Table of Content

i.  Whole Genome Sequencing Market - Strategic Situation Analysis & COVID Impact .. 19
ii.  Guide for Executives, Marketing, Sales and Business Development Staff ..................... 21
iii.  Guide for Management Consultants and Investment Advisors .................................... 23
1. Introduction and Market Definition ................................................................................... 25
1.1 Whole Genome Sequencing Definition In This Report ......................................................... 26
1.1.1 Whole and Exome Sequencing ...................................................................................... 26
1.1.2 Research and Clinical ...................................................................................................... 27
1.1.3 Clinical Tumor ................................................................................................................... 27
1.1.4 Clinical Pathogen ............................................................................................................. 27
1.1.5 Agri/Other ......................................................................................................................... 27
1.1.6 Direct to Consumer .......................................................................................................... 27
1.2 The Genomics Revolution ...................................................................................................... 28
1.3 Market Definition .................................................................................................................... 30
1.3.1 Revenue Market Size ........................................................................................................ 30
1.4 U.S. Medical Market and laboratory Testing - Perspective ................................................. 32
1.4.1 U.S. Medicare Expenditures for laboratory testing ........................................................ 32
1.5 Sizing the Genome – Not What You Think ............................................................................ 34
1.5.1 Cost, Price and Genome Size, Pricing Practice ............................................................. 35
1A GLOBAL LISTING OF HIGH THROUGHPUT SEQUENCING ESTABLISHMENTS INSTALLED BASE – Location & Contacts .................................. 36

2. Market Overview .............................................................................................................. 122
2.1 Market Participants Play Different Roles ............................................................................. 123
2.1.1 Instrument Manufacturer ............................................................................................... 124
2.1.2 Independent lab specialized/esoteric ......................................................................... 124
2.1.3 Independent lab national/regional .............................................................................. 124
2.1.4 Independent lab analytical .......................................................................................... 125
2.1.5 Public National/regional lab ......................................................................................... 125
2.1.6 Hospital lab ..................................................................................................................... 125
2.1.7 Physician lab ................................................................................................................... 126
2.1.8 DTC Lab ........................................................................................................................... 126
2.1.9 Sequencing Labs ............................................................................................................ 126
2.1.10 Audit body .................................................................................................................... 127
2.2 Whole Genome Sequencing –Markets, Examples and Discussion................................... 128
2.2.1 Direct to Consumer – Two Approaches ....................................................................... 128
2.2.1.1 The New Age of Medical Information .................................................................. 128
2.2.1.2 Dangers in  DTC-WGS – Health Costs and Regulation ........................................ 129
2.2.1.3 Newborn and Prenatal – A Brave New World ..................................................... 130
2.2.1.4 DTC – How Many Segments? ................................................................................ 130
2.2.2 Research Markets ........................................................................................................... 136
2.2.2.1  Research Funding and Capital Expense ............................................................. 136
2.2.2.2  WGS Datasets Preferred ....................................................................................... 136
2.2.2.3  Existing research repurposed ............................................................................... 136
2.2.2.4  Organism Wide Market ......................................................................................... 137
2.2.2.5  Service Suppliers Respond .................................................................................... 137
2.2.3 Clinical – Understanding Germline and Somatic ........................................................ 138
2.2.3.1 Somatic – Chasing Mutations and Pharmacogenomics .................................... 138
2.2.4 Pathogen Testing ............................................................................................................ 139
2.2.4.1 The Hepatitis C Story .............................................................................................. 139
2.2.4.2 Will the Microbiology Department Disappear? ................................................... 140
2.2.5 AgriBio – Big Business ...................................................................................................... 141
2.2.5.1 GMO is Here to Stay ............................................................................................... 141
2.2.5.2 WGS Benefits and Risks........................................................................................... 142
2.2.5.3 The New Agriculture ............................................................................................... 142
2.3 Industry Structure .................................................................................................................. 144
2.3.1 Hospital’s Testing Share .................................................................................................. 144
2.3.2 Economies of Scale ........................................................................................................ 144
2.3.3 Instrument Manufacturer Role ....................................................................................... 144
2.3.4 Healthcare Industry Impacts – Still Struggling ............................................................... 145
2.3.4.1 Can the Healthcare Industry Adapt? ................................................................... 145
2.3.4.2 Genetic Counselling as an Industry ...................................................................... 146
2.3.4.3 WGES Adoption and Cannibalization .................................................................. 146
2.3.4.4 The Meaning of Grail.............................................................................................. 147

