Table of Content


i. Genetic Testing - Strategic Situation Analysis & Impact of COVID-19 Pandemic .........21 ii. Guide for Executives, Marketing, Sales and Business Development Staff .....................24 iii. Guide for Management Consultants and Investment Advisors ....................................26 1. Introduction and Market Definition ...................................................................................28
1.1 Genetic Testing Definition in This Report............................................................................... 29 1.2 The Genomics Revolution ...................................................................................................... 30 1.3 Market Definition .................................................................................................................... 32
1.3.1 Revenue Market Size........................................................................................................ 32 1.3.1 Newborn Screening ......................................................................................................... 33 1.3.2 Non Invasise Pregnancy Testing...................................................................................... 33 1.3.3 Predictive .......................................................................................................................... 33 1.3.4 Oncology .......................................................................................................................... 33 1.3.5 Direct to Consumer .......................................................................................................... 33 1.3.6 Other Application............................................................................................................. 33 1.3.7 PCR .................................................................................................................................... 34 1.3.4 NGS.................................................................................................................................... 34 1.3.5 Cytogenetic...................................................................................................................... 34 1.3.6 Other Technology ............................................................................................................ 34
1.4 U.S. Medical Market and laboratory Testing - Perspective ................................................. 35 1.4.1 U.S. Medicare Expenditures for Laboratory Testing ....................................................... 36
2. Market Overview ................................................................................................................38
2.1 Market Participants Play Different Roles ............................................................................... 39 2.1.1 Supplier/pharmaceutical ................................................................................................ 40 2.1.2 Independent lab specialized/esoteric ........................................................................... 40 2.1.3 Independent lab national/regional................................................................................ 40 2.1.4 Independent lab analytical ............................................................................................ 41 2.1.5 Public National/regional lab ........................................................................................... 41 2.1.6 Hospital lab ....................................................................................................................... 41 2.1.7 Physician lab..................................................................................................................... 42 2.1.8 DTC Lab............................................................................................................................. 42 2.1.9 Independent Genetic Testing Lab.................................................................................. 42 2.1.10 Audit Body....................................................................................................................... 43
2.2 Genetic Tests –Types, Examples and Discussion .................................................................. 44 2.2.1 Preimplantation Genetic Diagnosis- An Emerging Market ........................................... 44 2.2.2 Prenatal Diagnosis – New Technologies Create Opportunity ...................................... 45 2.2.3 Newborn Screening ......................................................................................................... 45 2.2.2 Diagnostic Testing ............................................................................................................ 46 2.2.3 Carrier Testing ................................................................................................................... 46 2.2.6 Predictive and Presymptomatic Testing......................................................................... 47 2.2.7 Pharmacogenomics ........................................................................................................ 47 2.2.8 Forensic Testing................................................................................................................. 48 2.2.9 Parental Testing ................................................................................................................ 48 2.2.10 Ancestral Testing............................................................................................................. 48
2.3 Industry Structure .................................................................................................................... 50 2.3.1 Hospital’s Testing Share.................................................................................................... 50
2.3.2 Economies of Scale.......................................................................................................... 50 2.3.2.1 Hospital vs. Central Lab ................................................................................................ 51 2.3.3 Physician Office Lab’s...................................................................................................... 52 2.3.4 Physician’s and POCT ...................................................................................................... 52
2.4 Market Shares of Key Genetics Players - Analysis ................................................................ 53 3. Market Trends......................................................................................................................54
3.1 Factors Driving Growth........................................................................................................... 55 3.1.1 Genetic Discoveries Creating New Diagnostic Markets ............................................... 55 3.1.2 Aging Population a Boon for Diagnostics....................................................................... 56 3.1.3 Pharmacogenomics Drives Further Growth. .................................................................. 57 3.1.4 Oncology and Liquid Biopsy Enter New Era................................................................... 57 3.1.5 Fertility Practice Growth drives market........................................................................... 58 3.1.6 Direct to Consumer begins to break out........................................................................ 58
3.2 Factors Limiting Growth.......................................................................................................... 59 3.2.1 Increased Competition Lowers Price.............................................................................. 59 3.2.2 Lower Costs....................................................................................................................... 60 3.2.3 Testing usage analysis curtailing growth. ....................................................................... 60 3.2.4 Wellness has a downside ................................................................................................. 60
3.3 Instrumentation and Automation.......................................................................................... 62 3.3.1 Instruments Key to Market Share..................................................................................... 62 3.3.2 Bioinformatics Plays a Role. ............................................................................................. 62
3.4 Diagnostic Technology Development.................................................................................. 63 3.4.1 Next Generation Sequencing Fuels a Revolution.......................................................... 64 3.4.2 Impact of NGS on pricing................................................................................................ 65
