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Personalized Medicine & Companion Diagnostic Market Q2 2013

Published: Nov 2013 | Published By: Kelly Scientific Publications

Product Synopsis

Personalized Medicine and Companion Diagnostic Market- A Strategic Analysis of Industry Trends, Technologies, Participants, and Environment” provides you with a comprehensive account of the market size, segmentation, key players, SWOT analysis, influential technologies, and business and economic environments. The report is supported by 261 tables & figures over 205 pages. The personalized medicine (global) market is presented as follows:
 
  • By Company (e.g., 23andMe, AFFYMETRIX, ATOSSA GENETICS, NODALITY, CELERA, MYRIAD)
  • By Geography (US, UK, EU)
  • By Segment (Targeted therapeutics, Esoteric tests, Esoteric lab services)
  • By Sub-market (Companion diagnostics & therapeutic, nutrition & wellness, medical technology, pharmacogenomics, consumer genomics)
 
A wealth of financial data & business strategy information is provided including:
 
  • Up-to-date company financials, sales & revenue figures
  • Business Model Strategies for Diagnostic, Pharmaceutical and Biotechnology Companies
  • Business Model Strategies for Providers. Provider Systems and Academic Medical Centres
  • Business Model Strategies for Payers & Governments
  • Private and Public Funding and Personalized Medicine Reimbursement
  • Revisions to Current Payment Systems and intellectual property
  • How to Gain Market Penetration in the EU
  • Cost-effectiveness and Business Value of Personalized Medicine
  • Consumer genomics and POC market
  • Therapeutics and Companion Diagnostics (e.g., BRAC Analysis, Oncotype Dx , KRAS Mutations)
  • Comprehensive account of company product portfolios & kits
 
SWOT, Economic & Regulatory Environment specifics include:
 
  • Key strengths, weaknesses and threats influencing leading player position within the market
  • Technologies driving the market (e.g., New-Generation Sequencing Technologies, Ultra-High Throughput Sequencing)
  • Top fastest growing market segments and emerging opportunities
  • Top pharmaceutical companies within the IPM by market share and revenue
  • Comprehensive product portfolios, R&D activity and pipeline therapeutics
  • M&A activity and future strategies of top personalized medicine pharmacos
  • Personalized Medicine Regulation (UK, Germany, France, Spain, Italy)
  • CE-marked Personalized Medicine/Diagnostic Tests
  • FDA Advances in Personalized Medicine Regulation
 
This report highlights a number of significant Indian pharmacos and gives details of their operations, products, financials and business strategy.
 
  • 23andMe
  • Affymetrix
  • Astex Pharmaceuticals
  • Atossa Genetics
  • CuraGen
  • Celera Corporation (Quest Diagnostics)
  • Celldex Therapeutics
  • deCode Genetics (Amgen)
  • Illumina
  • Genelex
  • Myriad
  • Nodality
  • Qiagen
 
What you will gain:
 
  • An in-depth understanding of the global personalized medicine market and it’s environment
  • Current market facts, figures and product lines of key players in the industry
  • Emerging trends in key markets such as the US, UK, Germany and France
  • Knowledge of how the personalized medicine market will integrate into the global healthcare market
  • Technical insights into new generation sequencing technologies and ultra-high throughput sequencing
  • Updates on bioinformatics, high throughput systems, genetic analysis kits, companion diagnostics and future technologies
  • FDA approved pharmacogenetic tests and recognized biomarkers
  • Information on key government and regulatory policies
  • Strategies on how to adapt and restructure current business models to this industry
  
This report tackles key concerns to the personalized medicine market such as:
 
  • Lack of regulatory policy and legislation in the US and Europe
  • Reimbursement schemes and payers concerns
  • Transition of investigational diagnostic assays and therapeutics to clinical practice
  • Direct to consumer (DTC) test kits and implications for the public
 
Who should read this report?
 
  • Pharmaceutical, biotechnology and diagnostic companies with an interest in personalized medicine
  • Industry professionals and business strategists will discover key information to propel their policies
  • Investors will gain inside information to dominant players in the industry and future forecasts
  • Scientists will get a business perspective and industry insight into how scientific breakthroughs influence the market environment
 
This report will tell you if the companies mentioned are:
 
  • Strong, competitive players
  • Pooling their resources for specific growth and therapeutic areas
  • Investing strategically in R&D
  • Have a history of strategic M&A activity
1.0 Executive Summary 11 
1.1 Objectives of Report 11 
1.2 Scope of Study 12 
1.3 Data Sources and Methodology 12 
1.4 Key Findings and Observations 13 
 
2.0 Introduction 17 
2.1 Pharmacogenetics 18 
2.2 How Personalized Medicine Monitoring can Reduce Adverse Drug Reactions 25 
2.3 Pharmacogenetic Study Challenges 26 
2.4 Pharmacogenomics 26 
2.5 Applications of Pharmacogenomics 27 
2.5.1 Pharmacogenomics: Improving the Safety of Medications 27 
2.5.1.1 Adverse Drug Reactions 27 
2.5.1.2 Pharmacogenomics: Improving the Efficacy of Therapeutics 28 
2.6 Pharmacogenetic Analysis 32 
2.6.1 Single Base Primer Extension 32 
2.6.2 Primer Based Base Extension 32 
2.6.3 Hybridization Based SNP Analysis 33 
2.6.4 Ligation Based Approach 34 
2.6.5 New-Generation Sequencing Technologies 35 
2.6.6 Ultra-High Throughput Sequencing 35 
2.7 Companion Diagnostics 37 
 
