Table of Content

i.  Human Gene Sequencing Markets - Strategic Situation Analysis & COVID Impact.....18
ii.  Guide for Executives, Marketing, Sales and Business Development Staff .....................20
iii.  Guide for Management Consultants and Investment Advisors ....................................22
1. Introduction and Market Definition...................................................................................24
1.1 Gene Sequencing Definition In This Report .......................................................................... 25
1.1.1 Gene Sequencing............................................................................................................ 26
1.1.2 Hereditary ......................................................................................................................... 27
1.1.3 Newborn Screening ......................................................................................................... 27
1.1.4 Non Invasise Prenatal Testing .......................................................................................... 27
1.1.5 Oncology .......................................................................................................................... 27
1.1.6 Pharmacogenomic.......................................................................................................... 27
1.1.7 Direct to Consumer .......................................................................................................... 28
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 Genetic Testing vs. Gene Sequencing ................................................................................. 34
1.5.1 Cost and Pricing Practice................................................................................................ 35

1A Global Listing of Sequencer Installed Base  Location & Contacts..............................37
1A.1 Notes to Installed Base Listing ............................................................................................. 37

2. Market Overview ..............................................................................................................145
2.1 Market Participants Play Different Roles ............................................................................. 146
2.1.1 Instrument Manufacturer ............................................................................................... 147
2.1.2 Independent lab specialized/esoteric ......................................................................... 147
2.1.3 Independent lab national/regional.............................................................................. 147
2.1.4 Independent lab analytical .......................................................................................... 148
2.1.5 Public National/regional lab ......................................................................................... 148
2.1.6 Hospital lab ..................................................................................................................... 148
2.1.7 Physician lab................................................................................................................... 149
2.1.8 DTC Lab........................................................................................................................... 149
2.1.9 Sequencing Labs............................................................................................................ 149
2.1.10 Audit body .................................................................................................................... 149
2.2 Human Gene Sequencing Markets, Examples and Discussion....................................... 151
2.2.1 Inherited Disease  Not what it used to be .................................................................. 151
2.2.1.1 Clinical and Research Lines Blur............................................................................ 152
2.2.1.2 Genetic Counselling  Not so simple anymore.................................................... 152
2.2.1.3 The Genetic Blizzard  Issues of Access and Payment ........................................ 152
2.2.2 Newborn Screening  The Standard of Care............................................................... 153
2.2.2.1 Newborn Screening  Do Parents Want to Know? .............................................. 153
2.2.3 NIPT  Weve Only Just Begun ....................................................................................... 154
2.2.3.1 NIPT, IVF and the Fertility Practice  PGS, PGD, CCS ........................................... 154
2.2.3.2 NIPT in the Future  Beyond Inherited Disease ..................................................... 155
2.2.4 Oncology  Understanding Two Worlds ....................................................................... 155
2.2.4.1 The Tumor  A Sequence of Sequencing ............................................................. 155
2.2.4.2 The Tumor - Biopsy and Liquid Biopsy ................................................................... 156
2.2.4.3 The Human Genome  Predisposition and Prognosis.......................................... 157
2.2.5 Pharmacogenomics ...................................................................................................... 157
2.2.5.1 Sequencing Not the Only Player........................................................................... 158
2.2.5.2 New Roles for Old Drugs  A Research Bonanza? ............................................... 158
2.2.6 Direct To Consumer  More Than Meets the Eye......................................................... 160
2.2.6.1 DTC  How Many Segments? ................................................................................ 160
2.3 Industry Structure .................................................................................................................. 167
2.3.1 Hospitals Testing Share.................................................................................................. 167
2.3.2 The Rise of the Sequencing Lab.................................................................................... 167
2.3.3 Sequencing as a Commodity ....................................................................................... 168
2.3.4 Informatics ...................................................................................................................... 169
2.3.5 Instrument Manufacturer Role....................................................................................... 169
2.3.6 Healthcare Industry Impacts  Still Struggling............................................................... 170
2.3.7 Can the Healthcare Industry Adapt?........................................................................... 170
2.3.8 Genetic Counselling as an Industry .............................................................................. 171
2.3.9 Sequencing Adoption and Cannibalization................................................................ 171

