Table of Content

i. Companion Diagnostic Market - Strategic Situation Analysis .........................................19 ii. Guide for Executives, Marketing, Sales and Business Development Staff .....................22 iii. Guide for Management Consultants and Investment Advisors ....................................24 1. Introduction and Market Definition ...................................................................................25
1.1 What are Companion Diagnostics? ..................................................................................... 26 1.2 The Personalized Medicine Revolution ................................................................................. 29 1.3 Market Definition .................................................................................................................... 31
1.3.1 Revenue Market Size........................................................................................................ 31 1.4 Methodology .......................................................................................................................... 32 1.4.1 Authors .............................................................................................................................. 32 1.4.2 Sources.............................................................................................................................. 33 1.5 A Spending Perspective on Clinical Laboratory Testing ..................................................... 34 1.5.1 U.S. Medicare Expenditures for Laboratory Testing ....................................................... 34
2. Market Overview ................................................................................................................38
2.1 Players in a Dynamic Market ................................................................................................. 39 2.1.1 Academic Research Lab ................................................................................................ 40 2.1.2 Diagnostic Test Developer............................................................................................... 40 2.1.3 Instrumentation Supplier .................................................................................................. 40 2.1.4 Distributor and Reagent Supplier .................................................................................... 41
2.1.5 Independent Testing Lab................................................................................................. 41 2.1.6 Public National/regional lab ........................................................................................... 42 2.1.7 Hospital lab ....................................................................................................................... 42 2.1.8 Physician Office Labs ....................................................................................................... 43 2.1.9 Audit Body ........................................................................................................................ 43 2.1.10 Certification Body........................................................................................................... 44
2.2 Personalized Medicine and Companion Diagnostics ......................................................... 45 2.2.1 Basics ................................................................................................................................. 45 2.2.2 Method.............................................................................................................................. 46 2.2.3 Disease risk assessment .................................................................................................... 46 2.2.4 Applications...................................................................................................................... 46 2.2.5 Diagnosis and intervention .............................................................................................. 47
2.2.5.1 Companion Diagnostics .......................................................................................... 48 2.2.6 Drug development and usage ....................................................................................... 48 2.2.7 Respiratory proteomics .................................................................................................... 49 2.2.8 Cancer genomics ............................................................................................................ 50 2.2.9 Population screening ....................................................................................................... 51 2.2.10 Challenges...................................................................................................................... 51 2.2.11 Regulatory oversight ...................................................................................................... 51 2.2.12 Intellectual property rights............................................................................................. 52 2.2.13 Reimbursement policies................................................................................................. 52 2.2.14 Patient privacy and confidentiality .............................................................................. 52
2.3 Chromosomes, Genes and Epigenetics ............................................................................... 54 2.3.1 Chromosomes................................................................................................................... 54
2.3.2 Genes ................................................................................................................................ 56
2.3.3 Epigenetics ....................................................................................................................... 59 2.4 CancerGenes.......................................................................................................................60 2.4.1 Germline vs Somatic ........................................................................................................ 62 2.4.2 Changing Clinical Role .................................................................................................... 64 2.5 Structure of Industry Plays a Part ........................................................................................... 65 2.5.1 New Pharmaceutical Funding Market ........................................................................... 65 2.5.2 Economies of Scale.......................................................................................................... 65 2.5.2.1 Hospital vs. Central Lab ........................................................................................... 66 2.5.3 Physician Office Labs ....................................................................................................... 67 2.5.4 Physicians and POCT........................................................................................................ 67
3. Market Trends......................................................................................................................69
3.1 Factors Driving Growth........................................................................................................... 70 3.1.1 Level of Care .................................................................................................................... 70 3.1.2 Immuno-oncology............................................................................................................ 71 3.1.3 Liability............................................................................................................................... 71 3.1.4 Aging Population.............................................................................................................. 71 3.2 Factors Limiting Growth.......................................................................................................... 73 3.2.1 State of knowledge.......................................................................................................... 73 3.2.2 Genetic Blizzard................................................................................................................ 74 3.2.3 Protocol Resistance.......................................................................................................... 74 3.2.4 Regulation and coverage............................................................................................... 74 3.3 Instrumentation and Automation.......................................................................................... 75 3.3.1 Instruments Key to Market Share..................................................................................... 75