3.0 Personalized Medicine Therapeutics and Companion Diagnostics 45 
3.1 CYP2C9 and VKORC1 mutations and Warfarin Response 45 
3.2 HLA-B*5701 and Abacavir Response 45 
3.3 KRAS Mutations 46 
3.3.1 Erbitux 47 
3.3.2 Vectibix 47 
3.4 Herceptin® and Breast Cancer 47 
3.5 BRACAnalysis® 59 
3.5.1 Comprehensive BRACAnalysis® 62 
3.5.2 BRACAnalysis® Rearrangement Test (BART) 62 
3.5.3 Single Site BRACAnalysis® 62 
3.5.4 Multisite 3 BRACAnalysis® 62 
3.6 Oncotype Dx Test 62 
 
4.0 Personalized Medicine and Integration into the Healthcare System 63 
4.1 The Personalized Medicine Coalition 63 
4.2 Personalized Medicine and the Healthcare System 65 
4.3 Clinical Application of Personalized Medicine 65 
4.4 Clinical Laboratory Improvement Amendments-Certified Laboratory of Genomic Pathology 66 
 
5.0 Private and Public Funding and Personalized Medicine Reimbursement 68 
5.1 International Research and Development Personalized Medicine Activity 68 
5.1.1 Publically Funded Personalized Medicine Research 68 
5.1.2 Privately Funded Personalized Medicine Research 69 
5.2 Popular Biological Targets/Pathways in Pharmacogenetic/Pharmacogenomic Research 74 
5.3 Equitable Payer Reimbursement 76 
5.3.1 Molecular Diagnostic Payments in Personalized Medicine 76 
5.3.1.1 RVU-CPT-ICD Coding System 76 
5.3.2 Laboratory Service Payments in Personalized Medicine 76 
5.3.3 Revisions to Current Payment System 76 
5.4 Biorepositories and Biobanks 76 
5.5 Intellectual Property and Personalized Medicine 77 
 
6.0 European Personalized Medicine Market – Payments and Investment 78 Personalized Medicine and Companion Diagnostic Market Q2 2013 
6.1 Personalized Medicine and The European Market 78 
6.2 European Investment in Personalized Medicine 79 
6.3 Overview of Reimbursement Policies in Europe 79 
6.4 Gaining Market Penetration in the EU 80 
6.5 Personalized Medicine Regulation and Reimbursement in the UK 85 
6.6 CE-marked Personalized Medicine/Diagnostic Tests in the UK 90 
6.7 Personalized Medicine Regulation in Germany 90 
6.8 Personalized Medicine Regulation in France 92 
6.9 Personalized Medicine Regulation in Spain 92 
6.10 The Personalized Medicine Regulation in Italy 92 
6.11 Challenges of Future Personalized Medicine Development 93 
 
7.0 Personalized Medicine –Business Model Analysis 94 
7.1 New Business Model Required for Personalized Medicine 94 
7.2 Business Model Strategies for Diagnostic, Pharmaceutical and Biotechnology Companies 95 
7.3 Business Model Strategies for Providers. Provider Systems and Academic Medical Centres 95 
7.4 Business Model Strategies for Payers 96 
7.5 Business Model Strategies for Governments 96 
7.6 Introduction of Non-Health Companies to the Personalized Medicine Market 96 
7.7 Change to the Big Pharma Business Model 97 
7.8 Cost-effectiveness and Business Value of Personalized Medicine 97 
7.9 Comparative Effectiveness Research in Personalized Medicine 98 
 
8.0 Personalized Medicine Main Industry Players 100 
8.1 23andMe 100 
8.2 Affymetrix 101 
8.3 Astex Pharmaceuticals 103 
8.4 Atossa Genetics 105 
8.5 CuraGen 106 
8.6 Celera Corporation (Quest Diagnostics) 106 
8.7 Celldex Therapeutics 107 
8.8 deCode Genetics (Amgen) 108 
8.9 Illumina 109 
8.10 Genelex 110 
8.11 Myriad 111 
8.12 Nodality 112 
8.13 Qiagen 114 
 
