DIAGNOSTICS BUSINESS ANALYSIS SERIES: TECHNOLOGIES, PRODUCTS & SERVICES for MOLECULAR DIAGNOSTICS, MDx ABA 298 By ADAMS BUSINESS ASSOCIATES March 2017. March 2017 ABA 298 1
Technologies, Products & Services for Molecular Diagnostics, MDx, May 2014 & December 2016 CONTENTS LIST 1. Introduction & Purpose for Business Analysis of Molecular Diagnostics 1 2. Technology Procedures for Molecular Diagnostics 16 2.1. Technology Overview 16 2.2. Accessories for DNA Analysis & MDx 19 2.3. Technologies for Molecular Diagnostics Descriptions 29 2.3.1. DNA Probes for DNA Analysis & MDx 29 2.3.2. Amplification Methods for DNA Analysis & MDx 35 2.3.3. DNA Sequencing for DNA Analysis & MDx 46 2.3.4. Technology Developments 51 2.3.5. Custom Services for DNA Analysis & MDx 53 2.3.6. BioInformatics for DNA Analysis & MDx 55 2.4. Targets for DNA Analysis & Molecular Diagnostics 57 2.4.1. Single Nucleotide Polymorphisms, SNPs 57 2.4.2. RNA Interference, RNAi & sirna & MicroRNA, mirna 62 2.4.3. Whole Genome Targeting or Genome Wide Association Studies, GWAS 66 2.4.4. Epigenetics DNA methylation, Histone Modification 68 3. Applications of DNA Analysis & Molecular Diagnostics 71 3.1. Application Overview 71 3.2. Clinical Diagnostics 75 3.3. Genomics & Inherited Disease Diagnostics 82 3.4. Drug Discovery & Toxicology 90 3.5. Personalised Medicine & Companion Diagnostics 94 3.6. POCT and Molecular Diagnostics 100 3.7. Cytogenetics and Molecular Diagnostics 102 3.8. Clinical Application Developments 104 2
3.9. Non-Clinical Applications of Molecular Diagnostics 105 3.10. Challenges for Technology & Applications for Molecular Diagnostics 111 4. Regulatory, Reimbursement & Ethical Impact for Molecular Diagnostics 114 4.1. Regulatory Dynamics & Impact 114 4.2. Reimbursement Impact for Molecular Diagnostics 123 4.3. Regulatory Developments for Molecular Diagnostics. 132 4.4. Ethical Impact for Molecular Diagnostics 13 7 5. Market Segments & Quantification for Molecular Diagnostics 140 5.1 Total Market & Sector Dynamics 140 5.2 Application Markets for Molecular Diagnostic Test in vitro Diagnostics 152 5.3 Application Markets for Molecular Diagnostic Test Research & Non-Clinical Diagnostics 164 6. Company Profiles & Status for Molecular Diagnostics, 2016 171 6.1 Company Profile Introduction 171 6.2 Established Diagnostic Companies 172 6.3 Focussed Molecular Diagnostic Companies 179 6.4 Molecular Diagnostic Service Laboratories 184 6.5 Life Science Research Molecular Diagnostic Companies 188 6.6 Other Companies for Molecular Diagnostic Products Companies 191 6.7. Commercial Activity & Market Status 200 7. Strategic Marketing Implications for Molecular Diagnostics 204 7.1 Marketing Philosophy 204 7.2 Technology Status 208 7.3 Marketing Tools & Generic Strategic Marketing Strategies Applied to MDx 209 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 Third Edition 2016 2 Figure 298.3. Biotechnology as a Sector or an Enabling Technology, 2016 4 Figure 298.4. Basic Features of the Technology S-Curve 5 Figure 298.5. Technology S-Curve for the IVD Sector in 2013/14 6 Figure 298.6. Biological Cascade for Life Sciences 8 Figure 298.7 Healthcare Dynamics for IVDs, 2014-2016 10 Figure 298.8 Healthcare Dynamics for in vitro Diagnostics & Medical Devices, 2016 11 Figure 298.9 Genomics and Proteomics Links for in vitro Diagnostics Research 12 Figure 