3. Market Trends .................................................................................................................... 148
3.1 Factors Driving Growth ......................................................................................................... 149
3.1.1 Diagnostic Factors .......................................................................................................... 149
3.1.2 Interpreting the Code Otherwise .................................................................................. 150
3.1.3 Changes in Agriculture .................................................................................................. 150
3.1.4 Fertility Technology Comes of Age ............................................................................... 150
3.1.5 Pathogen Challenges .................................................................................................... 150
3.2 Factors Limiting Growth ........................................................................................................ 151
3.2.1 Increased Competition Lowers Price ............................................................................ 151
3.2.2 Lower Costs ..................................................................................................................... 152
3.2.3 Healthcare Cost Concerns Curtail Growth .................................................................. 153
3.2.4 Wellness has a downside ............................................................................................... 153
3.2.5 GMO Opposition Movement ........................................................................................ 153
3.3 Sequencing Instrumentation ............................................................................................... 154
3.3.1 Instrumentation Tenacity ............................................................................................... 154
3.3.2 Declining Cost Changes Industry Structure .................................................................. 154
3.3.3 LISTING of CURRENT NGS INSTRUMENT SPECIFICATIONS .............................................. 155
3.3.4 Illumina ............................................................................................................................ 157
3.3.5 ION ................................................................................................................................... 157
3.3.6 Pacific Biosystems ........................................................................................................... 158
3.3.7 Roche 454 ....................................................................................................................... 158
3.3.8 SOLiD ............................................................................................................................... 158
3.3.9 Oxford Nanopore ........................................................................................................... 158
3.3.9.1 What is Oxford Nanopore Sequencing? .............................................................. 158
3.3.9.2 What can Oxford Nanopore Sequencingt be used for? .................................... 159
3.3.9.3 Oxford Nanopore Products ................................................................................... 159
3.3.10 Long Reads – Further Segmentation ........................................................................... 160
3.3.11 Linked Reads ................................................................................................................. 160
3.3.12 Targeted Sequencing Adopts CRISPR ........................................................................ 160
3.3.13  New Sequencing Technologies ................................................................................. 161
3.3.13.1 RNAP sequencing ................................................................................................. 161
3.3.13.2 In vitro virus high-throughput sequencing .......................................................... 162
3.3.13.3 Tunnelling currents DNA sequencing .................................................................. 162
3.3.13.4 Sequencing by hybridization ............................................................................... 162
3.3.13.5 Sequencing with mass spectrometry .................................................................. 163
3.3.13.6 Microfluidic Sanger sequencing ......................................................................... 163
3.3.13.7 Microscopy-based techniques ........................................................................... 164