3.4.3 POCT/Self Testing Disruptive Force.................................................................................. 65 3.4.4 Pharmacogenomics Blurs Diagnosis and Treatment..................................................... 66 3.4.5 CGES Testing, A Brave New World .................................................................................. 67 3.4.6 Biochips/Giant magneto resistance based assay......................................................... 67
4. Genetic Testing Recent Developments............................................................................69
4.1.1 Importance of This Section .............................................................................................. 69 4.1.2 How to Use This Section.................................................................................................... 69
Preconception Carrier Screening Trial Begins in Australia......................................................... 69
Genetic Testing Clinical Use Just Beginning............................................................................... 70
Fulgent Genetics Q1 Revenues Jump 44 Percent..................................................................... 71
Blueprint Genetics, NICER Consortium Developing Genetic Test for Immunologic, Hematologic Disorders................................................................................................................. 73
Natera Terminates Qiagen Agreement for Developing NGS-Based Genetic Tests ............... 74 Invitae Acquires Three Companies: YouScript, Genelex, Diploid............................................. 74 Thermo Fisher Scientific to Buy Qiagen for $11.5B ..................................................................... 77 PerkinElmer SCID Test Chosen for Newborn Screening Evaluation in England ....................... 78 Germline Cancer Risk Mutations Sometimes Reported in Tumor Testing................................. 79 Blueprint Genetics, Archimedlife to Launch Genetic Testing in North America ..................... 87 Invitae to Offer No-Charge Genetic Testing to Pancreatic Cancer Patients ......................... 88 Phosphorus Offers DNA Testing to Assess Disease Risk............................................................... 89 Arivale Shuts Down Personalized Wellness Business ................................................................... 91 ArcherDX Acquires Baby Genes ................................................................................................. 92 MDxHealth, LifeLabs Ink Distribution Agreement for Prostate Cancer Assay .......................... 93 Thermo Fisher Purchases 9 Percent Stake in Yourgene Health................................................. 94
Invitae Partners to Expand Free Epilepsy Genetic Testing Program......................................... 95 Illumina, Chinese Firm Partner on NGS System for Genetic Disease Dx ................................... 96 NanoString Technologies Prices $103.5M Common Stock Offering ......................................... 97 Canine Consumer Genomics Firm Embark Veterinary Raises $10M ........................................ 98 Yourgene Health to Acquire Elucigene...................................................................................... 98 Helix, AdventHealth Partner on Genetic Screening Study........................................................ 99 Qiagen, NeuMoDx Ink Partnership, Merger Agreement ......................................................... 100
5. Profiles of Key Companies ..............................................................................................102
10x Genomics, Inc................................................................................................................... 103 23andME Inc............................................................................................................................ 104 Abbott Diagnostics ................................................................................................................. 106 AccuraGen Inc. ...................................................................................................................... 108 Adaptive Biotechnologies...................................................................................................... 109 Admera Health, LLC................................................................................................................ 110 Agena Bioscience, Inc............................................................................................................ 111 Agilent...................................................................................................................................... 113 Akonni Biosystems ................................................................................................................... 115 Ancestry.com LLC ................................................................................................................... 116 Anchor Dx ................................................................................................................................ 118 ArcherDx, Inc. .......................................................................................................................... 119 ARUP Laboratories................................................................................................................... 120 Asuragen.................................................................................................................................. 122 Baylor Miraca Genetics Laboratories .................................................................................... 124 Beckman Coulter, Inc. ............................................................................................................ 125
Becton, Dickinson and Company ......................................................................................... 127 BGI Genomics Co. Ltd ............................................................................................................ 129 Bioarray Genetics.................................................................................................................... 131 Biocept, Inc.............................................................................................................................. 132 Biodesix Inc. ............................................................................................................................. 133 BioFluidica................................................................................................................................ 134 BioGenex ................................................................................................................................. 135 Biolidics Ltd............................................................................................................................... 137 bioMérieux Diagnostics........................................................................................................... 138 Bioneer Corporation ............................................................................................................... 140 Bio-Rad Laboratories, Inc. ...................................................................................................... 142 Bio-Techne ............................................................................................................................... 144 Cancer Genetics..................................................................................................................... 146 Caris Molecular Diagnostics ................................................................................................... 148 CellMax Life ............................................................................................................................. 149 Centogene.............................................................................................................................. 150 Chronix Biomedical................................................................................................................. 154 Circulogene............................................................................................................................. 155 Clinical Genomics................................................................................................................... 156 Color Genomics ...................................................................................................................... 157 Complete Genomics, Inc. – A BGI Company ...................................................................... 158 Cynvenio.................................................................................................................................. 160 Dante Labs .............................................................................................................................. 161 Datar Cancer Genetics Limited............................................................................................. 163