3. Market Trends....................................................................................................................174
3.1 Factors Driving Growth......................................................................................................... 175
3.1.1 New Diagnoses............................................................................................................... 175
3.1.2 Wellness and Prevention................................................................................................ 176
3.1.3 Fertility Technology......................................................................................................... 176
3.1.4 Cancer  Screening, Management and Monitoring .................................................. 176
3.2 Factors Limiting Growth........................................................................................................ 177
3.2.1 Increased Competition Lowers Price............................................................................ 178
3.2.2 Lower Costs..................................................................................................................... 179
3.2.3 Healthcare Cost Concerns Curtail Growth. ................................................................. 180
3.2.4 Wellness has a downside ............................................................................................... 180
3.3 Sequencing Instrumentation ............................................................................................... 181
3.3.1 Instrumentation Tenacity. .............................................................................................. 181
3.3.2 Declining Cost of Instruments Changes Industry Structure. ........................................ 181
3.3.3 LISTING of CURRENT INSTRUMENT SPECIFICATIONS....................................................... 182
3.3.4 Long Reads  Further Segmentation............................................................................. 184
3.3.5 Linked Reads................................................................................................................... 184
3.3.6  New Sequencing Technologies ................................................................................... 185

4. Human Gene Sequencing Recent Developments........................................................188
4.1 Recent Developments  Importance and How to Use This Section................................. 189
4.1.1 Importance of These Developments ............................................................................ 189
4.1.2 How to Use This Section.................................................................................................. 189
Yourgene Health Gets CE Mark for Iona NIPT Test................................................................... 189
NorthShore Looks to Expand Genomics Integration Into Primary Care................................. 190
Germline Results From Tumor-Normal Sequencing Guides Precision Therapy in Advanced Cancer Patients.......................................................................................................................... 191
FDA Clears Cancer Genomic Profiling Kit From Personal Genome Diagnostics................... 194
BillionToOne Closes $15M Series A Follow-on Round ............................................................... 195
Mass General, Brigham and Women's Open Clinics to Integrate Genomics Into Primary Care............................................................................................................................................. 195
Asuragen Fragile X Diagnostic Test Gets FDA Authorization................................................... 197
Fluxion Bio Wins NIH Grant to Develop NIPT Assay................................................................... 199
Illumina, Broad Institute Collaborate on Genome Analysis Software .................................... 199
Illumina, Adaptive Biotechnologies Partner on IVD Test Kits for Immune Sequencing ......... 201
Menarini Silicon Biosystems, BlueBee Partner on Sequencing Data Analysis Platform ......... 202
Paying cash for elective genomic sequencing....................................................................... 203
NIH funds Color ahead of million-person sequencing effort .................................................. 203
Veritas Genetics slashes price of whole genome sequencing 40% to $600 ......................... 206
Superfast gene sequencing diagnoses critically ill patients ................................................... 209
Veracyte Details Clinical Utility of RNA Sequencing-Based Testing for Thyroid Cancer....... 212
Longas Technologies Launches. Offers 'Virtual Long Read' Library Prep .............................. 213
New Blood Test Detects Colorectal Cancer Recurrence Up to 16.5 Months Earlier ............ 214
PerkinElmer Genomics Introduces Physician-Ordered Genetic Screening Test for Proactive Health Management ....................................... 215
Roche Gets CE Mark for Mutation Profiler Software for NGS Cancer Tests ........................... 217
PGDx and PathGroup Enter Co-Development Agreement................................................... 218
Newborn genomic sequencing detects unanticipated disease risk factors ........................ 219

