Genomics Medicine: Managing your own health Mostafa Ronaghi SVP & CTO, Illumina Barcelona June 2013 2012 Illumina, Inc. All rights reserved. Illumina, illuminadx, BaseSpace, BeadArray, BeadXpress, cbot, CSPro, DASL, DesignStudio, Eco, GAIIx, Genetic Energy, Genome Analyzer, GenomeStudio, GoldenGate, HiScan, HiSeq, Infinium, iselect, MiSeq, Nextera, Sentrix, SeqMonitor, Solexa, TruSeq, VeraCode, the pumpkin orange color, and the Genetic Energy streaming bases design are trademarks or registered trademarks of Illumina, Inc. All other brands and names contained herein are the property of their respective owners. PN 15023168 Outline - Market overview: now and future - What is genomic medicine? - How is genomic medicine being implemented? - A personal story - Potential opportunities 2 1
The science of GENOMICS is at the beginning of a NEW era of innovation 3 Explosion in amounts of genetic data 4 2
McKinsey Report on Disruptive Technologies The potential economic impact of next-generation gene sequencing in the applications that we have sized in health care, agriculture, and the production of substances such as biofuels could be $700 billion to $1.6 trillion a year by 2025 ~80% of this potential value would be realized through Genomic Medicine 5 How much does it cost to sequence a genome? 2006 $ 10 Million Cost/Genome (30X coverage) 2007 $ 1 Million 2008 $ 100 K 2009 $ 20 K 2010 $ 10K 2013 $ 3000 6 3
Sequencing Cost Reduction Out Pacing Moore s Law 100,000 10,000 Moore s law 1,000 100 10 Sequencing cost 1 1999 2000 2001 2002 2003 2004 2005 2006 2007 2008 2009 2010 7 Cost of sequencing a genome could drop to ~$100 within the next decade 8 4
What is accelerating this cost reduction? 9 Genomic Medicine: potential drivers Drivers: Rise in global population Aged population Rise in cost of healthcare 10 5
MegaTrends Population is increasing at a decreasing rate 11 MegaTrends The developed world continues to age 15% of population will be over 60 years old by 2025 1967 1980 1995 2013 12 6
MegaTrends Healthcare is different PC Cost CT Scan 32% $2.820-54% $1.670.072 $2.200.000 $1.299 1974 2004 1974 2004 Altair 8800 Apple imac GS 13 MegaTrends US Healthcare spending is inefficient Here s one reason 14 7
Economical impact: $700 billion to $1.6 trillion per year in 2025 McKinsey s report Estimated scope in 2025 Estimated potential reach in 2025 Potential value gain Estimated deaths from relevant diseases - Cancer: 12 million - Cardiovascular: 23 million - Type II Diabetes: 4 million Potential with access to relevant treatment - Cancer: 20-40% - Cardiovascular: 15-40% - Type II Diabetes: 20-40% Expected life expectancy - Cancer: 20-40% - Cardiovascular: 15-40% - Type II Diabetes: 20-40% 160 million Newborns Access to potential genetic screening - Developed world: 100% - Less-developed world: 30-50% Value of potential screening - Developed world: $1000 - Less-developed world $200 15 We have to reduce the cost of health care? Otherwise we will go broke 16 8
Outline - Market overview: now and future - What is genomic medicine? - How is genomic medicine being implemented? - A personal story - Potential opportunities 17 What is Genomic Medicine? Is based on understanding the impact of our entire genome and environmental factors on disease and health Emerging as an important part of: Diagnostics Prognostics Risk factor management Treatment in clinical practice 18 9
How do we sequence a genome? ~40 trillion cells in human body A genome consists of 6.4 billion nucleotides (3.2 B from each parent) Genome is chopped to tens of millions fragments All fragments are then sequenced (~30X coverage) All fragments are assembled to construct a genome 19 A journey towards finishing the first human genome 20 10
Completion of the first Human genome in 2003 21 Gene testing has demonstrated cost saving 22 11
PKU Screening All published studies show that PKU screening and treatment represent a net direct cost savings to society Phenylketonuria: Screening and Management NIH Consensus Statement Online 2000 23 Multigene Assay Predicts Recurrence of Tamoxifen-Treated, Node-Negative Breast Cancer Gene expression analysis was combined with an algorithm for calculating risk for distant recurrence of breast cancer. ---- 95% confidence interval curves Recurrence score for individual patients Source: Paik, et al., N Engl J Med, December 2004 24 12
25 Why do we need to sequence whole Genome? 26 13
Single gene testing not comprehensive enough for complex diseases 2009 Illumina, Inc. All rights reserved. Illumina, illuminadx, Solexa, Making Sense Out of Life, Oligator, Sentrix, GoldenGate, GoldenGate Indexing, DASL, BeadArray, Array of Arrays, Infinium, BeadXpress, VeraCode, IntelliHyb, iselect, CSPro, and GenomeStudio are registered trademarks or trademarks of Illumina, Inc. All other brands and names contained herein are the property of their respective owners. Full Genome sequence may turn on all lights 2009 Illumina, Inc. All rights reserved. Illumina, illuminadx, Solexa, Making Sense Out of Life, Oligator, Sentrix, GoldenGate, GoldenGate Indexing, DASL, BeadArray, Array of Arrays, Infinium, BeadXpress, VeraCode, IntelliHyb, iselect, CSPro, and GenomeStudio are registered trademarks or trademarks of Illumina, Inc. All other brands and names contained herein are the property of their respective owners. 14