Diasorin S.p.A........................................................................................................................... 164 Epic Sciences........................................................................................................................... 165 Epigenomics AG ..................................................................................................................... 166 Eurofins Scientific ..................................................................................................................... 167 Excellerate Bioscience............................................................................................................ 170 Exosome Diagnostics .............................................................................................................. 171 Fabric Genomics..................................................................................................................... 173 Fluidigm Corp .......................................................................................................................... 174 Foundation Medicine ............................................................................................................. 176 Freenome................................................................................................................................. 177 FUJIFILM Wako Diagnostics..................................................................................................... 178 Fujirebio.................................................................................................................................... 179 GE Global Research ............................................................................................................... 180 GE Healthcare Life Sciences .................................................................................................. 182 Gene by Gene, Ltd................................................................................................................. 184 Genedrive................................................................................................................................ 186 GeneFirst Ltd............................................................................................................................ 187 Genetron Health (Beijing) Co., Ltd. ....................................................................................... 188 Genewiz ................................................................................................................................... 189 Genomic Health...................................................................................................................... 190 Genomics England ................................................................................................................. 192 Genomics Personalized Health (GPH)................................................................................... 194 GenomOncology.................................................................................................................... 196 Genzyme Corporation............................................................................................................ 197
Grail, Inc................................................................................................................................... 199 Grifols........................................................................................................................................ 201 Guardant Health ..................................................................................................................... 202 Guardiome .............................................................................................................................. 203 HeiScreen................................................................................................................................. 205 Helix .......................................................................................................................................... 206 Helomics................................................................................................................................... 208 Hologic..................................................................................................................................... 209 Horizon Discovery .................................................................................................................... 211 HTG Molecular Diagnostics .................................................................................................... 213 Human Longevity, Inc............................................................................................................. 215 iCellate..................................................................................................................................... 217 Illumina ..................................................................................................................................... 218 Incell Dx.................................................................................................................................... 219 Inivata ...................................................................................................................................... 220 Integrated Diagnostics ........................................................................................................... 221 Invitae Corporation................................................................................................................. 222 Invivoscribe.............................................................................................................................. 224 Karius ........................................................................................................................................ 225 Macrogen................................................................................................................................ 226 MDNA Life SCIENCES, Inc........................................................................................................ 227 MDx Health .............................................................................................................................. 228 Medgenome ........................................................................................................................... 229 Meridian Bioscience................................................................................................................ 230
Mesa Biotech........................................................................................................................... 232 MIODx....................................................................................................................................... 233 miR Scientific............................................................................................................................ 234 MNG Labs ................................................................................................................................ 235 Molecular MD .......................................................................................................................... 236 NantHealth, Inc. ...................................................................................................................... 237 Natera...................................................................................................................................... 239 Nebula Genomics................................................................................................................... 241 NeoGenomics ......................................................................................................................... 242 New Oncology ........................................................................................................................ 244 Novogene Bioinformatics Technology Co., Ltd.................................................................... 245 Omega Bioservices ................................................................................................................. 