5.  Profiles of Key Companies ..............................................................................................221
10x Genomics, Inc................................................................................................................... 222
23andME Inc............................................................................................................................ 223
Abbott Diagnostics ................................................................................................................. 225
AccuraGen Inc. ...................................................................................................................... 227
Adaptive Biotechnologies...................................................................................................... 228
Admera Health, LLC................................................................................................................ 229
Agena Bioscience, Inc............................................................................................................ 230
Agilent...................................................................................................................................... 232
Akonni Biosystems ................................................................................................................... 234
Ancestry.com LLC ................................................................................................................... 235
Anchor Dx ................................................................................................................................ 237
ArcherDx, Inc. .......................................................................................................................... 238
ARUP Laboratories................................................................................................................... 239
Asuragen.................................................................................................................................. 241
Baylor Miraca Genetics Laboratories .................................................................................... 243
Beckman Coulter, Inc. ............................................................................................................ 244
Becton, Dickinson and Company ......................................................................................... 245
BGI Genomics Co. Ltd ............................................................................................................ 247
Bioarray Genetics.................................................................................................................... 249
Biocept, Inc.............................................................................................................................. 250
Biodesix Inc. ............................................................................................................................. 251
BioFluidica................................................................................................................................ 252
BioGenex ................................................................................................................................. 253
Biolidics Ltd............................................................................................................................... 255
bioMérieux Diagnostics........................................................................................................... 256
Bioneer Corporation ............................................................................................................... 258
Bio-Rad Laboratories, Inc. ...................................................................................................... 260
Bio-Techne ............................................................................................................................... 262
Cancer Genetics..................................................................................................................... 264
Caris Molecular Diagnostics................................................................................................... 266
CellMax Life ............................................................................................................................. 267
Centogene .............................................................................................................................. 268
Cepheid (now Danaher ......................................................................................................... 270
Chronix Biomedical................................................................................................................. 272
Circulogene............................................................................................................................. 273
Clinical Genomics................................................................................................................... 274
Color Genomics ...................................................................................................................... 275
Complete Genomics, Inc.  A BGI Company ...................................................................... 276
Cynvenio.................................................................................................................................. 278
Dante Labs .............................................................................................................................. 279
Datar Cancer Genetics Limited............................................................................................. 281
Diasorin S.p.A........................................................................................................................... 282
Epic Sciences........................................................................................................................... 283
Epigenomics AG ..................................................................................................................... 284
Eurofins Scientific ..................................................................................................................... 285
Excellerate Bioscience............................................................................................................ 288
Exosome Diagnostics .............................................................................................................. 289
Fabric Genomics..................................................................................................................... 291
Fluidigm Corp .......................................................................................................................... 292
Foundation Medicine ............................................................................................................. 294
Freenome................................................................................................................................. 295
FUJIFILM Wako Diagnostics..................................................................................................... 296
Fujirebio.................................................................................................................................... 297
GE Global Research ............................................................................................................... 298
GE Healthcare Life Sciences .................................................................................................. 300
Gene by Gene, Ltd................................................................................................................. 302
Genedrive................................................................................................................................ 304
GeneFirst Ltd............................................................................................................................ 305
Genetron Health (Beijing) Co., Ltd. ....................................................................................... 306
Genewiz................................................................................................................................... 307
Genomic Health...................................................................................................................... 308
Genomics England ................................................................................................................. 310
Genomics Personalized Health (GPH)................................................................................... 312
GenomOncology.................................................................................................................... 314
Genzyme Corporation............................................................................................................ 315
Grail, Inc................................................................................................................................... 317
Grifols........................................................................................................................................ 319
Guardant Health..................................................................................................................... 320
Guardiome .............................................................................................................................. 321
HeiScreen................................................................................................................................. 323
Helix .......................................................................................................................................... 324
Helomics................................................................................................................................... 326
Hologic..................................................................................................................................... 327
Horizon Discovery .................................................................................................................... 329
HTG Molecular Diagnostics .................................................................................................... 331
Human Longevity, Inc............................................................................................................. 333
iCellate..................................................................................................................................... 335
Illumina ..................................................................................................................................... 336
Incell Dx.................................................................................................................................... 337
Inivata ...................................................................................................................................... 338
Integrated Diagnostics ........................................................................................................... 339
Invitae Corporation................................................................................................................. 340
Invivoscribe.............................................................................................................................. 342
Karius ........................................................................................................................................ 343
Macrogen................................................................................................................................ 344
MDNA Life SCIENCES, Inc........................................................................................................ 345
MDx Health .............................................................................................................................. 346
Medgenome ........................................................................................................................... 347
Meridian Bioscience................................................................................................................ 348
Mesa Biotech........................................................................................................................... 350
MIODx....................................................................................................................................... 351
miR Scientific............................................................................................................................ 352
MNG Labs ................................................................................................................................ 353
Molecular MD.......................................................................................................................... 354
NantHealth, Inc. ...................................................................................................................... 355
Natera...................................................................................................................................... 357
Nebula Genomics................................................................................................................... 359
NeoGenomics ......................................................................................................................... 360
New Oncology ........................................................................................................................ 362
Novogene Bioinformatics Technology Co., Ltd.................................................................... 363
Omega Bioservices ................................................................................................................. 365
OncoDNA ................................................................................................................................ 367
ORIG3N, Inc. ............................................................................................................................ 368
Origene Technologies............................................................................................................. 370
Oxford Nanopore Technologies ............................................................................................ 371
Pacific Biosciences.................................................................................................................. 373
Panagene................................................................................................................................ 374
Perkin Elmer.............................................................................................................................. 375
Personal Genome Diagnostics............................................................................................... 377
Personalis ................................................................................................................................. 378
Precipio .................................................................................................................................... 379
PrecisionMed ........................................................................................................................... 380
Promega .................................................................................................................................. 381
Protagen Diagnostics.............................................................................................................. 383
Qiagen Gmbh......................................................................................................................... 384
Quantumdx ............................................................................................................................. 386
Regeneron............................................................................................................................... 387
Roche Molecular Diagnostics ................................................................................................ 389
Roswell Biotechnologies ......................................................................................................... 391
Seegene .................................................................................................................................. 392
Sequencing.com..................................................................................................................... 394
Siemens Healthineers .............................................................................................................. 396
simfo GmbH............................................................................................................................. 398
Singlera Genomics Inc............................................................................................................ 399
SkylineDx .................................................................................................................................. 400
Stratos Genomics .................................................................................................................... 401
Sure Genomics, Inc. ................................................................................................................ 402
Sysmex...................................................................................................................................... 404
Sysmex Inostics ........................................................................................................................ 405
Tempus Labs, Inc..................................................................................................................... 407
Thermo Fisher Scientific Inc..................................................................................................... 408
Veritas Genetics ...................................................................................................................... 410
Volition ..................................................................................................................................... 412

