Table of Content

Table of Contents
i. Genetic Testing - Strategic Situation Analysi & Impact of COVID-19 Pandemic ...21
i. Guide for Executives, Marketing, Sales and Busines Development Staf .......23
i. Guide for Management Consultants and Investment Advisors .............25
1. Introduction and Market Definiton.............................27
1.1 Genetic Testing Definiton in This Report........................... 28
1.2 The Genomics Revolution ................................... 29
1.3 Market Definiton ........................................ 31
1.3.1 Revenue Market Size.................................... 31
1.3.1 Newborn Screening .................................... 32
1.3.2 Non Invasise Pregnancy Testing.............................. 32
1.3.3 Predictive .......................................... 32
1.3.4 Oncology .......................................... 32
1.3.5 Direct to Consumer ..................................... 32
1.3.6 Other Application...................................... 32
1.3.7 PCR.............................................. 3
1.3.4 NGS.............................................. 3
1.3.5 Cytogenetic......................................... 3
1.3.6 Other Technology ..................................... 3
1.4 U.S. Medical Market and laboratory Testing - Perspective................. 34
1.4.1 U.S. Medicare Expenditures for Laboratory Testing ................... 35
2. Market Overview .......................................37
2.1 Market Participants Play Diferent Roles........................... 38
2.1.1 Supplier/pharmaceutical ................................. 39
2.1.2 Independent lab specialized/esoteric.......................... 39
2.1.3 Independent lab national/regional............................ 39
2.1.4 Independent lab analytical ................................ 40
2.1.5 Public National/regional ab ............................... 40
2.1.6 Hospital ab ......................................... 40
2.1.7 Physician lab........................................ 41
2.1.8 DTC Lab........................................... 41
2.1.9 Independent Genetic Testing Lab............................. 41
2.1.10 Audit Body......................................... 42
2.2 Genetic Tests –Types, Examples and Discusion ....................... 43
2.2.1 Preimplantation Genetic Diagnosi- An Emerging Market ............... 43
2.2.2 Prenatal Diagnosis – New Technologies Create Opportunity ............. 4
2.2.3 Newborn Screening .................................... 4
2.2.2 Diagnostic Testing ..................................... 45
2.2.3 Carier Testing ........................................ 45
2.2.6 Predictive and Presymptomatic Testing......................... 46
2.2.7 Pharmacogenomics .................................... 46
2.2.8 Forensic Testing....................................... 47
2.2.9 Parental Testing ....................................... 47
2.2.10 Ancestral Testing...................................... 47
2.3 Industry Structure ........................................ 49
2.3.1 Hospital’s Testing Share................................... 49
2.3.2 Economies of Scale..................................... 49
2.3.2.1 Hospital vs. Central Lab ................................. 50
2.3.3 Physician Ofice Lab’s................................... 51
2.3.4 Physician’s and POCT ................................... 51
2.4 Market Shares of Key Genetics Players - Analysis ...................... 52
3. Market Trends.........................................53
3.1 Factors Driving Growth..................................... 54
3.1.1 Genetic Discoveries Creating New Diagnostic Markets................ 54
3.1.2 Aging Population a Boon for Diagnostics........................ 5
3.1.3 Pharmacogenomics Drives Further Growth........................ 56
3.1.4 Oncology and Liquid Biopsy Enter New Era....................... 56
3.1.5 Fertilty Practice Growth drives market.......................... 57
3.1.6 Direct to Consumer begins to break out......................... 57
3.2 Factors Limitng Growth..................................... 58
3.2.1 Increased Competion Lowers Price........................... 58
3.2.2 Lower Costs......................................... 59
3.2.3 Testing usage analysis curtailng growth......................... 59
3.2.4 Welnes has a downside.................................. 59
3.3 Instrumentation and Automation............................... 61
3.3.1 Instruments Key to Market Share............................. 61
3.3.2 Bioinformatics Plays a Role................................. 61
3.4 Diagnostic Technology Development............................ 62
3.4.1 Next Generation Sequencing Fuels a Revolution.................... 63
3.4.2 Impact of NGS on pricing................................. 64
3.4.3 POCT/Self Testing Disruptive Force............................ 64
3.4.4 Pharmacogenomics Blurs Diagnosis and Treatment.................. 65
3.4.5 CGES Testing, A Brave New World............................ 6
3.4.6 Biochips/Giant magneto resistance based asay.................... 6