247 OncoDNA ................................................................................................................................ 249 ORIG3N, Inc. ............................................................................................................................ 250 Origene Technologies............................................................................................................. 252 Oxford Nanopore Technologies ............................................................................................ 253 Pacific Biosciences.................................................................................................................. 256 Panagene................................................................................................................................ 257 Perkin Elmer.............................................................................................................................. 258 Personal Genome Diagnostics............................................................................................... 260 Personalis ................................................................................................................................. 261 Precipio .................................................................................................................................... 262 PrecisionMed........................................................................................................................... 263 Promega .................................................................................................................................. 264
Protagen Diagnostics.............................................................................................................. 266 Qiagen Gmbh ......................................................................................................................... 267 Quantumdx ............................................................................................................................. 270 Regeneron............................................................................................................................... 271 Roche Molecular Diagnostics ................................................................................................ 273 Roswell Biotechnologies ......................................................................................................... 275 Seegene .................................................................................................................................. 276 Sequencing.com..................................................................................................................... 278 Siemens Healthineers .............................................................................................................. 280 simfo GmbH............................................................................................................................. 282 Singlera Genomics Inc............................................................................................................ 283 SkylineDx .................................................................................................................................. 284 Stratos Genomics .................................................................................................................... 285 Sure Genomics, Inc. ................................................................................................................ 286 Sysmex...................................................................................................................................... 288 Sysmex Inostics ........................................................................................................................ 289 Tempus Labs, Inc. .................................................................................................................... 291 Thermo Fisher Scientific Inc..................................................................................................... 292 Veritas Genetics ...................................................................................................................... 294 Volition ..................................................................................................................................... 296
6. Global Market Size............................................................................................................297
6.1 Global Market by Country................................................................................................... 298 6.1.1 Table – Global Market by Country................................................................................ 298 6.1.2 Chart – Key Country Densities ....................................................................................... 299
6.2 Global Market by Application............................................................................................. 300 6.2.1 Table – Global Market by Application ......................................................................... 300 6.2.2 Chart – Application Share by Year ............................................................................... 301 6.2.3 Chart – Application Segment Growth Rates ............................................................... 302 6.2.4 Chart – Application Segment Share Shifts.................................................................... 303 6.2.5 Chart – Application Segment Share Base Year ........................................................... 304 6.2.6 Chart – Application Segment Share Final Year ........................................................... 305
6.3 Global Market by Technology............................................................................................. 306 6.3.1 Table – Global Market by Technology ......................................................................... 306 6.3.2 Chart – Technology Share by Year ............................................................................... 307 6.3.3 Chart – Technology Segment Growth Rates ............................................................... 308 6.3.4 Chart – Technology Segment Share Shifts.................................................................... 309 6.3.5 Chart – Technology Segment Share Base Year ........................................................... 310 6.3.6 Chart – Technology Segment Share Final Year ........................................................... 311
7. Market Sizes by Application............................................................................................312
7.1 Newborn Testing Market ...................................................................................................... 313 7.1.1 Table Newborn – by Country......................................................................................... 313 7.1.2 Chart – Newborn Growth .............................................................................................. 314 7.2 NIPT Market ........................................................................................................................... 315 7.2.1 Table NIPT – by Country ................................................................................................. 315 7.2.2 Chart – NIPT Growth ....................................................................................................... 316 7.3 Predictive Testing Market..................................................................................................... 317 7.3.1 Table Predictive – by Country ....................................................................................... 317 7.3.2 Chart – Predictive Growth ............................................................................................. 318
7.4 Oncology Testing Market..................................................................................................... 319 7.4.1 Table Oncology – by Country ....................................................................................... 319 7.4.2 Chart – Oncology Growth ............................................................................................. 320
7.5 DTC Testing Market............................................................................................................... 321 7.5.1 Table DTC – by Country ................................................................................................. 321 7.5.2 Chart – DTC Growth ....................................................................................................... 322