4. WGES Recent Developments .......................................................................................... 165
4.1 Recent Developments – Importance and How to Use This Section ................................. 166
4.1.1 Importance of These Developments ............................................................................ 166
4.1.2 How to Use This Section .................................................................................................. 166
Illumina Achieves First FDA EAU for NGS-Based SARS-CoV-2 Test ........................................... 166
C2i Genomics to Launch Trials for MRD Detection Tech ......................................................... 167
Roche Acquires Sequencing Company Stratos Genomics .................................................... 169
UK COVID-19 Sequencing Consortium Launches With £20M in Government, Wellcome Trust Funding..................... 170
Invitae Acquires Three Companies: YouScript, Genelex, Diploid ........................................... 171
Experience From Centralized Genomic Medicine Lab ........................................................... 173
MGI to Enable $100 Human Genome ...................................................................................... 177
Nebula Genomics offers  $299 WGS ......................................................................................... 179
Team to Study Campylobacter Omics ..................................................................................... 180
Veritas Genetics Restarts US Business ........................................................................................ 181
NEOGEN, Gencove partner to advance animal genomics .................................................. 182
UK Whole-Genome Sequencing Project Obtains £200M ........................................................ 183
WGS may help with disease outbreaks .................................................................................... 184
Veritas Cuts WGS Price by 40% .................................................................................................. 185
Dante Labs Launches GenomeL, Long Reads Human Whole Genome Sequencing ......... 186
Machine-learning system used to diagnose genetic diseases .............................................. 187
Whole Genome Sequencing for healthy creates controversy .............................................. 189
100,000 whole genomes sequenced in the NHS ..................................................................... 192
Nebula Genomics Offers FREE Whole Genome Sequencing ................................................. 192
Veritas Genetics has time limited WGS offer for $199 ............................................................. 194
Veritas Genetics Launches Two New Whole Genome Sequencing Products ...................... 194
BGI unveils a powerful new sequencer .................................................................................... 196
State of California Funds $2M Whole-Genome Sequencing Pilot .......................................... 199