9.0 Personalized Medicine Industry Products and Kits 117 
9.1 23andme 117 
9.2 Affymetrix 124 
9.3 Astex Pharmaceuticals 125 
9.4 Atossa Genetics 126 
9.4.1 Mammary Aspirate Specimen Cytology Test (MASCT™) 126 
9.4.2 ForeCYTE Breast Health Test (SM) 126 
9.4.3 ArgusCYTE Breast Health Test(SM) 126 
9.4.4 FullCYTE Breast Health Test 126 
9.4.5 NextCYTE Breast Health Test 127 
9.5 Celera (Quest Diagnostics) 127 
9.5.1 ViroSeq®
HIV-1 Genotyping System 127 
9.5.2 ViroSeq®
HIV-1 Integrase Assay 127 
9.5.3 ViroSeq®
HCV Assay 127 
9.5.4 ViroSeq®
HBV Assay 127 
9.5.5 Cystic Fibrosis Genotyping Assay 127 
9.5.6 LDL-S3GGE® 
Test 129 
9.5.7 HDL-S10GGE® 
Test 129 
9.5.8 KIF6-StatinCheckTM
Genotype Test 129 
9.5.9 9p21-EarlyMICheckTM
Genotype Test 129 
9.5.10 LPA-AspirinCheckTM
Genotype Test 129 
9.5.11 AlleleSEQR® HLA PCR/Sequencing Kits 129 Personalized Medicine and Companion Diagnostic Market Q2 2013 
9.5.12 m2000® RealTime PCR System 130 
9.5.13 CEGA -16™ Instrument 131 
9.6 deCode Genetics 131 
9.6.1 deCodeT2 Genetic Test 132 
9.6.2 deCODE Breast Cancer™ 132 
9.6.3 deCODE Prostate Cancer™ 133 
9.6.4 deCODE AF™ 133 
9.6.5 deCODE Glaucoma™ 133 
9.6.6 deCODE MI™ 133 
9.6.7 deCODE Complete™ 134 
9.6.8 deCODE Cancer™ 135 
9.6.9 deCODE Cardio™ 135 
9.6.10 deCODE Services 135 
9.7 Illumina 136 
9.7.1 Illumina HiSeq 2000/1000 137 
9.7.2 Genome Analyzer IIx 138 
9.7.3 Illumina MiSeq 139 
9.7.4 Illumina HiScanHQ 140 
9.7.5 Illumina HiScan and iScan Array 140 
9.8 Genelex 141 
9.8.1 You Script™ 141 
9.9 Myriad Genetics 143 
9.9.1 BRACAnalysis® 143 
9.9.2 COLARIS®/COLARIS AP® 144 
9.9.3 MELARIS® 145 
9.9.4 PANEXIA® 145 
9.9.5 OnDose® 145 
9.9.6 PREZEON™ 145 
9.9.7 THERAGUIDE® 5FU 145 
9.9.8 Prolaris® 146 
9.10 Nodility 146 
9.11 Qiagen 146 
9.11.1 Genotyping Products 147 
9.11.2 QIAsymphony Platform 150 
 
10.0 Personalized Medicine Market Analysis 152 
10.1 General Overview 152 
10.2 Personalized Medicine Market Forecast 152 
10.3 Personalized Medical Care Market Forecast 154 
10.4 Personalized Medicine -Nutrition and Wellness Sub-Market Forecast 154 
10.5 Personalized Medicine -Diagnostic and Therapeutic Sub-Market Forecast 155 
10.6 Global Personalized Medical Technology Market Forecast 155 
10.7 Global Personalized Medicine Sub-market Growth Forecast 156 
10.8 Molecular Diagnostics Market 158 
10.9 Consumer Genomics Market 158 
10.10 Market Participant Analysis 159 
10.10.1 23andme 159 
10.10.2 Affymetrix 160 
10.10.3 Astex Pharmaceuticals 168 
10.10.4 Atossa Genetics 170 
10.10.5 Celera (Quest Diagnostics) 173 
10.10.6 Celldex Therapeutics 179 
10.10.7 deCode Genetics (Amgen) 180 
10.10.8 Illumina 181 
10.10.9 Genelex 182 
10.10.10 Myriad 183 
10.10.11 Nodality 187 
10.10.12 Qiagen 188 
Personalized Medicine and Companion Diagnostic Market Q2 2013 
 
11.0 Strengths and Advantages of Personalized Medicine 191 
11.1 Sequencing of the Human Genome in 2000 191 
11.2 Improving Patient Care and Reducing Side Effects 191 
11.3 Personalized Medicine will Reduce Healthcare Costs 191 
11.4 FDA Advances in Personalized Medicine Regulation 191 
11.5 Advancing Technologies 192 
11.5.1 Next Generation Sequencing 192 
11.6 Industry Investing in Pharmacogenomics 193 
11.7 Consumer Genomics and POC Market 193 
11.8 Oncology a Driving Force of Personalized Medicine 194 
 
12.0 Restraints of the Personalized Medicine Market 196 
12.1 Lack of Sufficient Regulation 196 
12.2 Lack of Sufficient Genotypic Linkage Studies to Disease Phenotype 196 
12.3 Reimbursement Issues 197 
 
13.0 Personalized Medicine and Regulatory Policies 198 
13.1 Regulation 198 
13.2 Genetic Information Non-discrimination Act (GINA) 199 
13.3 FDA Advancements on Genetic Testing Approval 200 
13.4 FDA- New Models to Assess Gene Therapy Safety 203 
13.5 FDA- Companion Diagnostics 203 
13.6 FDA - Partnership in Applied Comparative Effectiveness Science (PACES) Initiative 203 
 
