TECHNOLOGIES, PRODUCTS & SERVICES for MOLECULAR DIAGNOSTICS, MDx ABA 298



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DIAGNOSTICS BUSINESS ANALYSIS SERIES: TECHNOLOGIES, PRODUCTS & SERVICES for MOLECULAR DIAGNOSTICS, MDx ABA 298 By ADAMS BUSINESS ASSOCIATES MAY 2014. May 2014 ABA 298 1

Technologies, Products & Services for Molecular Diagnostics, MDx, May 2014 CONTENTS LIST 1. Introduction & Purpose for Business Analysis of Molecular Diagnostics 1 2. Technology Procedures for Molecular Diagnostics 17 2.1. Technology Overview 17 2.2. Accessories for DNA Analysis & MDx 20 2.3. Technologies for Molecular Diagnostics Descriptions 30 2.3.1. DNA Probes for DNA Analysis & MDx 30 2.3.2. Amplification Methods for DNA Analysis & MDx 36 2.3.3. DNA Sequencing for DNA Analysis & MDx 44 2.3.4. Custom Services for DNA Analysis & MDx 49 2.3.5. BioInformatics for DNA Analysis & MDx 51 2.4. Targets for DNA Analysis & Molecular Diagnostics 53 2.4.1. Single Nucleotide Polymorphisms, SNPs 53 2.4.2. RNA Interference, RNAi & sirna & MicroRNA, mirna 59 2.4.3. Whole Genome Targeting or Genome Wide Association Studies, GWAS 63 2.4.4. Epigenetics DNA methylation, Histone Modification 64 3. Applications of DNA Analysis & Molecular Diagnostics 67 3.1. Application Overview 67 3.2. Clinical Diagnostics 71 3.3. Genomics & Inherited Disease Diagnostics 78 3.4. Drug Discovery & Toxicology 87 3.5. Personalised Medicine & Companion Diagnostics 91 3.6. POCT and Molecular Diagnostics 96 3.7. Cytogenetics and Molecular Diagnostics 98 3.8. Non-Clinical Applications of Molecular Diagnostics 100 3.9. Challenges for Technology & Applications for Molecular Diagnostics 106 2

4. Regulatory, Reimbursement & Ethical Impact for Molecular Diagnostics 109 4.1. Regulatory Dynamics & Impact 109 4.2. Reimbursement Impact for Molecular Diagnostics 118 4.3. Ethical Impact for Molecular Diagnostics 127 5. Market Segments & Quantification for Molecular Diagnostics 130 5.1 Total Market & Sector Dynamics 130 5.2 Application Markets for Molecular Diagnostic Test 141 6. Company Profiles & Status for Molecular Diagnostics, 2013/14 154 6.1 Company Profile Introduction 154 6.2 Established Diagnostic Companies 155 6.3 Focussed Molecular Diagnostic Companies 162 6.4 Molecular Diagnostic Service Laboratories 168 6.5 Life Science Research Molecular Diagnostic Companies 172 7. Strategic Marketing Implications for Molecular Diagnostics 186 7.1 Marketing Philosophy 186 7.2 Technology Status 188 7.3 Marketing Tools & Generic Strategic Marketing Strategies Applied to MDx 191 3

FIGURES 1. Introduction & Purpose for Business Analysis of Molecular Diagnostics 1 Figure 298.1. Reports for ABA Global Library for Life Science Research & Diagnostics 1 Figure 298.2. ABA Global Library for Life Science Research Reports Second Edition 2014 2 Figure 298.3. Biotechnology as a Sector or an Enabling Technology, 2013 4 Figure 298.4. Basic Features of the Technology S-Curve 6 Figure 298.5. Technology S-Curve for the IVD Sector in 2013/14 6 Figure 298.6. Biological Cascade for Life Sciences 9 Figure 298.7. Healthcare Dynamics for IVDs, 2014 11 Figure 298.8. Healthcare Dynamics for in vitro Diagnostics & Medical Devices, 2014 12 Figure 298.9. Genomics and Proteomics Links for in vitro Diagnostics Research 13 Figure 298.10. Genomic Research & Drug Discovery for MDx Analysis, 2014 14 2. Technology Procedures for Molecular Diagnostics 17 Figure 298.11. DNA Analysis Technologies Used in 2008 18 Figure 298.12. DNA Analysis Product Listings, 2014 19 Figure 298.13. Microarray Systems & Products, 2014 24 Figure 298.14. Thermal Cycler Key Features & Importance Rating, 2012 27 Figure 298.15. DNA Analysis & MDx Accessories Vendor Listing, 2014 28 Figure 298.16. DNA Analysis Product Listings, 2014 31 Figure 298.17. DNA Probe Products & Accessory Supplier Examples, 2014 32 Figure 298.18. DNA Amplification Technology 36 Figure 298.19. DNA Amplification Technology for Diagnostic Applications 38 Figure 298.20. Molecular Diagnostics Leading Amplification Technologies, 2014 39 Figure 298.21. Amplification Method Comparison, 2014 41 Figure 298.22. qpcr Amplification Systems, 2014 42 Figure 298.23. Molecular Diagnostics Technology Uses in Pathway Analysis - 2013 43 Figure 298.24. DNA Sequencing Technology Commercial Suppliers - 2014 48 Figure 298.25. Genomics & DNA Analysis & MDx Service Provider Companies, 2014 50 Figure 298.26. Genomics & Proteomics Bioinformatics Products & Suppliers, 2014 52 Figure 298.27. Technologies for SNP Determinations 1. MALDI-TOF Mass Spectroscopy 55 Figure 298.28. Technologies for SNP Determinations 2. Triplex Forming Probes 55 Figure 298.29. Possible SNP Applications in Gene Analysis 55 Figure 298.30. Commercial SNP Platforms & Products, 2014 57 Figure 298.31. microrna Profiling Service Companies, 2014 61 Figure 298.32. Companies Providing microrna Products, 2014 62 4