5.  Profiles of Key Companies .............................................................................................. 200
10x Genomics, Inc. ..................................................................................................................... 201
23andME Inc. .............................................................................................................................. 202
Abbott Diagnostics ..................................................................................................................... 204
AccuraGen Inc. .......................................................................................................................... 206
Adaptive Biotechnologies ......................................................................................................... 207
Admera Health, LLC ................................................................................................................... 208
Agena Bioscience, Inc. .............................................................................................................. 209
Agilent ......................................................................................................................................... 211
Akonni Biosystems ....................................................................................................................... 213
Ancestry.com LLC ...................................................................................................................... 214
Anchor Dx ................................................................................................................................... 216
ArcherDx, Inc. ............................................................................................................................. 217
ARUP Laboratories ...................................................................................................................... 218
Asuragen ..................................................................................................................................... 220
Baylor Miraca Genetics Laboratories ....................................................................................... 222
Beckman Coulter Diagnostics ................................................................................................... 223
Becton, Dickinson and Company ............................................................................................. 224
BGI Genomics Co. Ltd ............................................................................................................... 226
Bioarray Genetics ....................................................................................................................... 228
Biocept, Inc. ................................................................................................................................ 229
Biodesix Inc. ................................................................................................................................ 230
BioFluidica ................................................................................................................................... 231
BioGenex ..................................................................................................................................... 232
Biolidics Ltd .................................................................................................................................. 234
bioMérieux Diagnostics .............................................................................................................. 235
Bioneer Corporation ................................................................................................................... 237
Bio-Rad Laboratories, Inc. .......................................................................................................... 239
Bio-Techne .................................................................................................................................. 241
C2i Genomics ............................................................................................................................. 243
Cancer Genetics ........................................................................................................................ 244
Caris Molecular Diagnostics ...................................................................................................... 246
CellMax Life ................................................................................................................................. 247
Centogene ................................................................................................................................. 248
Chronix Biomedical .................................................................................................................... 250
Circulogene ................................................................................................................................ 251
Clear Labs ................................................................................................................................... 252
Clinical Genomics ...................................................................................................................... 253
Complete Genomics, Inc. – A BGI Company .......................................................................... 254
Cynvenio ..................................................................................................................................... 256
Dante Labs .................................................................................................................................. 257
Datar Cancer Genetics Limited ................................................................................................ 259
Day Zero Diagnostics ................................................................................................................. 260
Diasorin S.p.A. ............................................................................................................................. 261
Epic Sciences .............................................................................................................................. 262
Epigenomics AG ......................................................................................................................... 263
Eurofins Scientific ........................................................................................................................ 264
Excellerate Bioscience ............................................................................................................... 267
Exosome Diagnostics .................................................................................................................. 268
Fabric Genomics ........................................................................................................................ 270
Fluidigm Corp ............................................................................................................................. 271
Freenome .................................................................................................................................... 272
FUJIFILM Wako Diagnostics ........................................................................................................ 273
Fujirebio ....................................................................................................................................... 274
Fulgent Genetics ........................................................................................................................ 275
GE Global Research ................................................................................................................... 276
GE Healthcare Life Sciences ..................................................................................................... 277
Gencove ..................................................................................................................................... 279
Genedrive ................................................................................................................................... 280
GeneFirst Ltd. .............................................................................................................................. 281
Genetron Health (Beijing) Co., Ltd. ........................................................................................... 282
Genewiz ...................................................................................................................................... 283
Genomic Health ......................................................................................................................... 284
Genomics England ..................................................................................................................... 286
Genomics Personalized Health (GPH) ...................................................................................... 288
GenomOncology ....................................................................................................................... 290
Genzyme Corporation ............................................................................................................... 291
Grail, Inc. ..................................................................................................................................... 293
Grifols ........................................................................................................................................... 295
Guardant Health ........................................................................................................................ 296
Guardiome ................................................................................................................................. 297
HeiScreen .................................................................................................................................... 299
Helix ............................................................................................................................................. 301
Helomics ...................................................................................................................................... 303
Hologic ........................................................................................................................................ 304
Horizon Discovery ....................................................................................................................... 306
HTG Molecular Diagnostics ........................................................................................................ 308
Human Longevity, Inc. ............................................................................................................... 310
iCellate ........................................................................................................................................ 312
Illumina ........................................................................................................................................ 313
Incell Dx ....................................................................................................................................... 314
Inivata .......................................................................................................................................... 315
Invitae Corporation .................................................................................................................... 316
Invivoscribe ................................................................................................................................. 318
Karius ........................................................................................................................................... 319
Macrogen ................................................................................................................................... 320
MDNA Life SCIENCES, Inc. .......................................................................................................... 321
MDx Health ................................................................................................................................. 322
Medgenome............................................................................................................................... 324
Meridian Bioscience ................................................................................................................... 325
Mesa Biotech .............................................................................................................................. 327
MIODx .......................................................................................................................................... 328
miR Scientific ............................................................................................................................... 329
MNG Labs ................................................................................................................................... 330
Molecular MD ............................................................................................................................. 331
NantHealth, Inc. ......................................................................................................................... 332
Natera ......................................................................................................................................... 334
Nebula Genomics ...................................................................................................................... 336
NeoGenomics ............................................................................................................................ 337
New Oncology ........................................................................................................................... 339
Novogene Bioinformatics Technology Co., Ltd. ...................................................................... 340
Omega Bioservices .................................................................................................................... 342
OncoDNA.................................................................................................................................... 344
OpGen ........................................................................................................................................ 345
ORIG3N, Inc. ............................................................................................................................... 347
Origene Technologies ................................................................................................................ 349
Oxford Nanopore Technologies ................................................................................................ 350
Panagene ................................................................................................................................... 351
Perkin Elmer ................................................................................................................................. 352
Personal Genome Diagnostics .................................................................................................. 354
Personalis ..................................................................................................................................... 355
Precipio ....................................................................................................................................... 356
PrecisionMed .............................................................................................................................. 357
Promega ..................................................................................................................................... 358
Protagen Diagnostics ................................................................................................................. 360
Qiagen Gmbh ............................................................................................................................ 361
Quantumdx ................................................................................................................................. 363
Regeneron .................................................................................................................................. 364
Roche Molecular Diagnostics ................................................................................................... 366
Roswell Biotechnologies ............................................................................................................. 368
Seegene ...................................................................................................................................... 369
Sequencing.com ........................................................................................................................ 371
Siemens Healthineers ................................................................................................................. 373
simfo GmbH ................................................................................................................................ 375
Singlera Genomics Inc. .............................................................................................................. 376
SkylineDx ...................................................................................................................................... 377
Stratos Genomics ....................................................................................................................... 378
Sure Genomics, Inc. ................................................................................................................... 379
Sysmex ......................................................................................................................................... 381
Sysmex Inostics ............................................................................................................................ 383
Tempus Labs, Inc. ....................................................................................................................... 384
Thermo Fisher Scientific Inc. ....................................................................................................... 385
Veritas Genetics ......................................................................................................................... 386
Volition ......................................................................................................................................... 388