14.0 Final Summary and Future Perspectives 204 
Personalized Medicine and Companion Diagnostic Market Q2 2013 
Personalized Medicine and Companion Diagnostic Market Q2 2013 
Table 2.1: Quick Facts: Personalized Medicine 18 
Table 2.2: Genetic Mutations that Predispose Individuals to Disease 19 
Table 2.3: Potential Applications of Pharmacogenetics and Pharmacogenomics in Personalized Medicine 19 
Table 2.4: Main Cytochrome P450 Enzymes Involved in Drug Metabolism 19 
Table 2.5: QUICK FACTS: Rapid & Slow Metabolizer Phenotypes 20 
Table 2.6: Population Frequency of Cytochrome P450(CYP) 2C19 Metabolizer Types 21 
Table 2.7: Population Frequency of Cytochrome P450 (CYP) Metabolizer Types 21 
Table 2.8: Depression Medications Affected by Genetic Mutations 21 
Table 2.9: Cardiovascular Medications Affected by Genetic Mutations 22 
Table 2.10: Cancer Medications that may be Affected by Genetic Mutations 22 
Table 2.11: Diabetes Medications Affected by Genetic Mutations 23 
Table 2.12: Anti-Epileptic Drugs Affected by Genetic Mutations 23 
Table 2.13: Anti-Retroviral Drugs Affected by Genetic Mutations 23 
Table 2.14: Anti-Reflux/Ulcer Drugs Affected by Genetic Mutations 23 
Table 2.15: List of Therapeutics According to Cytochrome P450 Subtype Metabolism 24 
Table 2.16: Cytochrome (CYP) P450 Drug-Interactions Inhibitor List 25 
Table 2.17: Cytochrome (CYP) P450 Drug-Interactions Inducer List 25 
Table 2.18: QUICK FACTs - Main Aims of Pharmacogenomics 26 
Table 2.19: How Pharmacogenomics has Influenced the Top Ten Selling Drugs Globally 28 
Table 2.20: Advantages, Disadvantages and Cost of Popular Genotyping Methods 28 
Table 2.21: QUICK FACTS - Top Ten Pharmacogenomics Tests 29 
Table 2.22: QUICK FACTS - FDA Accepted Pharmacogenomic Biomarkers 29 
Table 2.23: QUICK FACTS - Benefits of Single Base Primer Extension in Pharmacogenetics 32 
Table 2.24: Future Applications of Ultra-High Throughput Sequencing 36 
Table 2.25: QUICK FACTS - Comparison of Genotyping Techniques 36 
Table 2.26: Problems associated with Microarray Sequencing 36 
Table 2.27: QUICK-FACTS - Top Ten Genetic Findings of 2010 by 23andMe 36 
Table 2.28: FDA Companion Diagnostics Device List: In Vitro and Imaging Tools 38 
Table 2.29: Important Strategies for a Successful Companion Diagnostic Launch 43 
Table 3.1: Predicted Warfarin Concentrations depending on CYP2C9 and VKORC1 Genotype 45 
Table 3.2: QUICKFACTS - Top Five Most Frequent Cancers in Men and Women, Globally 48 
Table 3.3: QUICKFACTs - Estimated Age-Standardised Incidence Rate per 100,000 of Breast Cancer 
per Country, Worldwide 50 
Table 3.4: QUICK-FACTS - Types of Diagnostic Tests Available to Determine HER2 Status in Breast 
Cancer Patients 55 
Table 3.5: Validated HER2 Tests for Cancer 57 
Table 3.6: QUICK FACTS - Advantages and limitations of IHC HER2 testing applied to breast cancer 57 
Table 3.7: In-Situ Hybridization Determination of HER2 Expression by PathVysion®
and HER2 FISH pharmDxTM 58 
Table 3.8: HER2 CISH Determination 58 
Table 3.9: Validated FISH Kits for HER2 Testing in Breast Cancer 58 
Table 3.10: Validated SISH Kits for HER2 Testing in Breast Cancer 58 
Table 3.11: Validated CISH Kits for HER2 Testing in Breast Cancer 58 
Table 3.12: Advantages and limitations of ISH techniques applied to HER2 testing in breast cancer 59 
Table 3.13: QUICK FACTs- Prevalence of Deleterious Mutations in BRCA1 and BRCA2 Genes 59 
Table 3.14: QUICK FACTs- prevalence of deleterious mutations in BRCA1 and BRCA2 in individuals of 
Ashkenazi Ancestry 60 
Table 3.15: QUICK FACTs- Risk Factors for Hereditary Breast and Ovarian Cancer (HBOC) 61 
Table 3.17: QUICKFACTs- BRACAnalysis® Panel of Assays 62 
Table 4.1: QUICKFACTs - Objectives of the Personalized Medicine Coalition 63 
Table 4.2: Current Personalized Medicine Coalition Members 63 
Table 4.3: Genetic Variants used in care of melanoma, gastrointestinal stromal tumors, non-small-cell 
lung cancer, thymic cancer and breast and ovarian cancers. 65 
Table 4.4: Minimum Definition of a clinically Actionable Variant 66 
Table 4.5: Minimum Criteria for Whole Genome Analysis in Clinical Laboratory Improvement 
Amendments Laboratory of Genomic Pathology, Clinical Whole Genome Analysis 67 
Table 5.1: Public Funding Bodies for Pharmacogenetic/Pharmacogenomic Research 69 Personalized Medicine and Companion Diagnostic Market Q2 2013 
Table 5.2: North American Companies Involved in Pharmacogenomics/Pharmacogenetics Drug 
Development and Diagnostics 70 
Table 5.3: European Companies Involved in Pharmacogenomics/Pharmacogenetics Drug Development 
and Diagnostics 70 
Table 5.4: North American Companies Involved in Pharmacogenomics/Pharmacogenetics Diagnostics 70 
Table 5.5: European & Other Companies Involved in Pharmacogenomics/Pharmacogenetics 
Diagnostics 71 
Table 5.6: North American Companies Involved in Pharmacogenomics/Pharmacogenetics Services 71 
Table 5.7: European/Other Companies Involved in Pharmacogenomics/Pharmacogenetics Services 71 