298.10 Genomic Research & Drug Discovery for MDx Analysis, 2016 13 2. Technology Procedures for Molecular Diagnostics 16 Figure 298.11 DNA Analysis Technologies Used in 2008 16 Figure 298.12 DNA Analysis Product Listings, 2016 18 Figure 298.13 Microarray Systems & Products, 2016 23 Figure 298.14 Thermal Cycler Key Features & Importance Rating, 2014 26 Figure 298.15 DNA Analysis & MDx Accessories Vendor Listing, 2016 27 Figure 298.16. DNA Analysis Product Listings, 2016 30 Figure 298.17DNA Probe Products & Accessory Supplier Examples, 2016 31-33 Figure 298.18 DNA Amplification Technology 35 Figure 298.19 DNA Amplification Technology for Diagnostic Applications 37 Figure 298.20 Molecular Diagnostics Leading Amplification Technologies, 2016 38 Figure 298.21 Amplification Method Comparison, 2016 40 Figure 298.22 qpcr Amplification Systems, 2016 41 Figure 298.23 Molecular Diagnostics Technology Uses in Pathway Analysis 2013 42 Figure 298.23A Isothermal Enzyme Amplification Products & Technology Examples, 2016 45 Figure 298.24 DNA Sequencing Technology Commercial Suppliers 2016 50 Figure 298.25 Genomics & DNA Analysis & MDx Service Provider Companies, 2016 54 Figure 298.26 Genomics & Proteomics Bioinformatics Products & Suppliers, 2016 56 Figure 298.27 Technologies for SNP Determinations 1. MALDI-TOF Mass Spectroscopy 59 Figure 298.28 Technologies for SNP Determinations 2. Triplex Forming Probes 59 Figure 298.29 Possible SNP Applications in Gene Analysis 59 Figure 298.30 Commercial SNP Platforms & Products, 2016 61 4
Figure 298.31 microrna Profiling Service Companies, 2016 65 Figure 298.32 Companies Providing microrna Products, 2016 66 3. Applications of DNA Analysis & Molecular Diagnostics 71 Figure 298.33 Proposed Major Applications for Molecular Diagnostics as of 2004 71 Figure 298.34 Technology Application Status for MDx Applications, 2008 73 Figure 298.35 Technology & Application Status for Molecular Diagnostics, 2016 74 Figure 298.36 Microarrays & DNA Analysis Applications 77 Figure 298.37 Cancer Diagnostics Molecular Diagnostics Applications 79 Figure 298.38 Infectious Disease Molecular Diagnostic Applications 80 Figure 298.39 Example Genomic Analysis, microrna & Epigenetic Products & Applications 84 Figure 298.40 Example Next Generation Sequencing Products, 2016 87 Figure 298.41 MDx Applications & Focus Areas for Drug Discovery, 2016 92 Figure 298.42 MDx Applications in the Drug Discovery Process, 2016 93 Figure 298.43 Examples of Major Drug Response Rates 94 Figure 298.44 Early Examples & Development Diagnostics of Companion Diagnostics 97 Figure 298.45 Benefits & Hurdles for MDx Companion Diagnostics, CDx 98 Figure 298.46 Potential Impact of Synthetic Biology Involving Molecular Diagnostics 109 4. Regulatory, Reimbursement & Ethical Impact for Molecular Diagnostics 109 Figure 298.47 European IVD-MMD Product Classifications, 2014/16 117 Figure 298.48 Summary of Class Approval Procedures for CE Mark Assignment 118 5. Market Quantification & Dynamics for Molecular Diagnostics 140 Figure 298.49. Global Molecular Diagnostics Market Figures & Projections, 2003-2018 141 Figure 298.50. Molecular Diagnostic Tests & Products from LabMedica May 2014 144 Figure 298.51. Molecular Diagnostic Test Regional IVD Market Distribution, 2004 & 2009 145 Figure 298.52. IVD and Molecular Diagnostic Tests Regional Market Distribution, 