6.  The Global Market for Whole Genome Sequencing .................................................... 389
6.1 Global Market Overview by Country .................................................................................. 390
6.1.1 Table – Global Market by Country ................................................................................ 390
6.1.2 Chart - Global Market by Country ................................................................................ 391
6.2 Global Market by Application - Overview ......................................................................... 392
6.2.1 Table – Global Market by Application ......................................................................... 392
6.2.2 Chart – Global Market by Application – Base/Final Year Comparison ..................... 393
6.2.3 Chart – Global Market by Application – Base Year .................................................... 394
6.2.4 Chart – Global Market by Application – Final Year ..................................................... 395
6.2.5 Chart – Global Market by Application – Share by Year .............................................. 396
6.2.6 Chart – Global Market by Application – Segment Growth ........................................ 397
6.3 Global Market Organism - Overview .................................................................................. 398
6.3.1 Table – Global Market by Organism ............................................................................. 398
6.3.2 Chart – Global Market by Organism – Base/Final Year Comparison ......................... 399
6.3.3 Chart – Global Market by Organism – Base Year ........................................................ 400
6.3.4 Chart – Global Market by Organism – Final Year ........................................................ 401
6.3.5 Chart – Global Market by Organism – Share by Year ................................................. 402
6.3.6 Chart – Global Market by Organism – Segment Growth ............................................ 403

7. Global Whole Genome Sequencing Markets – By Application ................................... 404
7.1 Research ............................................................................................................................... 405
7.1.1 Table Research – by Country ........................................................................................ 405
7.1.2 Chart - Research Growth ............................................................................................... 406
7.2 Clinical Human ..................................................................................................................... 407
7.2.1 Table Clinical Human – by Country .............................................................................. 407
7.2.2 Chart - Clinical Human Growth ..................................................................................... 408
7.3 Clinical Tumor ....................................................................................................................... 409
7.3.1 Table Clinical Tumor – by Country ................................................................................ 409
7.3.2 Chart - Clinical Tumor Growth ....................................................................................... 410
7.4 Clinical Pathogen ................................................................................................................. 411
7.4.1 Table Clinical Pathogen – by Country .......................................................................... 411
7.4.2 Chart - Clinical Pathogen Growth ................................................................................ 412
7.5 Direct to Consumer .............................................................................................................. 413
7.5.1 Table Direct to Consumer – by Country ....................................................................... 413
7.5.2 Chart – Direct to Consumer Growth ............................................................................. 414
7.6 Agriculture/Other ................................................................................................................. 415
7.6.1 Table Agriculture/Other – by Country .......................................................................... 415
7.6.2 Chart – Agriculture/Other Growth ................................................................................ 416