Table 5.8: North American Companies Involved in Pharmacogenomics/Pharmacogenetics Tools Kits and 
Software 72 
Table 5.9: European Companies Involved in Pharmacogenomics/Pharmacogenetics Tools Kits and 
Software 72 
Table 5.10: North American Companies with Minor interest in Pharmacogenomics/Pharmacogenetics 72 
Table 5.11: European/Other Companies with Minor interest in Pharmacogenomics/Pharmacogenetics 73 
Table 5.12: Large US Companies with Investment into Pharmacogenomics/Pharmacogenetics 73 
Table 5.13: Large European Companies with Investment into Pharmacogenomics/Pharmacogenetics 74 
Table 5.14: Large Japanese Companies with Investment into Pharmacogenomics/Pharmacogenetics 74 
Table 5.15: Top Ten Biological Areas of Interest in Pharmacogenetics/Pharmacogenomics 74 
Table 5.16: Top International Pharmacogenetic/Pharmacogenomic Research Institutions 75 
Table 5.17: Top European Pharmacogenetic/Pharmacogenomic Research Institutions 75 
Table 6.1: QUICK FACTs- Variation of Reimbursement Policies for HER2 and KRAS Testing in 
Europe 79 
Table 6.2: Pharmaceutical Companies Providing Subsidization of Diagnostic Personalized Medicine 
Tests in Europe 80 
Table 6.3: QUICKFACTs - Challenges Within Personalized Medicine Market in Europe 81 
Table 6.4: QUICKFACTS- Function of the European network for Health Technology Assessment 
(EUnetHTA) Organisation 81 
Table 6.5: European network for Health Technology Assessment (EUnetHTA) Partners 82 
Table 6.6: European network for Health Technology Assessment (EUnetHTA) Associates 84 
Table 6.7: Diagnostics Guidance Assessment by the National Institute for Health and Clinical Excellence 
(NICE) 86 
Table 6.8: Current Diagnostics Guidance in Development by the Diagnostics Access Program, UK 87 
Table 6.9: Published Diagnostics Guidance by the Diagnostics Access Program, UK 88 
Table 6.10: Medical Technologies Guidance Assessment by the National Institute for Health and Clinical 
Excellence (NICE) 88 
Table 6.11: Published Medical Technologies Guidance by the National Institute for Health and Clinical 
Excellence (NICE) 89 
Table 6.12: Published Medical Technologies Guidance in Development by the National Institute for 
Health and Clinical Excellence (NICE) 89 
Table 6.13: QUICK FACTs - Key Challenges to Personalized Medicine 93 
Table 6.14: QUICKFACTs - Personalized Medicine - Translation into Medical Applications 93 
Table 7.1: QUICK FACTS - Major Market Trends in Personalized Medicine 94 
Table 7.2: Collaboration Strategies Required between Industry, Payers and Governments for a 
Productive Personalized Medicine Market 94 
Table 7.3: QUICK FACTs - Business Model Recommendations for Diagnostic, Pharmaceutical and 
Biotechnology Companies 95 
Table 7.4: QUICK FACTs - Business Model Recommendations for Providers. Provider Systems and 
Academic Medical Centres 95 
Table 7.5: QUICK FACTS Business Model Recommendations for Payers 96 
Table 7.6: QUICK FACTs - Business Model Recommendations for Governments 96 
Table 7.7: QUICK FACTs - Non-Healthcare Companies with Potential to enter the Personalized 
Medicine Market 97 
Table 7.8: Hurdles of Personalised Medicine with Respect to Cost-Effectiveness 98 
Table 8.1: Patent Listing of Affymetrix Array technology 102 
Table 8.2: Patent Listing of Affymetrix Genotyping Technology 102 
Table 8.3: Patent Listing of Affymetrix Array technology 103 
Table 8.4: Patent Listing of Affymetrix Genotyping Technology 104 
Table 8.5 Astex Pharmaceuticals Pipeline Portfolio 104 104 
Table 8.6: Astex Pharmaceuticals Pipeline Portfolio Funded Completely by Partner Companies 105 Personalized Medicine and Companion Diagnostic Market Q2 2013 
Table 8.7: Potential Business Partnerships of Celldex Therapeutics 107 
Table 8.8: Illumina Core Technologies 109 
Table 8.9: Illumina Core Technology Applications 109 
Table 8.10: Illumina Instrument Product Portfolio 110 
Table 8.11: Illumina Assay Product Portfolio 110 
Table 8.12: Genetic Test Panel Available from Genelex for Research Institutions and Clinical Trials 111 
Table 8.13: Pre-Clinical, Clinical and Commercial Applications of SCNP by Nodality 114 
Table 8.14: Qiagen Timeline of Events, 1994-2012 114 
Table 8.15: QUICKFACTs - Range of Product Groups from Qiagen 116 
Table 9.1: 23andMe Disease Risk Genetic Test Panel 117 
Table 9.2: 23andMe Carrier Status Genetic Test Panel 120 
Table 9.3: 23andMe Drug Response Genetic Marker Test Panel 122 
Table 9.4: 23andMe Genetic Traits Test Panel 122 
Table 9.5: QUICKFACTs - Product Overview of Affymetrix 124 
Table 9.6: Microarray Products by Affymetrix 124 
Table 9.7: Affymetrix Research Services Laboratory (ARSL) Premier Services 125 
Table 9.8: Genetic Applications of Axiom® Technology by Affymetrix 125 
Table 9.9: Range of Small Molecule Therapeutics Available from Astex Pharmaceuticals 125 
Table 9.10: Panel of cystic fibrosis transmembrane conductance regulator (CFTR) mutations screened for 
in Celera Cystic Fibrosis Genotyping Assay 127 
Table 9.11: Genetic Tests Available from BHL/Celera 130 