2016 146 Figure 298.53. Molecular Diagnostic Test Segment Distribution, 2016 147 Figure 298.54. Molecular Diagnostic Test Segment Distribution in Europe, 2013/14 149 Figure 298.55. Molecular Diagnostic Global Technology Distribution, 2016 151 Figure 298.56. Clinical & Genetic Testing Molecular Diagnostic Product Group Markets, 2016 152 Figure 298.57. Genetic Testing Molecular Diagnostic Product Group Markets, 2016 155 Figure 298.58. IVD & Diagnostic Molecular Biology Technology Usage, 2016 156 Figure 298.59 IVD & Diagnostic Molecular Biology Technology Usage, 2021 157 Figure 298.60 IVD Molecular Diagnostics Product Group Markets, 2016 & 2021 157 Figure 298.61 Regional Clinical Applications of Molecular Diagnostic Product Groups, 2016 158 Figure 298.62 Regional Clinical Applications of Molecular Diagnostic Product Groups, 2021 158 5
Figure 298.63 Clinical Diagnostics Approved in the USA, 2014 159 Figure 298.64 European Infectious Disease MDx - Clinical Diagnostics Markets by Country, 2016 160 Figure 298.65 Potential Areas for Future Molecular Diagnostics Clinical Application Areas 162 Figure 298.66 Research Areas for Molecular Diagnostics Development & Applications, 2016 165 Figure 298.67 Regional Research & Clinical Research MDx Product Groups, 2016 165 Figure 298.68 Non-Clinical Molecular Diagnostic Application Markets, 2016 166 Figure 298.69 Overall Molecular Diagnostic Applications Market, 2016 168 Figure 298.70 Overall Molecular Diagnostic Applications Market, 2016 169 Figure 298.71 Various Other Applications for Molecular Diagnostics, $M 2016 & 2021 170 6. Company Profiles & Status for Molecular Diagnostics, 2013/14 171 Figure 298.72. Company Profile Summary Abbott Diagnostics 172 Figure 298.73. Company Profile Summary Becton Dickinson 173 Figure 298.74. Company Profile Summary biomerieux 173 Figure 298.75 Company Profile Summary Bio Rad Laboratories 174 Figure 298.76. Company Profile Summary Grifols 174 Figure 298.77. Company Profile Summary Danaher [Beckman Coulter & Cepheid] 175 Figure 298.78. Company Profile Summary Roche Molecular Diagnostics 176 Figure 298.79. Company Profile Summary Siemens 177 Figure 298.80. Broad Based Diagnostic Company Business Shares, 2016 178 Figure 298.81. Company Profile Summary Agilent [Dako, etc] 179 Figure 298.82. Company Profile Summary Hologic [Gen Probe & Third Wave Technologies] 180 Figure 298.83. Company Profile Summary Qiagen 181 Figure 298.84. Company Profile Summary Enigma Diagnostics 182 Figure 298.85. Emerging MDx Company Summary 2016 182 Figure 298.86. Molecular Biology Based MDx Company Market Positions, 2016 183 Figure 298.87. Company Profile Summary Myriad Genetics 185 Figure 298.88. Company Profile Summary Locus Development Inc. [Genomic Health] 185 Figure 298.89. Molecular Diagnostic Services for MDx Products, 2016 187 Figure 298.90. Company Profile Summary Illumina 188 Figure 298.91. Company Profile Summary Sequenom 189 Figure 298.92. Company Profile Summary Fluidigm 189 Figure 298.93. Company Profile Summary Thermo Fisher [Affymetrix] 190 Figure 298.94. Overview of Commercial Molecular Diagnostic Companies, March 2017 193-199 7. Strategic Marketing Implications for Molecular Diagnostics 204 Figure 298.95. Typical Key Elements in MDx Basis of Competition Analysis 204 Figure 298.96. S-Curve Technology Analysis for Molecular Diagnostics, 2016 207 6