Outline - Market overview: now and future - What is genomic medicine? - How is genomic medicine being implemented? - A personal story - Potential opportunities 29 Cancer diagnostics Determine if a patient is a carrier of the BRCA1 or BRCA2 gene mutations provide individualized information on response to certain types of therapy provide individualized information on response to certain types of therapy provide individualized information on response to certain types of therapy using a gene-panel Provides information that associates biomarker status to agents with potential clinical benefit or potential lack of clinical benefit. 30 15
Cancer care management Immuno Repertoire Sequencing Enables physicians to utilize sequencing-based minimal residual disease (MRD) detection as a clinical decision-making tool Faster, More accurate, Cheaper, Safer and more pleasant to the patients when compared to CT-scan 31 Carrier Screening Babies with genetic disease are often born to healthy parents A comprehensive test for 100+ genetic diseases Screens for more than 20 genetic disorders Screens for more than 600 genetic disorders Also provide full genome sequencing 32 16
Prenatal testing A next-generation sequencing prenatal test Has replaced more than 50% of Amniocentesis test Faster, More accurate, Cheaper, Safer and more pleasant to the patients when compared to amniocentesis test 33 Genomics in Wellness Genophen develops, translates and integrates the latest developments in healthcare and genomics to help you guide decisions about your health 34 A Holistic view of human health 17
Outline - Market overview: now and future - What is genomic medicine? - How is genomic medicine being implemented? - A personal story - Potential opportunities 35 Bone fracture Patient A Have had 11 fractures Bone density: 20% below average population 36 18
Bone fracture 37 My Genome Ships blood Sends raw data Trained MD in genetics Interpret genome data Make recommendation to patient Performs genome sequencing in their CLIA lab Discovered: Vitamin D uptake low (Fok1 gene) lower bone density 1000 mg/day in the last four months did increase the bone density 38 19
Heart attack - Mother died from heart attack at the age of 47 - Cholesterol on the boarder line - 3 years of diet and exercise did not help - Doctor recommended statin 10 mg/day - After 3 years recommended 20 mg/day - Sign of muscle pain appeared 39 My Genome Statin: different efficiency on different population Decreased sensitivity for Simvastatin (Zocor) increased sensitivity for Rosuvastatin (Crestor) Action: Replaced Zocor by Crestor and reduced the dosage by 4 folds My Cholesterol is lower than before and no more side effect Using Genophen for further investigation 40 20
Outline - Market overview: now and future - What is genomic medicine? - How is genomic medicine being implemented? - A personal story - Potential opportunities 41 Genomics: Barriers and Enablers Enablers - ~7000 disease genes discovered so far - Fast and cheap sequencing will enable discovery of these genes Barriers - There is still much that scientists do not understand about genomics - Ownership of data could be an issue - Interpretation of genome is still challenging - GMO food regulation needs to be defined 42 21
Sequencing Alters the Landscape A Few Predictions Consumer Agriculture Cancer BioPharm Genetics Forensics Infectious Disease Research Human Health Reproductive Health 43 Sequencing Alters the Landscape A Few Predictions Time Frame (years) 0 10 1. Sequencing begins to directly save lives 0 10 2. Radical acceleration in rate of genomic discovery/insights 0 10 3. Tumor samples routinely sequenced and become Standard of Care 0 10 4. Nations begin sequencing their populations 0 10 5. Complete human sequence under $1000 Consumer Agriculture Cancer 0 10 6. Infants routinely sequenced at birth BioPharm Genetics 0 10 7. Cancer succumbs to new technology tools Forensics Infectious Disease Research Human Health Reproductive Health 44 22
Sequencing Alters the Landscape A few market oppotunities Agricultur e BioPha rm Consu mer Canc er Gen etics Forensic s Research Human Health Infec tious Dise ase Reproduc tive Health Consumer: ancestry, vitamin dosage personalization, match making Diagnostics: cancer, diabetes, cardiovascular, and a lot more Agriculture: high value chemicals, biofuel, Animal food and GMO for efficiency 45 Gene modified food McKinsey s report The total area planted in GM crops has risen from 1.7 million hectares in 1996 to more than 170 million hectares in 2012, and for the first time farmers in developing economies planted more hectares of GM crops than did farmers in advanced countries. Gene Modified Food will become the dominant food type in the stores - safer than pesticide treated food - cheaper 46 23
the sequence of the human DNA is the reality of the species, and everything that happens in the world depends upon those sequences. Renato Dulbecco, Nobel Laureate 47 Thank You 48 24