Table 9.12: Panel of BHL Clinical Diagnostic Tests 130 
Table 9.13: Features of the m2000® RealTime PCR System by Celera 130 
Table 9.14: Genetic Diagnostic Tests Available from deCode Genetics 131 
Table 9.15: Type 2 Diabetes risk range and distribution according to continental ancestry as Determined 
by deCodeT2 Genetic Test 132 
Table 9.16: Genetic Mutations Identified by the deCODE MI™ Test in a European Population 133 
Table 9.17: Genetic Mutations Identified by the deCODE MI™ Test in an East Asian Population 134 
Table 9.18: Disease States that are Included in the deCODE Complete™ Genetic Screen 134 
Table 9.19: Panel of Diseases Screened for in the deCODE Cancer™ Test 135 
Table 9.20: Panel of Cardiovascular Diseases in the deCODE Cardio™ Test 135 
Table 9.21: deCODE Genetics Genotyping and Sequencing Service 135 
Table 9.22: deCODE Genetics Data Management, Protection and Storage Service 136 
Table 9.23: deCODE Genetics Sequence Inputation and Data Analysis Service 136 
Table 9.24: Illumina HiSeq 2500/1500 Performance Parameters 137 
Table 9.25: Illumina HiSeq 2000/1000 Performance Parameters 137 
Table 9.26: Genome Analyzer IIx Performance Parameters 138 
Table 9.27: Illumina MiSeq Product Specifications 139 
Table 9.28: Illumina HiScanHQ Product Specifications 140 
Table 9.29: Illumina HiScan and iScan Array Product Applications 140 
Table 9.30: Illumina iScan Array Kits 140 
Table 9.31: Panel of Genetic Screens Available from Genelex 142 
Table 9.32: Drug Sensitivity Screens Available from Genelex 142 
Table 9.33: Predictive Genetic Tests Available from Myriad 143 
Table 9.34: Services offered with BRACAnalysis® Testing from Myriad 143 
Table 9.35: Advantages of BRACAnalysis® Testing 144 
Table 9.36: COLARIS® Test Range by Myriad 144 
Table 9.37: COLARIS AP® Test Range by Myriad 145 
Table 9.38: MELARIS® Test Range from Myriad 145 
Table 9.39 Personalized Medicine Tests from Myriad 145 
Table 9.40: OnDose® Testing Procedure from Myriad 146 
Table 9.41: Qiagen Genotyping Products for Sample Collection, stabilization and Storage 146 
Table 9.42: Qiagen Genotyping Products for Genomic DNA Isolation and Purification 147 
Table 9.43: Qiagen Genotyping Products for PCR Based Genotyping Analysis 148 
Table 9.44: Qiagen Products for Genotyping Analysis 148 
Table 9.45: Qiagen Genotyping Products for PCR Detection 149 
Table 9.46: Qiagen Assays for Genetic Analysis 149 
Table 9.47: Qiagen Pyrosequencing-Based Genetic Analysis Products 149 
Table 9.48: Specifications and Features of Qiagen’s QIAsymphony and QIAsymphony RGQ 150 
Table 10.1: QUICK FACTs - Submarkets within the Personalized Medicine Technology Market 156 Personalized Medicine and Companion Diagnostic Market Q2 2013 
Table 10.2: Drug Classes Investigated by 23andMe using genome wide association studies 160 
Table 10.3: QUICKFACTs- Acquisition Profile of Affymetrix 161 
Table 10.4: Genetic Applications of Axiom® Technology by Affymetrix 161 
Table 10.5: Diversified Business Units of Affymetrix 162 
Table 10.6: Celera (Quest Diagnostics) Historic Operating (Loss) (US$) – Laboratory Services and 
Products 2008-2010 176 
Table 10.7: Diagnostic Test Product Categories Manufactured by BHL/Celera and Exclusively 
Distributed by Abbott 177 
Table 10.8: Celldex Therapeutics R&D Expenses ($) 2010-2012 179 
Table 10.9: Price Listing of Genelex Familial Genetic Tests 182 
Table 10.10: Myriad - Core Business Decisions and Impact on Industry 2012 186 
Table 10.11: Future Test Portfolio of Myriad 186 
Table 11.1: QUICK FACTS: Strengths and Advantages of Genotyping Techniques 192 
Table 11.2: QUICK FACTS: Strengths, Drivers and Advantages of Personalized Medicine Market 194 
Table 12.1: QUICKFACTs: Restraints of Personalized Medicine Market 197 
Table 13.1: QUICK FACTS - Summary of Clinical Laboratory Improvement Amendments (CLIA) 198 
Table 13.2: Clinical Laboratory Improvement Amendments (CLIA) Testing Categories 199 
Table 13.3: QUICK FACTS - Test Features required prior to FDA Approval and Clearance 199 
Table 13.4: Impact of Genetic Information Non-discrimination Act (GINA) on Healthcare Companies and 
Health Plans 200 
Table 13.5: Impact of Genetic Information Non-discrimination Act (GINA) on US Employers, 
employment agencies, labor organizations and training programs 200 
Table 13.6: QUICK FACTS - FDA Commitment to the Personalized Medicine Industry 201 
Table 13.7: Objectives of the ‘Advancing Regulatory Science at FDA: A Strategic Plan’ 201 
Table 13.8: QUICKFACTS - Implementation Strategy of the FDA to Advance Regulatory Science - 
Develop better Models of Human Adverse response 202 
Table 13.9: QUICKFACTS - Implementation Strategy of the FDA to Advance Regulatory Science - 
Identify and evaluate biomarkers and endpoints that can be used in non-clinical and clinical 
evaluations 202 
Table 13.10: QUICKFACTS - Implementation Strategy of the FDA to Advance Regulatory Science - Use and develop computational methods and in silico modelling 202 
Personalized Medicine and Companion Diagnostic Market Q2 2013 

