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............................................................................................................ 27 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.......................................................................................................... 28 1.1.7 Direct to Consumer .......................................................................................................... 28
1.2 The Genomics Revolution ...................................................................................................... 29 1.3 Market Definition .................................................................................................................... 31 1.3.1 Revenue Market Size........................................................................................................ 31 1.4 U.S. Medical Market and laboratory Testing - Perspective ................................................. 33 1.4.1 U.S. Medicare Expenditures for laboratory testing ........................................................ 33 1.5 Genetic Testing vs. Gene Sequencing ................................................................................. 35 1.5.1 Cost and Pricing Practice................................................................................................ 36
1A Global Listing of Sequencer Installed Base – Location & Contacts..............................37
1A.1 Notes to Installed Base Listing ............................................................................................. 37
2. Market Overview ..............................................................................................................145
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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 – We’ve 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

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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 Hospital’s 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

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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 Genetron Health Targeting Early Cancer Detection .............................................................. 189 Pan-European Initiative to Build Tools for Sharing Genomic Data ......................................... 192 UK Government Unveils New Genomic Healthcare Strategy ................................................ 196 Foundation Medicine Liquid Biopsy Gets FDA Approval ........................................................ 197 American Heart Association Develops Genetic Testing Guidelines ...................................... 199 Yourgene Health Gets CE Mark for Iona NIPT Test................................................................... 201 NorthShore Looks to Expand Genomics Integration Into Primary Care................................. 201
Germline Results From Tumor-Normal Sequencing Guides Precision Therapy in Advanced Cancer Patients.......................................................................................................................... 202
FDA Clears Cancer Genomic Profiling Kit From Personal Genome Diagnostics................... 205 BillionToOne Closes $15M Series A Follow-on Round ............................................................... 206
Mass General, Brigham and Women's Open Clinics to Integrate Genomics Into Primary Care............................................................................................................................................. 207
Asuragen Fragile X Diagnostic Test Gets FDA Authorization................................................... 209

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Fluxion Bio Wins NIH Grant to Develop NIPT Assay................................................................... 210
Illumina, Broad Institute Collaborate on Genome Analysis Software .................................... 211
Illumina, Adaptive Biotechnologies Partner on IVD Test Kits for Immune Sequencing ......... 212
Menarini Silicon Biosystems, BlueBee Partner on Sequencing Data Analysis Platform ......... 213
Paying cash for elective genomic sequencing....................................................................... 214
NIH funds Color ahead of million-person sequencing effort .................................................. 215
Veritas Genetics slashes price of whole genome sequencing 40% to $600 ......................... 217
Superfast gene sequencing diagnoses critically ill patients ................................................... 221
Veracyte Details Clinical Utility of RNA Sequencing-Based Testing for Thyroid Cancer....... 224
Longas Technologies Launches. Offers 'Virtual Long Read' Library Prep .............................. 225
New Blood Test Detects Colorectal Cancer Recurrence Up to 16.5 Months Earlier ............ 226
PerkinElmer Genomics Introduces Physician-Ordered Genetic Screening Test for Proactive Health Management ................................................................................................................. 227
Roche Gets CE Mark for Mutation Profiler Software for NGS Cancer Tests ........................... 229 PGDx and PathGroup Enter Co-Development Agreement................................................... 230 Newborn genomic sequencing detects unanticipated disease risk factors ........................ 231
5. Profiles of Key Companies ..............................................................................................234
10x Genomics, Inc................................................................................................................... 235 23andME Inc............................................................................................................................ 236 Abbott Diagnostics ................................................................................................................. 238 AccuraGen Inc. ...................................................................................................................... 240 Adaptive Biotechnologies...................................................................................................... 241 Admera Health, LLC................................................................................................................ 242 Agena Bioscience, Inc............................................................................................................ 243 Agilent...................................................................................................................................... 245

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Akonni Biosystems ................................................................................................................... 247 Ancestry.com LLC ................................................................................................................... 248 Anchor Dx ................................................................................................................................ 250 ArcherDx, Inc. .......................................................................................................................... 251 ARUP Laboratories................................................................................................................... 252 Asuragen.................................................................................................................................. 254 Baylor Miraca Genetics Laboratories .................................................................................... 256 Beckman Coulter, Inc. ............................................................................................................ 257 Becton, Dickinson and Company ......................................................................................... 258 BGI Genomics Co. Ltd ............................................................................................................ 260 Bioarray Genetics.................................................................................................................... 262 Biocept, Inc.............................................................................................................................. 263 Biodesix Inc. ............................................................................................................................. 264 BioFluidica................................................................................................................................ 265 BioGenex ................................................................................................................................. 266 Biolidics Ltd............................................................................................................................... 268 bioMérieux Diagnostics........................................................................................................... 269 Bioneer Corporation ............................................................................................................... 271 Bio-Rad Laboratories, Inc. ...................................................................................................... 273 Bio-Techne ............................................................................................................................... 275 Cancer Genetics..................................................................................................................... 277 Caris Molecular Diagnostics ................................................................................................... 279 CellMax Life ............................................................................................................................. 280 Centogene.............................................................................................................................. 281 Cepheid (now Danaher ......................................................................................................... 283