6.  The Global Market for Human Genome Sequencing ..................................................413
6.1 Global Market Overview by Country.................................................................................. 414
6.1.1 Table  Global Market by Country................................................................................ 414
6.1.2 Chart - Global Market by Country................................................................................ 415
6.2 Global Market by Application - Overview ......................................................................... 416
6.2.1 Table  Global Market by Application ......................................................................... 416
6.2.2 Chart  Global Market by Application  Base/Final Year Comparison ..................... 417
6.2.3 Chart  Global Market by Application  Base Year .................................................... 418
6.2.4 Chart  Global Market by Application  Final Year..................................................... 419
6.2.5 Chart  Global Market by Application  Share by Year.............................................. 420
6.2.6 Chart  Global Market by Application  Segment Growth ........................................ 421

7.  Market Sizes by Application............................................................................................422
7.1 Hereditary Gene Sequencing Market ................................................................................ 423
7.2 Newborn Gene Sequencing Market .................................................................................. 425
7.3 NIPT Gene Sequencing Market ........................................................................................... 427
7.4 Oncology Gene Sequencing Market ................................................................................. 429
7.5 Pharmacogenomic Gene Sequencing Market................................................................. 431
7.6 Direct To Consumer Gene Sequencing Market................................................................. 433

8. Vision of the Future of Human Gene Sequencing .........................................................435
Appendices ..........................................................................................................................436
I. United States Medicare System: January 2020 laboratory Fees Schedule......................... 436
II The Whole Genome Sequence of SARS-CoV-2 .................................................................... 508
III Methodology........................................................................................................................... 547
II.1 Authors................................................................................................................................ 547
II.2 Sources ............................................................................................................................... 547
II Methodology ........................................................................................................................... 548
II.1 Authors................................................................................................................................ 548
II.2 Sources ............................................................................................................................... 548

List of Tables

Table 1  The Base Pairs..................................................................................................................... 25
Table 2 Most Common Traditional Genetic Disorders .................................................................. 28
Table 3 Lab Spending 2014 to 2024 ............................................................................................... 33
Table 4 List of GLOBAL SEQUENCING LOCATIONS ........................................................................ 38
Table 5  Market Players by Type ................................................................................................... 146
Table 6 The Different Markets for Human Gene Sequencing .................................................... 151
Table 7 DTC Sub Segments ........................................................................................................... 161
Table 8 The Factors Driving Growth.............................................................................................. 175
Table 9 Factors Limiting Growth ................................................................................................... 177
Table 10 - Listing of Current NGS Instrument Specifications ....................................................... 182
Table 11 Six New Sequencing Technologies ............................................................................... 185
Table 12 - Global Market by Region ............................................................................................ 414
Table 13 Global Market by Application....................................................................................... 416
Table 14 Hereditary Segment by Country ................................................................................... 423
Table 15 Newborn Segment by Country ..................................................................................... 425
Table 16 NIPT Segment by Country.............................................................................................. 427
Table 17 Oncology Segment by Country.................................................................................... 429
Table 18 Pharmacogenomic Segment by Country.................................................................... 431
Table 19 Direct To Consumer Segment by Country.................................................................... 433
Table 20 2020 Clinical Lab Fee Schedule .................................................................................... 436

List of Figures


Figure 1 Clinical Lab Spending 2014 to 2024................................................................................. 32
Figure 2 Gene Sequencing............................................................................................................. 34
Figure 3 TruSight Germline Panel .................................................................................................. 157
Figure 4 Historical Cost of Gene Sequencing.............................................................................. 168
Figure 5 - Cost To Sequence a Human Genome........................................................................ 179
Figure 6 Base Year Country Market Share Chart ........................................................................ 415
Figure 7 Global Market by Application - Base vs. Final Year...................................................... 417
Figure 8 Global Market by Application Base Year...................................................................... 418
Figure 9 Global Market by Application Final Year ...................................................................... 419
Figure 10 Application Type Share by Year................................................................................... 420
Figure 11 by Application Segment Growth ................................................................................. 421
Figure 12 Hereditary vs. Total Market Growth ............................................................................. 424
Figure 13 Newborn vs. Total Market Growth ............................................................................... 426
Figure 14 NIPT vs. Total Market Growth ........................................................................................ 428
Figure 15 Oncology vs. Total Market Growth .............................................................................. 430
Figure 16 Pharmacogenomic vs. Total Market Growth.............................................................. 432
Figure 17 Direct To Consumer vs. Total Market Growth.............................................................. 434