3.3.2 Bioinformatics Plays a Role .............................................................................................. 75 3.4 Diagnostic Technology Development.................................................................................. 76 3.4.1 Next Generation Sequencing Fuels a Revolution.......................................................... 77 3.4.2 Single Cell Genomics Changes the Picture ................................................................... 78 3.4.3 Pharmacogenomics Blurs Diagnosis and Treatment..................................................... 79 3.4.4 CGES Testing, A Brave New World .................................................................................. 79 3.4.5 Biochips/Giant magneto resistance based assay......................................................... 80
4. Companion Diagnostics Recent Developments .............................................................81
4.1 Recent Developments – Importance and How to Use This Section................................... 82 4.1.1 Importance of These Developments .............................................................................. 82 4.1.2 How to Use This Section.................................................................................................... 82 FDA Approval for FoundationOne®CDx .................................................................................... 82 FDA finalizes CDx Guidance........................................................................................................ 83 QIAGEN Launches CDx Therascreen BRAF Test ......................................................................... 85 Myriad Genetics Seeks Approval for Companion Diagnostic.................................................. 86 ARUP Labs Seek PMA for Hemophilia Gene Therapy CDx........................................................ 87 QIAGEN Builds on Global Collaboration with Amgen............................................................... 87 Foundation Medicine nabs 19th companion Dx....................................................................... 88 Maze Therapeutics Uses CRISPR for Precision Medicine Companion Diagnostics ................. 89 Myriad Wins Japanese Approval for BRACAnalysis................................................................... 91 Fujitsu Improves Efficiency in Cancer Genomic Medicine ....................................................... 93 Thermo Fisher's automated sequencer to offer same-day, pan-cancer test results .............. 95 Takeda, Prometheus Enter IBD Drug-Companion Diagnostic Partnership .............................. 96 Thermo Fisher, Eli Lilly Ink CDx Collaboration in NSCLC, Thyroid Cancer ................................. 97
Roche VENTANA PD-L1 (SP142) Assay approved as companion diagnostic.......................... 99 Universal Genetic Testing for All Breast Cancer Patients......................................................... 100 Exact Sciences buys Genomic Health...................................................................................... 100 Biodesix Highlights Pipeline and Companion Diagnostic Development ............................... 103 Multi-Gene Liquid Biopsy Breast Cancer Panel........................................................................ 104 New Gene Panel Identifies High Risk Prostate Cancer ........................................................... 105 Guardant Health Liquid Biopsy Test to be Covered by EviCore............................................. 106 Inivata Completes £39.8M Series B Funding Round................................................................. 107 Bio-Rad Clinical ddPCR Test, Diagnostic System Get FDA Clearance................................... 108 CellMax, Medigen Biotech Partner in Colorectal Cancer Clinical Trials ............................... 109
5. Profiles of Key Players .......................................................................................................111
10x Genomics, Inc...................................................................................................................... 112 Abbott Diagnostics..................................................................................................................... 113 AccuraGen Inc........................................................................................................................... 115 Adaptive Biotechnologies ......................................................................................................... 116 Aethlon Medical......................................................................................................................... 118 Agena Bioscience, Inc............................................................................................................... 119 Agilent ......................................................................................................................................... 121 Anchor Dx ................................................................................................................................... 123 ANGLE plc ................................................................................................................................... 124 ApoCell, Inc. ............................................................................................................................... 125 ArcherDx, Inc. ............................................................................................................................. 126 ARUP Laboratories...................................................................................................................... 127 Asuragen..................................................................................................................................... 129
AVIVA Biosciences ..................................................................................................................... 131 Baylor Miraca Genetics Laboratories ....................................................................................... 132 Beckman Coulter, Inc. ............................................................................................................... 133 Becton, Dickinson and Company............................................................................................. 134 BGI Genomics Co. Ltd ............................................................................................................... 136 Bioarray Genetics ....................................................................................................................... 138 Biocartis ....................................................................................................................................... 139 Biocept, Inc................................................................................................................................. 140 Biodesix Inc. ................................................................................................................................ 141 BioFluidica ................................................................................................................................... 142 BioIVT ........................................................................................................................................... 145 Biolidics Ltd.................................................................................................................................. 146 bioMérieux Diagnostics.............................................................................................................. 147 Bioneer Corporation................................................................................................................... 149 Bio-Rad Laboratories, Inc........................................................................................................... 151 Bio-Reference Laboratories ....................................................................................................... 153 Bio-Techne .................................................................................................................................. 154 Bioview ........................................................................................................................................ 156 Bolidics......................................................................................................................................... 158 Boreal Genomics........................................................................................................................ 159 Bristol-Myers Squibb .................................................................................................................... 160 Cancer Genetics........................................................................................................................ 162 Caris Molecular Diagnostics ...................................................................................................... 164 Castle Biosciences, Inc. ............................................................................................................. 165