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Chronix Biomedical................................................................................................................. 285 Circulogene............................................................................................................................. 286 Clinical Genomics................................................................................................................... 287 Color Genomics ...................................................................................................................... 288 Complete Genomics, Inc. – A BGI Company ...................................................................... 289 Cynvenio.................................................................................................................................. 291 Dante Labs .............................................................................................................................. 292 Datar Cancer Genetics Limited............................................................................................. 294 Diasorin S.p.A........................................................................................................................... 295 Epic Sciences........................................................................................................................... 296 Epigenomics AG ..................................................................................................................... 297 Eurofins Scientific ..................................................................................................................... 298 Excellerate Bioscience............................................................................................................ 301 Exosome Diagnostics .............................................................................................................. 302 Fabric Genomics..................................................................................................................... 304 Fluidigm Corp .......................................................................................................................... 305 Foundation Medicine ............................................................................................................. 307 Freenome................................................................................................................................. 308 FUJIFILM Wako Diagnostics..................................................................................................... 309 Fujirebio.................................................................................................................................... 310 GE Global Research ............................................................................................................... 311 GE Healthcare Life Sciences .................................................................................................. 313 Gene by Gene, Ltd................................................................................................................. 315 Genedrive................................................................................................................................ 317 GeneFirst Ltd............................................................................................................................ 318

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Genetron Health (Beijing) Co., Ltd. ....................................................................................... 319 Genewiz ................................................................................................................................... 320 Genomic Health...................................................................................................................... 321 Genomics England ................................................................................................................. 323 Genomics Personalized Health (GPH)................................................................................... 325 GenomOncology.................................................................................................................... 327 Genzyme Corporation............................................................................................................ 328 Grail, Inc................................................................................................................................... 330 Grifols........................................................................................................................................ 332 Guardant Health ..................................................................................................................... 333 Guardiome .............................................................................................................................. 334 HeiScreen................................................................................................................................. 336 Helix .......................................................................................................................................... 337 Helomics................................................................................................................................... 339 Hologic..................................................................................................................................... 340 Horizon Discovery .................................................................................................................... 342 HTG Molecular Diagnostics .................................................................................................... 344 Human Longevity, Inc............................................................................................................. 346 iCellate..................................................................................................................................... 348 Illumina ..................................................................................................................................... 349 Incell Dx.................................................................................................................................... 350 Inivata ...................................................................................................................................... 351 Integrated Diagnostics ........................................................................................................... 352 Invitae Corporation................................................................................................................. 353 Invivoscribe.............................................................................................................................. 355

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Karius ........................................................................................................................................ 356 Macrogen................................................................................................................................ 357 MDNA Life SCIENCES, Inc........................................................................................................ 358 MDx Health .............................................................................................................................. 359 Medgenome ........................................................................................................................... 360 Meridian Bioscience................................................................................................................ 361 Mesa Biotech........................................................................................................................... 363 MIODx....................................................................................................................................... 364 miR Scientific............................................................................................................................ 365 MNG Labs ................................................................................................................................ 366 Molecular MD .......................................................................................................................... 367 NantHealth, Inc. ...................................................................................................................... 368 Natera...................................................................................................................................... 370 Nebula Genomics................................................................................................................... 372 NeoGenomics ......................................................................................................................... 373 New Oncology ........................................................................................................................ 375 Novogene Bioinformatics Technology Co., Ltd.................................................................... 376 Omega Bioservices ................................................................................................................. 378 OncoDNA ................................................................................................................................ 380 ORIG3N, Inc. ............................................................................................................................ 381 Origene Technologies............................................................................................................. 383 Oxford Nanopore Technologies ............................................................................................ 384 Pacific Biosciences.................................................................................................................. 386 Panagene................................................................................................................................ 387 Perkin Elmer.............................................................................................................................. 388