4. Genetic Testing Recent Developments..........................68
4.1.1 Importance of This Section ................................ 68
4.1.2 How to Use This Section................................... 68
Progenity Revenues Fal on COVID-19 Efect........................... 68
Natera Launches Tumor Genomic Profilng Asay........................ 70
23andMe To Go Public ....................................... 73
Guardant Health to Ofer Tumor Tisue Sequencing....................... 74
Ancestry Quits Health Ofering................................... 7
DTC Firm MyDNA Merges With Gene by Gene.......................... 82
Aetna Coverage for NIPT to Include Al Pregnancies ...................... 82
Agios Pharmaceuticals, PerkinElmer Partner on Hereditary Anemia Genetic Testing .... 83
Tumor, Germline Testing of Cancer Patients Can Give Discordant Results.......... 84
Invitae Completes Acquisiton of ArcherDx ........................... 86
Prenetics Receives $15M Investment............................... 87
Sanford Health Invests $80K in TruGenomix as Part of PTSD Test Aliance.......... 8
Preconception Carier Screening Trial Begins in Australia.................... 8
Genetic Testing Clinical Use Just Beginning........................... 89
Fulgent Genetics Q1 Revenues Jump 4 Percent........................ 91
Blueprint Genetics, NICER Consortium Developing Genetic Test for Immunologic,
Hematologic Disorders....................................... 92
Natera Terminates Qiagen Agreement for Developing NGS-Based Genetic Tests ..... 93
Invitae Acquires Three Companies: YouScript, Genelex, Diploid................ 94
PerkinElmer SCID Test Chosen for Newborn Screening Evaluation in England ........ 96
Germline Cancer Risk Mutations Sometimes Reported in Tumor Testing............ 97
Blueprint Genetics, Archimedlife to Launch Genetic Testing in North America ....... 105
Invitae to Ofer No-Charge Genetic Testing to Pancreatic Cancer Patients........ 105
Phosphorus Ofers DNA Testing to Ases Disease Risk..................... 107
Arivale Shuts Down Personalized Welnes Busines....................... 108
ArcherDX Acquires Baby Genes ................................. 109
MDxHealth, LifeLabs Ink Distribution Agreement for Prostate Cancer Asay ........ 10
Thermo Fisher Purchases 9 Percent Stake in Yourgene Health................ 11
Invitae Partners to Expand Free Epilepsy Genetic Testing Program.............. 12
Ilumina, Chinese Firm Partner on NGS System for Genetic Disease Dx ............ 13
NanoString Technologies Prices $103.5M Common Stock Ofering.............. 14
Canine Consumer Genomics Firm Embark Veterinary Raises $10M ............. 15
Yourgene Health to Acquire Elucigene............................. 15
Helix, AdventHealth Partner on Genetic Screening Study................... 16
5. Profiles of Key Companies ................................18
10x Genomics, Inc........................................ 19
23andME Inc........................................... 120
Abbot Diagnostics ....................................... 12
AccuraGen Inc......................................... 124
Adaptive Biotechnologies................................... 125
Admera Health, LC....................................... 126
Agena Bioscience, Inc...................................... 127
Agilent.............................................. 129
Akonni Biosystems ........................................ 131
Ancestry.com LC ........................................ 132
Anchor Dx ............................................ 134
ArcherDx, Inc........................................... 135
ARUP Laboratories........................................ 136
Asuragen............................................. 138
Baylor Miraca Genetics Laboratories............................. 140
Beckman Coulter, Inc...................................... 141
Becton, Dickinson and Company ............................... 143
BGI Genomics Co. Ltd ..................................... 145
Bioaray Genetics........................................ 147
Biocept, Inc........................................... 148
Biodesix Inc............................................ 149
BioFluidica............................................ 150
BioGenex ............................................. 151
Biolidics Ltd............................................ 153
bioMérieux Diagnostics..................................... 154
Bioneer Corporation ...................................... 156
Bio-Rad Laboratories, Inc.................................... 158
Bio-Techne............................................ 160
Cancer Genetics........................................ 162
Caris Molecular Diagnostics.................................. 164
CelMax Life ........................................... 165
Centogene........................................... 16
Chronix Biomedical....................................... 170
Circulogene........................................... 171
Clinical Genomics........................................ 172
Color Genomics......................................... 173
