Featured Keynote | Geo-nomics: Global Scale DNA Sequencing
•
2 recomendaciones•1,151 vistas
The rapidly falling cost of genome sequencing now makes it possible to obtain the genome sequences of large populations. The data collected from this infrastructure will enable the development of new therapies. Longer term, the goal is for an entire country to be sequenced and for the resulting data to be embedded in the national healthcare system. In this talk, Alex Dickinson, SVP for Strategic Initiatives at Illumina, will discuss how Illumina's BaseSpace and AWS are enabling this journey by driving innovations in genome sequencing for data collection, and cloud computing for data analysis.
Recomendados
Más contenido relacionado
Destacado
Destacado (13)
Similar a Featured Keynote | Geo-nomics: Global Scale DNA Sequencing
Similar a Featured Keynote | Geo-nomics: Global Scale DNA Sequencing (20)
Más de Amazon Web Services
Más de Amazon Web Services (20)
Último
Último (20)
Featured Keynote | Geo-nomics: Global Scale DNA Sequencing
- 1. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y Geo-nomics: Global Scale DNA Sequencing Alex Dickinson SVP Strategic Initiatives
- 2. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y • Founded in1998 (IPO 2000) • 2014: 1.08B revenue, 30% growth • Headquarters in San Diego, CA – Manufacture in California & Singapore • Product Portfolio – > 50 major product launches – >8,300 publications on our technology • 90% of world’s sequence data is generated by Illumina instruments • Research ➡️ Clinical ILLUMINA
- 3. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y GENOME SEQUENCING
- 4. Life Sciences ~$5B New and Emerging Oncology ~$12BReproductive and Genetic Health ~$2B ~$1B ILLUMINA’S $20B ($40B) OPPORTUNITY
- 5. 10,000X 1000X 100X 10X 2007 201420092008 2010 2011 2012 2013 $10,000,000 Genome $1,000 Genome
- 6. $1,000 per human genome 18,000 genomes/year THE $1,000 GENOME: ILLUMINA HISEQ XTEN
- 8. “Do diagnostics, and the research comes for free” Prof. John Mattick, Garvan Institute, Sydney
- 9. 0 500,000 1,000,000 1,500,000 2,000,000 2014 2015 2016 2017 Genomes
- 10. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y GEONOMICS VISION The integration of genomics into national healthcare systems to enable personalize delivery of healthcare. – Patients experience improved health – Healthcare systems achieve lower costs – New national economic opportunities
- 11. 0 10 20 30 40 50 1990 2002 2020 Cardiovascular diseases Cancer Respiratory diseases (Asthma, COPD) Diabetes Other “non-communicable” diseases MillionsofDeaths
- 15. National Motivations 1. Better health care at lower cost 2. Desire for economic development 3. Fear of “orphaned ethnicity” 4. International competition
- 16. National success factors 1. Genomics-enabling legislative framework 2. Established genomics expertise 3. Single payer healthcare system 4. National Electronic Medical Record (NEMR) 5. Access to capital
- 17. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y GEONOMICS PHASES 1. Establish a Reference Genome that facilitates a baseline ‘healthy individual’ for population studies 2. Population studies to discover population-specific variants that enable personalized genomic applications 3. Scaling to enable one-time genetic testing of the entire population and secure storage of the resulting data 4. Deployment of genomic applications into the national healthcare system for use by clinicians and consumers
- 18. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y Financing Program Management Storage + Compute + Networking + Privacy & Security Sequencing Operations Analytics Reporting / Dissemination Systems Integration REQUIREDCAPABILITIES Pharmacogenomics Risk-adjustedHealthScreening CarrierTesting RareDiseaseDiagnosis NGS-informedcancerCare ChronicDiseasemanagement Wellness/PerformanceTraining PUBLIC HEALTH APPLICATIONS
- 19. Newborn (germline) Liquid Biopsy (cancer screening) Tumor/Normal (cancer treatment) Liquid Biopsy (recurrence monitoring) NIPT (prenatal screening) Patient Electronic Medical Record Patient Genome Database Age EMR Integration
- 20. C O M P A N Y C O N F I D E N T I A L – I N T E R N A L U S E O N L Y Genomics England 100,000 Genome Project World’s First National Scale Genome Sequencing Effort Driven directly by the Prime Minister £300M investment 100,000 whole human genomes by 2017 Cancer and rare disease 40K patients directly impacted NHS goal to tightly-couple genomics to healthcare All sequencing on Illumina Xten instruments
- 21. Market-based solutions AnswerSample Prep Sequence
- 22. SPAdes Novo Align Advaita DNA Star Pedant AB SCIEX AB SCIEX AB SCIEX DeepCheck HIV,HBV,HCV SWATH Atlas n of One My FLQ TUTE Lo Feq eGB Genomatix Genome Profiler Melanoma Profiler OncoMD GeneTalk PathGEN Dx 3rd Party Apps 16S Metagenomics TopHat Alignment Cufflinks Assembly & DE RNA Express Variant Studio BWA Enrichment Isaac Enrichment BWA WGS Isaac WGS Broad IGV TruSeq Amplicon Amplicon DS Tumor Normal Long Read Assembly Long Read Phasing Illumina Core Apps Prokka MetaPhlAn BaseSpace Labs Apps FastQC Kraken Metagenomics NextBio Annotates VCAT Fastq Toolkit Velvet Assembly Picard Space SRA Importer NextBio Transporter SRST2 Cosmos ID EDGC
- 23. Runs Uploaded to BaseSpace Runs 3,000 Instruments >125,000 Customer runs uploaded >4,500 Active users >50 Apps 39,000 App launches
- 24. Thank You
Notas del editor
- From our first 10K (year ended 12/31/2000) 13 issued U.S. patents 55 pending U.S. applications From our most recent 10K 235 issued U.S. patents 173 pending U.S. applications
- This blue line is Moore’s Law – over this period chips got 10 times cheaper and that’s put smartphones across the planet. But Moore’s Law is nothing compared with Flatley’s Law which tells us how fast genome sequencing is getting cheaper. In 2007 it cost 10 millions dollars to do a single genome. And now it costs 10,000 times less! So if Moore’s Law can drive smartphone across the planet, Flatley’s Law can easily do the same for genomics – and probably faster.