3. Applications of DNA Analysis & Molecular Diagnostics 67 Figure 298.33. Proposed Major Applications for Molecular Diagnostics as of 2004 67 Figure 298.34. Technology Application Status for MDx Applications, 2008 69 Figure 298.35. Technology & Application Status for Molecular Diagnostics, 2014 70 Figure 298.36. Microarrays & DNA Analysis Applications 73 Figure 298.37. Cancer Diagnostics Molecular Diagnostics Applications 75 Figure 298.38. Infectious Disease Molecular Diagnostic Applications 76 Figure 298.39. Example Genomic Analysis, microrna & Epigenetic Products & Applications 80 Figure 298.40. Example Next Generation Sequencing Products, 2014 83 Figure 298.41. MDx Applications & Focus Areas for Drug Discovery, 2014 88 Figure 298.42. MDx Applications in the Drug Discovery Process, 2014 89 Figure 298.43. Examples of Major Drug Response Rates 91 Figure 298.44. Early Examples & Development Diagnostics 93 Figure 298.45. Benefits & Hurdles for MDx Companion Diagnostics, CDx 94 Figure 298.46. Potential Impact of Synthetic Biology Involving Molecular Diagnostics 104 4. Regulatory, Reimbursement & Ethical Impact for Molecular Diagnostics 109 Figure 298.47. European IVD-MMD Product Classifications, 2013/14 112 Figure 298.48. Summary of Class Approval Procedures for CE Mark Assignment 113 5. Market Quantification & Dynamics for Molecular Diagnostics 130 Figure 298.49. Global Molecular Diagnostics Market Figures & Projections, 2003-2018 131 Figure 298.50. Molecular Diagnostic Tests & Products from LabMedica May 2014 134 Figure 298.51. Molecular Diagnostic Test Regional IVD Market Distribution, 2004 & 2009 135 Figure 298.52. IVD and Molecular Diagnostic Tests Regional Market Distribution, 2013/14 136 Figure 298.53. Molecular Diagnostic Test Segment Distribution, 2013/14 137 Figure 298.54. Molecular Diagnostic Test Segment Distribution in Europe, 2013/14 138 Figure 298.55. Molecular Diagnostic Global Technology Distribution, 2013/14 140 Figure 298.56. Clinical & Genetic Testing Molecular Diagnostic Product Group Markets, 2013 141 Figure 298.57. Genetic Testing Molecular Diagnostic Product Group Markets, 2013 144 Figure 298.58. Regional Clinical Applications of Molecular Diagnostic Product Groups, 2013 145 Figure 298.59. Regional Clinical Applications of Molecular Diagnostic Product Groups, 2018 145 Figure 298.60. Clinical Diagnostics Approved in the USA, 2014 146 Figure 298.61. European Infectious Disease Clinical Diagnostics Markets by Country, 2013 147 Figure 298.62. Potential Areas for Future Molecular Diagnostics Clinical Application Areas 149 5

Figure 298.63 Research Areas for Molecular Diagnostics Development & Applications, 2014 151 Figure 298.64 Regional Research & Clinical Research MDx Product Groups, 2013 152 Figure 298.65 Non-Clinical Molecular Diagnostic Application Markets, 2013 153 6. Company Profiles & Status for Molecular Diagnostics, 2013/14 154 Figure 298.66. Company Profile Summary Abbott Diagnostics 155 Figure 298.67. Company Profile Summary Becton Dickinson 156 Figure 298.68. Company Profile Summary biomerieux 156 Figure 298.69. Company Profile Summary Bio Rad Laboratories 157 Figure 298.70. Company Profile Summary Danaher [Beckman Coulter] 157 Figure 298.71. Company Profile Summary Grifols 158 Figure 298.72. Company Profile Summary Roche Molecular Diagnostics 159 Figure 298.73. Company Profile Summary Siemens 160 Figure 298.74. Broad Based Diagnostic Company Business Shares, 2013 161 Figure 298.75. Company Profile Summary Cepheid 162 Figure 298.76. Company Profile Summary Agilent [Dako, etc] 163 Figure 298.77. Company Profile Summary Hologic [Gen Probe & Third Wave Technologies] 164 Figure 298.78. Company Profile Summary Qiagen 165 Figure 298.79. Company Profile Summary Enigma Diagnostics 166 Figure 298.80. Molecular Biology Based MDx Company Market Positions, 2013 167 Figure 298.81. Company Profile Summary Myriad Genetics 168 Figure 298.82. Company Profile Summary Locus Development Inc. [Genomic Health] 169 Figure 298.83. Molecular Diagnostic Services for MDx Products, 2013 171 Figure 298.84. Company Profile Summary Illumina 172 Figure 298.85. Company Profile Summary Sequenom 173 Figure 298.86. Company Profile Summary Affymetrix 173 Figure 298.87. Company Profile Summary Fluidigm 174 Figure 298.88. Life Science Research Suppliers of MDx Products, 2013 174 Figure 298.89. Overview of Commercial Molecular Diagnostic Companies, 2014 177 7. Strategic Marketing Implications for Molecular Diagnostics 186 Figure 298.90. Typical Key Elements in MDx Basis of Competition Analysis 187 Figure 298.91. S-Curve Technology Analysis for Molecular Diagnostics, 2014 189 6