Complete Genomics, Inc. – A BGI Company ........................ 174
Cynvenio............................................. 176
Dante Labs ........................................... 17
Datar Cancer Genetics Limited................................ 179
Diasorin S.p.A........................................... 180
Epic Sciences.......................................... 181
Epigenomics AG ........................................ 182
Eurofins Scientifc........................................ 183
Excelerate Bioscience..................................... 186
Exosome Diagnostics ...................................... 187
Fabric Genomics........................................ 189
Fluidigm Corp .......................................... 190
Foundation Medicine ...................................... 192
Freenome............................................. 193
FUJIFILM Wako Diagnostics................................... 194
Fujirebio.............................................. 195
GE Global Research ...................................... 196
GE Healthcare Life Sciences.................................. 198
Gene by Gene, Ltd....................................... 20
Genedrive............................................ 202
GeneFirst Ltd........................................... 203
Genetron Health (Beijng) Co., Ltd............................... 204
Genewiz ............................................. 205
Genomic Health......................................... 206
Genomics England ....................................... 208
Genomics Personalized Health (GPH)............................. 210
GenomOncology........................................ 212
Genzyme Corporation..................................... 213
Grail, Inc.............................................. 215
Grifols............................................... 217
Guardant Health........................................ 218
Guardiome ........................................... 219
HeiScreen............................................. 21
Helix ................................................ 22
Helomics............................................. 24
Hologic.............................................. 25
Horizon Discovery ........................................ 27
HTG Molecular Diagnostics ................................... 29
Human Longevity, Inc...................................... 231
iCelate.............................................. 23
Ilumina.............................................. 234
Incel Dx.............................................. 235
Inivata .............................................. 236
Integrated Diagnostics ..................................... 237
Invitae Corporation....................................... 238
Invivoscribe........................................... 240
Karius............................................... 241
Macrogen............................................ 242
MDNA Life SCIENCES, Inc.................................... 243
MDx Health ........................................... 24
Medgenome .......................................... 245
Meridian Bioscience....................................... 246
Mesa Biotech.......................................... 248
MIODx............................................... 249
miR Scientifc........................................... 250
MNG Labs ............................................ 251
Molecular MD.......................................... 252
NantHealth, Inc......................................... 253
Natera.............................................. 25
Nebula Genomics........................................ 257
NeoGenomics .......................................... 258
New Oncology ......................................... 260
Novogene Bioinformatics Technology Co., Ltd........................ 261
Omega Bioservices....................................... 263
OncoDNA ............................................ 265
ORIG3N, Inc........................................... 266
Origene Technologies...................................... 268
Oxford Nanopore Technologies ................................ 269
Pacifc Biosciences....................................... 272
Panagene............................................ 273
Perkin Elmer........................................... 274
Personal Genome Diagnostics................................. 276
Personalis ............................................. 27
Precipio.............................................. 278
PrecisionMed.......................................... 279
Promega............................................. 280
Protagen Diagnostics...................................... 282
Qiagen Gmbh.......................................... 283
Quantumdx ........................................... 286
Regeneron............................................ 287
Roche Molecular Diagnostics ................................. 289
Roswel Biotechnologies .................................... 291
Seegene ............................................. 292
Sequencing.com........................................ 294
