocreateanethicalandtransparentprogrammebasedonconsent

3.Toenablenewscientificdiscoveryand

medicalinsights

4.Tokickstartthe

developmentofaUKgenomics

industry

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The100,000GenomesProject

• The100,000GenomesProjectisaresearchproject,aclinicalserviceandanNHStransformationprojectinone

• 100,000wholegenomesfrom70,000patientsandtheirfamilieswithrarediseaseorcancer,completionby2018

• Basedonconsent• Recruitmentthrough13NHSGenomicMedicineCentres

………inanutshell

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The100,000GenomesProject

• Sequencedatalinkedtohealthdatatodiagnose• Sequencedata,healthdataandlifelongmedicalrecorddataputintodatasetavailableforresearchincludingaccessbydrugcompanies

• NHSwillbefirsthealthsystemintheworldtoembedgenomicmedicineinmainstreamhealthcare

• Atthecuttingedgeofscienceandvery,veryhard.

………inanutshell

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The100,000GenomesProject

Thebeginningofsomethingamazing

PersonalisedMedicine

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1. Prediction andprevention ofdisease

2. Moreprecise diagnosis3. Targetedandpersonalised

interventions4. Amoreparticipatory rolefor

patients

New era of personalised medicine

THE 4 Ps:

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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

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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

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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

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AParticipatoryroleforpatients

• Wellnessratherthanillness• Approachwithcaution

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Ethics

• Wholegenomesequencingatbirth• Whataboutbeforebirth?• Whatdowewanttoknow?• WhatdowewantNOTtoknow?• Howsuredowehavetobe?• Over-diagnosis?

Wherewillthistechnologytakeus?

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Whatthefutureisnot

•Genomicsingeneticsdepartments

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Thefuture

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Mouse Genomes Project Summary June 2010

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Genomics and personalised medicine · •Tom – Deputy Chief Scientist & Director of Public Health, 100,000 Genomes Project •100,000 Genomes Project •Sequencing 100,000 genomes

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The 100,000 Genomes Project · Genomics and cancer therapy Mrs K, 62 year old keen golfer, rapid deterioration, metastatic lung cancer Cooked/entertained Xmas 2nd opinion as “Unfit

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100,000 Genomes Project: opportunities and …... 100,000 Genomes Project: opportunities and challenges NHS-HE forum, 26th November 2014 Dr Clare Turnbull MA MSc PhD MRCP Clinical

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Our 2018/19 Annual Report - NHS England · Accountability Report ... 100,000 Genomes Project. ... existing service risks breaking the system. We have to face the facts: waiting times

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Springer - Analysis of 100,000 human cancer genomes reveals the landscape … · 2017. 8. 29. · RESEARCH Open Access Analysis of 100,000 human cancer genomes reveals the landscape

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The 100,000 Genomes Project Protocol...About this document About this document This document sets out the protocol for the development, delivery, and operation of the 100,000 Genomes

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The Genomics England 100,000 Genomes Project · Confidential: For Review Only The Genomics England 100,000 Genomes Project Clare Turnbull1-4, Richard Scott1,5, Louise Jones1,6, Ellen

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Genomes to Life Project Quarterly Report October 2003prod.sandia.gov/techlib/access-control.cgi/2004/040038.pdf · Genomes to Life Project Quarterly Report ... Genomes to Life Project

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