CellMax Life................................................................................................................................. 166 Cepheid (now Danaher) ........................................................................................................... 167 Charles River Laboratories ......................................................................................................... 169 Chronix Biomedical .................................................................................................................... 171 Circulogene................................................................................................................................ 172 Clinical Genomics ...................................................................................................................... 173 Cynvenio..................................................................................................................................... 175 Cytolumina Technologies Corp. ............................................................................................... 176 CytoTrack.................................................................................................................................... 177 Datar Cancer Genetics Limited................................................................................................ 178 Diagnologix LLC.......................................................................................................................... 179 Diasorin S.p.A. ............................................................................................................................. 181 Enzo Life Sciences, Inc. .............................................................................................................. 182 Epic Sciences.............................................................................................................................. 184 Epigenomics AG......................................................................................................................... 185 Eurofins Scientific ........................................................................................................................ 186 Exosome Diagnostics.................................................................................................................. 189 Exosome Sciences...................................................................................................................... 191 Fabric Genomics ........................................................................................................................ 192 Fluidigm Corp ............................................................................................................................. 193 Fluxion Biosciences ..................................................................................................................... 194 Foundation Medicine (now Roche) ......................................................................................... 195 Freenome.................................................................................................................................... 196 FUJIFILM Wako Diagnostics ........................................................................................................ 197
GeneFirst Ltd. .............................................................................................................................. 198 Genetron Health (Beijing) Co., Ltd............................................................................................ 199 Genomic Health......................................................................................................................... 200 GenomOncology....................................................................................................................... 202 GILUPI Nanomedizin ................................................................................................................... 203 Grail, Inc. ..................................................................................................................................... 204 Guardant Health ........................................................................................................................ 206 HalioDx ........................................................................................................................................ 207 HansaBiomed ............................................................................................................................. 208 HeiScreen.................................................................................................................................... 209 Helomics...................................................................................................................................... 210 Horizon Discovery ....................................................................................................................... 212 HTG Molecular Diagnostics........................................................................................................ 214 iCellate ........................................................................................................................................ 216 Illumina ........................................................................................................................................ 217 Incell Dx....................................................................................................................................... 218 Inivata.......................................................................................................................................... 219 Integrated Diagnostics............................................................................................................... 220 Invivogen .................................................................................................................................... 221 Invivoscribe ................................................................................................................................. 222 Janssen Diagnostics ................................................................................................................... 223 MDNA Life SCIENCES, Inc........................................................................................................... 224 MDx Health ................................................................................................................................. 225 Menarini Silicon Biosystems ........................................................................................................ 226