7.6 Other Testing Market ............................................................................................................ 323 7.6.1 Table Other – by Country .............................................................................................. 323 7.6.2 Chart – Other Growth .................................................................................................... 324
8. Global Genetic Testing Market by Technology .............................................................325
8.1 PCR Testing Market............................................................................................................... 326 8.1.1 Table PCR – by Country ................................................................................................. 326 8.1.2 Chart – PCR Growth ....................................................................................................... 327 8.2 NGS Market........................................................................................................................... 328 8.2.1 Table NGS – by Country................................................................................................. 328 8.2.2 Chart – NGS Growth....................................................................................................... 329 8.3 Cytogenetic Testing Market ................................................................................................ 330 8.3.1 Table Cytogenetic – by Country................................................................................... 330 8.3.2 Cytogenetic – Predictive Growth ................................................................................. 331 8.4 Other Testing Market ............................................................................................................ 332 8.4.1 Table Other – by Country .............................................................................................. 332 8.4.2 Chart – Other Growth .................................................................................................... 333
9. The Future of Genetic Testing ..........................................................................................334 Appendices ..........................................................................................................................335
I. United States Medicare System: January 2020 laboratory Fees Schedule ......................... 335 II Methodology ........................................................................................................................... 427 II.1 Authors................................................................................................................................ 427 II.2 Sources ............................................................................................................................... 427
 

Table of Tables
Table 1 Most Common Traditional Genetic Disorders .................................................................. 30 Table 2 Lab Spending 2014 to 2024 ............................................................................................... 37 Table 3 Market Players by Type ..................................................................................................... 39 Table 4 The Different Types of Genetic Tests ................................................................................. 44 Table 5 Five Factors Driving Growth............................................................................................... 55 Table 6 Four Factors Limiting Growth ............................................................................................. 59 Table 7 Key Diagnostic Laboratory Technology Trends ............................................................... 63 Table 8 Next Generation Sequencing Technologies – Speed and Cost .................................... 64 Table 9 Global Market by Country............................................................................................... 298 Table 10 Global Market by Application....................................................................................... 300 Table 11 Global Market by Technology ...................................................................................... 306 Table 12 Newborn Segment by Country ..................................................................................... 313 Table 13 NIPT Segment by Country .............................................................................................. 315 Table 14 Predictive Segment by Country.................................................................................... 317 Table 15 Oncology Segment by Country.................................................................................... 319 Table 16 DTC Segment by Country .............................................................................................. 321 Table 17 Other Segment by Country ........................................................................................... 323 Table 18 PCR Segment by Country.............................................................................................. 326 Table 19 NGS Segment by Country.............................................................................................. 328 Table 20 Cytogenetic Segment by Country ............................................................................... 330 Table 21 Other Segment by Country ........................................................................................... 332

Table 22 2020 CLINICAL LAB FEE SCHEDULE................................................................................. 335

Table of Figures
Figure 1 Clinical Lab Spending 2014 to 2024................................................................................. 36 Figure 2 Top Ten Sequencing Companies..................................................................................... 53 Figure 3 Percentage of World Population Over 65....................................................................... 56 Figure 4 Key Countries................................................................................................................... 299 Figure 5 Application Share by Year.............................................................................................. 301 Figure 6 Application Segment Growth Rates.............................................................................. 302 Figure 7 Segment Share Shifts ...................................................................................................... 303 Figure 8 Application Segment Share Base Year ........................................................................ 304 Figure 9 Application Segment Share Final Year......................................................................... 305 Figure 10 Technology Share by Year............................................................................................ 307 Figure 11 Technology Segment Growth Rates............................................................................ 308 Figure 12 Technology Segment Share Shifts ............................................................................... 309 Figure 13 Technology Segment Share Base Year ...................................................................... 310 Figure14 TechnologySegmentShareFinalYear.......................................................................311 Figure 15 Newborn vs. Total Market Growth ............................................................................... 314 Figure 16 NIPT vs. Total Market Growth ........................................................................................ 316 Figure 17 Predictive vs. Total Market Growth .............................................................................. 318 Figure 18 Oncology vs. Total Market Growth .............................................................................. 320 Figure 19 DTC vs. Total Market Growth ........................................................................................ 322 Figure 20 Other vs. Total Market Growth ..................................................................................... 324 Figure 21 PCR vs. Total Market Growth ........................................................................................ 327
Figure 22 NGS vs. Total Market Growth........................................................................................ 329 Figure 23 Cytogenetic vs. Total Market Growth.......................................................................... 331 Figure 24 Other vs. Total Market Growth ..................................................................................... 333