Figure 2.1: QUICK FACTS - Elements of Personalized Genomic Medicine 17 

Figure 2.2: Identification of Good and Non-Responders in a Patient Population 20 
Figure 2.3: Pharmacodynamic and Pharmacokinetic Examples of Drug Targets and Drug metabolism in 
Pharmacogenomics 27 
Figure 2.4: QUICK FACTS - Flow Diagram of Pharmacogenetic Analysis 32 
Figure 2.5: Primer Based Base Extension in Pharmacogenetics 33 
Figure 2.6: Genetic Mutation Detection by Hybridization 34 
Figure 2.7: Ligation based SNP Detection 34 
Figure 2.8: New-Generation Sequencing: Pyrosequencing 35 
Figure 3.1: QUICK FACTS - Warfarin Metabolism and Response 45 
Figure 3.2: QUICK FACTS - Percentage Frequency of CYP2C9 and VKORC1 mutations in Caucasian, 
African-American and Asian Populations 45 
Figure 3.3: QUICK FACTS: Anti-EGFR Therapy and KRAS Mutations 46 
Figure 3.4: KRAS and BRAF Genetic Tests Available from Asuragen 47 
Figure 3.5: Global Incidence and Mortality of Cancer in Women 48 
Figure 3.6: Cancer Deaths in Women, Globally according to Cancer Type 49 
Figure 3.7: Estimated Age-Standardised Incidence Rate per 100,000 of Breast Cancer Globally 49 
Figure 3.8: HER2 Testing Algorithm for Breast Cancer 56 
Figure 3.9: HER2 Cellular Signalling 56 
Figure 3.10: QUICKFACTs - Herceptin – Mechanism of Action 57 
Figure 3.11: BRCA Mutation Increases the Risk of Breast and Ovarian Cancer 61 
Figure 3.12: Proactive Cancer Management and Preventative Measures Reduces the Risks of Developing 
BRCA-associated Breast and Ovarian Cancer 61 
Figure 4.1: Integration of Multiple components for a Personalized Medicine Healthcare System 64 
Figure 4.2: Workflow Diagram illustrating Clinical Laboratory Improvement Amendments-Certified 
Laboratory of Genomic Pathology 66 
Figure 4.3: Hypothetical Flow Diagram of a Patient through the Genomic Pathology Clinical Laboratory 67 
Figure 5.1: Personalized Medicine Scheme Interaction with Industry, Regulatory Bodies and Funding 
Agencies 68 
Figure 5.2: Number of Publically Funded Pharmacogenetic and Pharmacogenomic Research Teams 
Internationally 69 
Figure 6.1: Adverse Drug Reactions are the Fourth Leading Cause of Death 78 
Figure 6.2: Efficacy Rate of Major Disease Types with Standard Treatment 78 
Figure 6.3: The In Vitro Diagnostic Market in Europe 81 
Figure 6.4: QUICK FACTS: Organization of the European network for Health Technology Assessment 
(EUnetHTA) 82 
Figure 6.5: Key Differences in Reimbursement Policy Approaches for Oncology Diagnostics and 
Therapeutics in Europe and the US 87 
Figure 6.6: Flow Diagram of the German Healthcare System and Key Agencies 91 
Figure 6.7: German Reimbursement Arrangement, Process and Implications 91 
Figure 7.1: Annual Healthcare Expenditure for Major Industrial Nations 99 
Figure 7.2: Estimated Life Expectancy from Birth for Major Industrialized Countries 99 
Figure 8.1: Celldex Therapeutics Product Pipeline 108 
Figure 8.2: Single Cell Network Profiling (SCNP) Technology by Nodality 113 
Figure 8.3: Developed Functional Assays that Nodality has explored using new SCNP Technology 113 
Figure 9.1: Flow Diagram of Celera CEGA -16™ Instrument for Cystic Fibrosis Gene Analysis 131 
Figure 9.2: Percentage of Individual Populations who have an Increased Risk of Developing Type 2 
Diabetes as Determined Using the deCodeT2 Genetic Test 132 
Figure 9.3: Illumina New Generation Sequencing Technology Workflow Station 136 
Figure 10.1: Combined Personalized Medicine Market in the US, 2009-2015 153 
Figure 10.2: Core Personalized Medicine Sub-Market Growth Forecast 2009-2015 153 
Figure 10.3: Personalized Medical Care Sub-Market Growth Forecast 2009-2015 154 
Figure 10.4: Nutrition and Wellness Sub-market of Personalized Medicine Growth Forecast 2009-2015 154 