Miltenyi Biotec............................................................................................................................. 228 MIODx.......................................................................................................................................... 229 miR Scientific............................................................................................................................... 230 Molecular MD ............................................................................................................................. 231 MyCartis ...................................................................................................................................... 232 Myriad Genetics/Myriad RBM ................................................................................................... 233 NantHealth, Inc. ......................................................................................................................... 235 Natera ......................................................................................................................................... 237 NeoGenomics ............................................................................................................................ 239 New Oncology ........................................................................................................................... 241 Novogene Bioinformatics Technology Co., Ltd. ...................................................................... 242 Oncocyte.................................................................................................................................... 244 OncoDNA.................................................................................................................................... 245 Ortho Clinical Diagnostics ......................................................................................................... 246 Oxford Nanopore Technologies................................................................................................ 247 Panagene ................................................................................................................................... 249 Perkin Elmer ................................................................................................................................. 250 Personal Genome Diagnostics.................................................................................................. 252 Personalis..................................................................................................................................... 253 Precipio ....................................................................................................................................... 254 PrecisionMed .............................................................................................................................. 255 Promega ..................................................................................................................................... 256 Qiagen Gmbh ............................................................................................................................ 258 Rarecells SAS............................................................................................................................... 260
RareCyte ..................................................................................................................................... 262 Roche Molecular Diagnostics ................................................................................................... 263 Screencell ................................................................................................................................... 265 Sense Biodetection. ................................................................................................................... 266 Serametrix ................................................................................................................................... 267 Siemens Healthineers ................................................................................................................. 268 Silicon Biosystems........................................................................................................................ 270 simfo GmbH ................................................................................................................................ 271 Singlera Genomics Inc. .............................................................................................................. 272 Singulomics ................................................................................................................................. 273 SkylineDx...................................................................................................................................... 275 Stratos Genomics ....................................................................................................................... 276 Sysmex Inostics............................................................................................................................ 277 Tempus Labs, Inc. ....................................................................................................................... 278 Thermo Fisher Scientific Inc. ....................................................................................................... 279 Thrive Earlier Detection .............................................................................................................. 281 Todos Medical ............................................................................................................................ 282 Trovagene................................................................................................................................... 283 Volition......................................................................................................................................... 284 Vortex Biosciences ..................................................................................................................... 285
6. The Global Market for Companion Diagnostics............................................................286
6.1 Global Market Overview by Country.................................................................................. 287 6.1.1 Table – Global Market by Country................................................................................ 287 6.1.2 Chart - Global Market by Country................................................................................ 288
6.2 Global Market by Application - Overview ......................................................................... 289 6.2.1 Table – Global Market by Application ......................................................................... 289 6.2.2 Chart – Global Market by Application – 2019/2024 Comparison .............................. 290 6.2.3 Chart – Global Market by Application – 2019.............................................................. 291 6.2.4 Chart – Global Market by Application –2024............................................................... 292 6.2.5 Chart – Global Market by Application – Share by Year.............................................. 293
6.3 Global Market Funding Source - Overview........................................................................ 294 6.3.1 Table – Global Market by Funding Source................................................................... 294 6.3.2 Chart – Global Market Funding Source – 2019/2024 Comparison ............................. 295 6.3.3 Chart – Global Market Funding Source – 2019 ............................................................ 296 6.3.4 Chart – Global Market Funding Source –2024 ............................................................. 297 6.3.5 Chart – Global Market Funding Source – Share by Year ............................................ 298
7. Global Companion Diagnostic Markets – By Application ............................................299
7.1 Oncology .............................................................................................................................. 300 7.1.1 Table Oncology – by Country ....................................................................................... 300 7.1.2 Chart - Oncology Growth.............................................................................................. 301 7.2 Neurology.............................................................................................................................. 302 7.2.1 Table Neurology – by Country....................................................................................... 302 7.2.2 Chart - Neurology Growth ............................................................................................. 303 7.3 Cardiology ............................................................................................................................ 304 7.3.1 Table Cardiology – by Country ..................................................................................... 304 7.3.2 Chart - Cardiology Growth............................................................................................ 305 7.4 Other Application................................................................................................................. 306 7.4.1 Table Other Application – by Country.......................................................................... 306