8. Global Whole Genome Sequencing Markets – by Organism ...................................... 417
8.1 Human ................................................................................................................................... 418
8.1.1 Table Human – by Country ............................................................................................ 418
8.1.2 Chart - Human Growth .................................................................................................. 419
8.2 Pathogen .............................................................................................................................. 420
8.2.1 Table Pathogen – by Country ....................................................................................... 420
8.2.2 Chart - Pathogen Growth .............................................................................................. 421
8.3 Other Organism .................................................................................................................... 422
8.3.1 Table Other Organism – by Country ............................................................................. 422
8.3.2 Chart - Other Organism Growth ................................................................................... 423
9. Vision of the Future of Whole Genome Sequencing ..................................................... 424
Appendices .......................................................................................................................... 425
I. United States Medicare System: January 2020 laboratory Fees Schedule ......................... 425
II The Whole Genome Sequence of SARS-CoV-2 .................................................................... 491
III Methodology ........................................................................................................................... 527
II.1 Authors ................................................................................................................................ 527
II.2 Sources ............................................................................................................................... 527

List of Tables

Table 1  The Base Pairs ..................................................................................................................... 26
Table 2 Most Common Traditional Genetic Disorders .................................................................. 28
Table 3 Lab Spending 2014 to 2024 ............................................................................................... 33
Table 4 List of GLOBAL SEQUENCING LOCATIONS ........................................................................ 37
Table 5  Market Players by Type ................................................................................................... 123
Table 6 The Different Markets for Whole Genome Sequencing ................................................ 128
Table 7 DTC Sub Segments ........................................................................................................... 131
Table 8  Roles of WGS in AgriBio ................................................................................................... 141
Table 9 The Factors Driving Growth .............................................................................................. 149
Table 10 Factors Limiting Growth ................................................................................................. 151
Table 11 - Listing of Current NGS Instrument Specifications ....................................................... 155
Table 12 Six New Sequencing Technologies ............................................................................... 161
Table 13 - Global Companion Diagnostic Market by Region .................................................... 390
Table 14 Global Market by Application....................................................................................... 392
Table 15 Global Market by Organism .......................................................................................... 398
Table 16 Research by Country ..................................................................................................... 405
Table 17  Clinical Human by Country .......................................................................................... 407
Table 18 Clinical Tumor by Country.............................................................................................. 409
Table 19 Clinical Pathogen by Country ....................................................................................... 411
Table 20 Direct to Consumer by Country .................................................................................... 413
Table 21 Agriculture/Other by Country ....................................................................................... 415
Table 22 Human by Country ......................................................................................................... 418
Table 23  Pathogen by Country ................................................................................................... 420
Table 24 Other Organism by Country .......................................................................................... 422
Table 25 2020 Clinical Lab Fee Schedule .................................................................................... 425

List of Figures



Figure 1 Clinical Lab Spending 2014 to 2024 ................................................................................. 32
Figure 2 Size of Genome for Various Species ................................................................................ 34
Figure 3 - Cost To Sequence a Human Genome ........................................................................ 152
Figure 4 Base Year Country Market Share Chart ........................................................................ 391
Figure 5 CDx Market by Application - Base vs. Final Year .......................................................... 393
Figure 6 CDx Market by Application Base Year .......................................................................... 394
Figure 7 CDx Market by Application Final Year .......................................................................... 395
Figure 8 Application Type Share by Year..................................................................................... 396
Figure 9 by Application Segment Growth ................................................................................... 397
Figure 10 by Organism – Base vs. Final Year ................................................................................ 399
Figure 11 by Organism Market Base Year .................................................................................... 400
Figure 12 by Organism Market Final Year .................................................................................... 401
Figure 13 by Organism Share by Year .......................................................................................... 402
Figure 14 by Organism Segment Growth .................................................................................... 403
Figure 15 Research Growth ........................................................................................................... 406
Figure 16 Clinical Human Growth ................................................................................................. 408
Figure 17 Clinical Tumor Growth ................................................................................................... 410
Figure 18 Clinical Pathogen Growth ............................................................................................ 412
Figure 19 Direct to Consumer Growth ......................................................................................... 414
Figure 20 Agriculture/Other Growth ............................................................................................. 416
Figure 21 Human Growth .............................................................................................................. 419
Figure 22 Pathogen Growth .......................................................................................................... 421
Figure 23 Other Organism Growth ............................................................................................... 423