Figure 10.5: Diagnostic and Therapeutic Personalized Medicine Market Growth Projection in the US, 
2009-2015 155 
Figure 10.6: Global Market Personalized Medicine Technology Growth Forecast 2009-2015 156 
Figure 10.7: Global Personalized Sub-market Growth Forecast 2009-2014 156 
Figure 10.8: Personalized Medicine Sub-Market Share (Percentage) 2009 157 Personalized Medicine and Companion Diagnostic Market Q2 2013 
Figure 10.9: Personalized Medicine Sub-Market Share (Percentage) 2014 157 
Figure 10.10: Global Molecular Diagnostics Predicted Market Share 2015 158 
Figure 10.11: Global Molecular Diagnostics Market Projection 2015 158 
Figure 10.12: Private Funding Gained by 23andMe 2007-2012 159 
Figure 10.13: Affymetrix Revenue by Business Segment (Percentage), 2012 163 
Figure 10.14: Affymetrix Total Revenue 2007-2012 164 
Figure 10.15: Affymetrix Revenue by Product Division – Consumables, Instruments 2010-2012 164 
Figure 10.16: Affymetrix Core Product Sales – Gene Expression, Genetic Analysis & Clinical Applications 
and Life Science Reagents, 2011-2012 165 
Figure 10.17: Affymetrix Revenue Derived from Outside the US, 2009-2012 165 
Figure 10.18: Affymetrix Revenue Derived from the US, 2009-2012 166 
Figure 10.19: Affymetrix Net Loss, 2009-2012 166 
Figure 10.20: Affymetrix Research and Development Funding, 2009-2012 167 
Figure 10.21: Affymetrix Revenue Generated within USA (Percentage) 2010-2012 167 
Figure 10.22: Astex Pharmaceuticals Priority Pipeline Products SGI-110 and AT13387 by Indication, 
Clinical Phase and Timeline 168 
Figure 10.23: Astex Pharmaceuticals Revenue Generated 2008-2012 169 
Figure 10.24: Astex Pharmaceuticals Net Income 2009-2012 170 
Figure 10.25: Atossa Genetics Total Revenue (US$) 2011, 2012 171 
Figure 10.26: Atossa Genetics Revenue (US$) Generated by MASCT Sales and ForeCYTE & ArgusCYTE 
Diagnostic Testing, 2012 172 
Figure 10.27: Atossa Genetics Percentage Revenue Generated by MASCT Sales and ForeCYTE & 
ArgusCYTE Diagnostic Testing, 2012 172 
Figure 10.28: Quest Diagnostics Revenue ($ Billions) 2008-2012 174 
Figure 10.29: Quest Diagnostics Operating Revenue ($ Billions) 2008-2012 174 
Figure 10.30: Quest Diagnostics Net Income ($ Billions) 2008-2012 175 
Figure 10.31: Celera (Quest Diagnostics) Historic Revenue Generated 2008-2010 175 
Figure 10.32: Celera (Quest Diagnostics) Historic Gross Margin Generated 2008-2010 176 
Figure 10.33: Celera (Quest Diagnostics) Historic Revenue Generated– Laboratory Services and Products 
2008-2010 176 
Figure 10.34: Celera (Quest Diagnostics) Historic Revenue (%)Generated by Distribution Agreement with 
Abbott 2008-2010 177 
Figure 10.35: Celera (Quest Diagnostics) Historic Research and Development Spending 2008-2010 178 
Figure 10.36: deCode Genetics Historic Net Loss Incurred 2004-2008 180 
Figure 10.37: Illumina Revenue Generated ($ Billions) 2010-2012 181 
Figure 10.38: Illumina Net Income Generated ($ Billions) 2010-2012 182 
Figure 10.39: Myriad Revenue Generated 2007-2013 184 
Figure 10.40: Operating Income Generated by Myriad 2007-2012 185 
Figure 10.41: Myriad Revenue Generated by Molecular Diagnostic Testing and Companion Diagnostic 
Services, 2012 185 
Figure 10.42: Future Molecular Diagnostic Pipeline of Myriad 186 
Figure 10.43: Customer Profile of Qiagen – Percentage of Net Sales 2012 189 
Figure 10.44: Qiagen Global Net Sales 2007-2012 189 
Figure 10.45: Qiagen Operating Income 2007-2012 190 
Figure 10.46: Qiagen Global Net Income 2007-2012 190 
Figure 11.1: Percentage Oncology (Lung, Colorectal, Breast, Prostate) Patients Undergoing Next 
Generation Sequencing Testing in the US, 2018 193 
Figure 11.2: Pipeline and On-market Oncology (Lung, Breast, Colorectal, Prostate) Therapeutics Directed 
Against Specific Mutations, 2013 195 
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