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Personal Genome Diagnostics............................................................................................... 390 Personalis ................................................................................................................................. 391 Precipio .................................................................................................................................... 392 PrecisionMed........................................................................................................................... 393 Promega .................................................................................................................................. 394 Protagen Diagnostics.............................................................................................................. 396 Qiagen Gmbh ......................................................................................................................... 397 Quantumdx ............................................................................................................................. 399 Regeneron............................................................................................................................... 400 Roche Molecular Diagnostics ................................................................................................ 402 Roswell Biotechnologies ......................................................................................................... 404 Seegene .................................................................................................................................. 405 Sequencing.com..................................................................................................................... 407 Siemens Healthineers .............................................................................................................. 409 simfo GmbH............................................................................................................................. 411 Singlera Genomics Inc............................................................................................................ 412 SkylineDx .................................................................................................................................. 413 Stratos Genomics .................................................................................................................... 414 Sure Genomics, Inc. ................................................................................................................ 415 Sysmex...................................................................................................................................... 417 Sysmex Inostics ........................................................................................................................ 418 Tempus Labs, Inc. .................................................................................................................... 420 Thermo Fisher Scientific Inc..................................................................................................... 421 Veritas Genetics ...................................................................................................................... 423 Volition ..................................................................................................................................... 425

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6. The Global Market for Human Genome Sequencing ..................................................426
6.1 Global Market Overview by Country.................................................................................. 427 6.1.1 Table – Global Market by Country................................................................................ 427 6.1.2 Chart - Global Market by Country................................................................................ 428 6.2 Global Market by Application - Overview ......................................................................... 429 6.2.1 Table – Global Market by Application ......................................................................... 429 6.2.2 Chart – Global Market by Application – Base/Final Year Comparison ..................... 430 6.2.3 Chart – Global Market by Application – Base Year .................................................... 431 6.2.4 Chart – Global Market by Application – Final Year..................................................... 432 6.2.5 Chart – Global Market by Application – Share by Year.............................................. 433 6.2.6 Chart – Global Market by Application – Segment Growth ........................................ 434
7. Market Sizes by Application............................................................................................435
7.1 Hereditary Gene Sequencing Market ................................................................................ 436 7.2 Newborn Gene Sequencing Market .................................................................................. 438 7.3 NIPT Gene Sequencing Market ........................................................................................... 440 7.4 Oncology Gene Sequencing Market ................................................................................. 442 7.5 Pharmacogenomic Gene Sequencing Market................................................................. 444 7.6 Direct To Consumer Gene Sequencing Market................................................................. 446
8. Vision of the Future of Human Gene Sequencing .........................................................448 Appendices ..........................................................................................................................449
I. United States Medicare System: January 2020 laboratory Fees Schedule ......................... 449 II The Whole Genome Sequence of SARS-CoV-2 .................................................................... 521 III Methodology........................................................................................................................... 560
II.1 Authors................................................................................................................................ 560 II.2 Sources ............................................................................................................................... 560

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II Methodology ........................................................................................................................... 561 II.1 Authors................................................................................................................................ 561 II.2 Sources ............................................................................................................................... 561


Table of Tables
Table 1 The Base Pairs..................................................................................................................... 25 Table 2 Most Common Traditional Genetic Disorders .................................................................. 29 Table 3 Lab Spending 2014 to 2024 ............................................................................................... 34 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 ............................................................................................ 427 Table 13 Global Market by Application....................................................................................... 429 Table 14 Hereditary Segment by Country ................................................................................... 436 Table 15 Newborn Segment by Country ..................................................................................... 438 Table 16 NIPT Segment by Country .............................................................................................. 440 Table 17 Oncology Segment by Country.................................................................................... 442 Table 18 Pharmacogenomic Segment by Country.................................................................... 444 Table 19 Direct To Consumer Segment by Country.................................................................... 446 Table 20 2020 Clinical Lab Fee Schedule .................................................................................... 449

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Table of Figures
Figure 1 Clinical Lab Spending 2014 to 2024................................................................................. 33 Figure 2 Gene Sequencing............................................................................................................. 35 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 ........................................................................ 428 Figure 7 Global Market by Application - Base vs. Final Year...................................................... 430 Figure 8 Global Market by Application Base Year...................................................................... 431 Figure 9 Global Market by Application Final Year ...................................................................... 432 Figure 10 Application Type Share by Year................................................................................... 433 Figure 11 by Application Segment Growth ................................................................................. 434 Figure 12 Hereditary vs. Total Market Growth ............................................................................. 437 Figure 13 Newborn vs. Total Market Growth ............................................................................... 439 Figure 14 NIPT vs. Total Market Growth ........................................................................................ 441 Figure 15 Oncology vs. Total Market Growth .............................................................................. 443 Figure 16 Pharmacogenomic vs. Total Market Growth.............................................................. 445 Figure 17 Direct To Consumer vs. Total Market Growth.............................................................. 447