- First, we are only going to sell these for factory installations, meaning any buyer needs to purchase a minimum of 10 systems. The actual product we will be selling is called the HiSeq X ten. The X ten price is $10M with incremental systems available for $1M each. The only application permitted on the X ten is whole human genome sequencing We expect to be able to supply roughly 5 of these systems during 2014 as we ramp up the supply chain for the key components including the new high performance cameras and patterned flow cells…. But have already sold 3 to Macrogen, Garvan and the Broad
- David cameron’s son Ivan died of an inherited disease when he was 6 years old.
- Only about half of our variants in genes- and at one point, we thought that was all that mattered. Within genes, we know that these changes result in changes in the genes functions, resulting in things that make us different, like hair color, nose shape, etc. 2.8 million are found in all populations in the world
- My family’s experience was a single event in a vast shift in healthcare as infectious diseases were beaten back worldwide, leaving chronic diseases like cancer and stroke as our dominant health challenges. I’m guessing that everyone in the room today has been touched by these diseases. We have a lot of control in modern life, but one of these diagnosis brings fear and uncertainty, making a mockery of our sense of control. Imagine a how your life might have been completely different if you, a parent, a friend, or a child had been able to avoid one of these diseases.
- But in an extraordinary coming together of science, medicine and public health a wide range of vaccines were invented and administered to millions, so by the end of the 20th century the fatality rate from these diseases has been reduced by 99.9% Vaccination was the most effective medical idea of the 20th century.
- So what we’re going to do is give doctors an entirely new instrument: a molecular stethoscope that let’s the view your genomics blueprint to better understand your biology. Here are some of the thing it will let her do: Design a drug, just for you. Check for cancer with a simple blood test. Eliminate inherited disease from your family. Counsel on how a newborn will avoid diabetes. Billions of lives can be improved, and trillions of dollars can be saved.
- One of my favorite examples is the google streetview car. These cars drive around all the roads on the planet taking photos - digitizing the world’s geography. The data is uploaded to google’s cloud where it is used to deliver services like directions and virtual tours You can think of a DNA sequencer as being just like the streetview car. It takes real world DNA sample from a person, and converts it into data that is sent to the cloud where we can use it to deliver information to a doctor sitting with a patient. So we know cloud computing works on massive scale, how are we doing on DNA sequencing?
- Only about half of our variants in genes- and at one point, we thought that was all that mattered. Within genes, we know that these changes result in changes in the genes functions, resulting in things that make us different, like hair color, nose shape, etc. 2.8 million are found in all populations in the world
- This blue line is Moore’s Law – over this period chips got 10 times cheaper and that’s put smartphones across the planet. But Moore’s Law is nothing compared with Flatley’s Law which tells us how fast genome sequencing is getting cheaper. In 2007 it cost 10 millions dollars to do a single genome. And now it costs 10,000 times less! So if Moore’s Law can drive smartphone across the planet, Flatley’s Law can easily do the same for genomics – and probably faster.
- David cameron’s son Ivan died of an inherited disease when he was 6 years old.
- Technology innovation in our core portfolio extends beyond the sequencers, to include sample prep technologies and automation as well as innovative approaches to data analysis and interpretation. The strength or our sample to answer technology base, which has been extended this week with new platforms, is unparalleled. This will enable us to rapidly assemble and deploy market-based solutions with the business units being able to “pick” components from the core technology base and quickly assemble and integrate market-based solutions.
- BaseSpace is already the world’s largest genomics cloud and is undergoing tremendous growth Over the last year, 1,000 new sequencers have connected to BaseSpace bringing the total to over 3,000 instruments, and those machines have uploaded over 125K runs of customer data 40 new or improved apps were added to our app store in 2014, including the first proteomic apps from our partnership with ABSciex,,,, the first apps that that leverage our NextBio knowledge-base to interpret data, and a new category of apps called BaseSpace labs contributed by Illumina scientists With this increased app diversity, the number of users doing analysis in the cloud has exploded. Every month over 4,500 distinct users setup and monitor runs, store and share data, and now about 30% of them also perform bioinformatics analysis in the cloud