7.4.2 Chart - Other Application Growth ................................................................................ 307 8. Global Companion Diagnostic Markets – Funding Source...........................................308
8.1 Global Market Pharmaceutical .......................................................................................... 309 8.1.1 Table Pharmaceutical – by Country............................................................................. 309 8.1.2 Chart - Pharmaceutical Growth ................................................................................... 310
8.2 Global Market Venture ........................................................................................................ 311 8.2.1 Table Venture – by Country........................................................................................... 311 8.2.2 Chart - Venture Growth ................................................................................................. 312
8.3 Global Market Clinical ......................................................................................................... 313 8.3.1 Table Clinical – by Country............................................................................................ 313 8.3.2 Chart - Clinical Growth .................................................................................................. 314
8.4 Global Market Other Funding ............................................................................................. 315 8.4.1 Table Other Funding – by Country................................................................................ 315 8.4.2 Chart - Other Funding Growth ...................................................................................... 316
Appendices ..........................................................................................................................317
I. United States Medicare System: January 2020 Clinical Laboratory Fees Schedule ..... 317 II. Pharmacogenomic Biomarkers in Drug Labeling ................................................................ 402

Table of Tables
Table 1 Lab Spending 2014 to 2024 ............................................................................................... 35 Table 2 Medicare Clinical Lab Expenditures Actual & Forecast 2004 to 2020 ($Billion) ............ 37 Table 3 Market Players by Type ..................................................................................................... 39 Table 4 The Base Pairs...................................................................................................................... 57 Table 5 Five Factors Driving Growth............................................................................................... 70 Table 6 Four Factors Limiting Growth ............................................................................................. 73 Table 7 Key Diagnostic Laboratory Technology Trends ............................................................... 76 Table 8 Next Generation Sequencing Technologies – Speed and Cost .................................... 77 Table 9 - Global Companion Diagnostic Market by Region...................................................... 287 Table 10 Global Market by Application....................................................................................... 289 Table 11 Global Market by Funding Source................................................................................ 294 Table 12 Oncology by Country .................................................................................................... 300 Table 13 Neurology by Country................................................................................................... 302 Table 14 Cardiology by Country .................................................................................................. 304 Table 15 Other Application by Country....................................................................................... 306 Table 16 Pharmaceutical by Country......................................................................................... 309 Table 17 Venture by Country........................................................................................................ 311 Table 18 Clinical by Country........................................................................................................ 313 Table 19 Other Funding by Country............................................................................................. 315 Table 22 Pharmacogenomic Biomarkers .................................................................................... 402

Table of Figures
Figure 1 FDA Approved Companion Diagnostics......................................................................... 28 Figure 2 Clinical Lab Spending 2014 to 2024................................................................................. 35 Figure 3 Medicare Clinical Lab Expenditures 2004 to 2020 ($Million).......................................... 36 Figure 4 DNA Strands and Chromosomes ..................................................................................... 54 Figure 5 Karyogram of Human Chromosomes.............................................................................. 55 Figure 6 Size of Various Genomes .................................................................................................. 58 Figure 7 Germline vs Somatic Mutations........................................................................................ 62 Figure 8 Comparing Genomic Diagnostic and Traditional Testing ............................................. 64 Figure 9 Percentage of World Population Over 65....................................................................... 72 Figure 10 2019 Global Market Density Chart ............................................................................... 288 Figure 11 CDx Market by Application - 2019 vs. 2024................................................................. 290 Figure 12 CDx Market by Application 2019 ................................................................................. 291 Figure 13 CDx Market by Application 2024 ................................................................................. 292 Figure 14 Application Type Share by Year................................................................................... 293 Figure 15 Funding Source - 2019 vs. 2024..................................................................................... 295 Figure 16 Funding Source Market 2019 ........................................................................................ 296 Figure 17 Funding Source Market 2024 ........................................................................................ 297 Figure 18 Funding Source Share by Year ..................................................................................... 298 Figure 19 Oncology Growth ......................................................................................................... 301 Figure 20 Neurology Growth......................................................................................................... 303 Figure 21 Cardiology Growth ....................................................................................................... 305 Figure 22 Other Application Growth............................................................................................ 307
Figure 23 Pharmaceutical Growth ............................................................................................... 310 Figure 24 Venture Growth ............................................................................................................. 312 Figure 25 Clinical Growth .............................................................................................................. 314 Figure 26 Other Funding Growth .................................................................................................. 316 Figure 27 2020 Clinical Laboratory Fee Schedule ....................................................................... 317