Siemens Healthineers...................................... 296
simfo GmbH........................................... 298
Singlera Genomics Inc...................................... 29
SkylineDx ............................................. 30
Stratos Genomics........................................ 301
Sure Genomics, Inc....................................... 302
Sysmex.............................................. 304
Sysmex Inostics ......................................... 305
Tempus Labs, Inc......................................... 307
Thermo Fisher Scientifc Inc................................... 308
Veritas Genetics......................................... 310
Voliton .............................................. 312
6. Global Market Size.....................................313
6.1 Global Market by Country.................................. 314
6.1.1 Table – Global Market by Country............................ 314
6.1.2 Chart – Country Market Shares ............................. 315
6.2 Global Market by Application................................ 316
6.2.1 Table – Global Market by Application ......................... 316
6.2.2 Chart – Application Share by Year ........................... 317
6.2.3 Chart – Application Segment Growth Rates ...................... 318
6.2.4 Chart – Application Segment Share Shifts........................ 319
6.2.5 Chart – Application Segment Share Base Year.................... 320
6.2.6 Chart – Application Segment Share Final Year .................... 321
6.3 Global Market by Technology................................ 32
6.3.1 Table – Global Market by Technology ......................... 32
6.3.2 Chart – Technology Share by Year ........................... 323
6.3.3 Chart – Technology Segment Growth Rates ...................... 324
6.3.4 Chart – Technology Segment Share Shifts........................ 325
6.3.5 Chart – Technology Segment Share Base Year.................... 326
6.3.6 Chart – Technology Segment Share Final Year .................... 327
7. Market Sizes by Application................................328
7.1 Newborn Testing Market................................... 329
7.1.1 Table Newborn – by Country............................... 329
7.1.2 Chart – Newborn Growth ................................ 30
7.2 NIPT Market .......................................... 31
7.2.1 Table NIPT – by Country .................................. 31
7.2.2 Chart – NIPT Growth.................................... 32
7.3 Predictive Testing Market................................... 33
7.3.1 Table Predictive – by Country .............................. 33
7.3.2 Chart – Predictive Growth................................ 34
7.4 Oncology Testing Market................................... 35
7.4.1 Table Oncology – by Country .............................. 35
7.4.2 Chart – Oncology Growth................................ 36
7.5 DTC Testing Market...................................... 37
7.5.1 Table DTC – by Country .................................. 37
7.5.2 Chart – DTC Growth.................................... 38
7.6 Other Testing Market..................................... 39
7.6.1 Table Other – by Country ................................ 39
7.6.2 Chart – Other Growth ................................... 340
8. Global Genetic Testing Market by Technology .....................341
8.1 PCR Testing Market...................................... 342
8.1.1 Table PCR – by Country .................................. 342
8.1.2 Chart – PCR Growth.................................... 343
8.2 NGS Market.......................................... 344
8.2.1 Table NGS – by Country.................................. 34
8.2.2 Chart – NGS Growth.................................... 345
8.3 Cytogenetic Testing Market ................................. 346
8.3.1 Table Cytogenetic – by Country............................. 346
8.3.2 Cytogenetic – Predictive Growth ............................ 347
8.4 Other Testing Market..................................... 348
8.4.1 Table Other – by Country ................................ 348
8.4.2 Chart – Other Growth ................................... 349
9. The Future of Genetic Testing ...............................350
Appendices ..........................................351
I. United States Medicare System: 2021 laboratory Fees Schedule.............. 351
I Methodology .......................................... 452
I.1 Authors............................................ 452
I.2 Sources ............................................ 452

 

Table of Tables
Table 1 Most Common Traditonal Genetic Disorders....................... 29
Table 2 Lab Spending 2014 to 2024 ................................. 36
Table 3 Market Players by Type ................................... 38
Table 4 The Diferent Types of Genetic Tests ............................ 43
Table 5 Five Factors Driving Growth................................. 54
Table 6 Four Factors Limitng Growth ................................ 58
Table 7 Key Diagnostic Laboratory Technology Trends ...................... 62
Table 8 Next Generation Sequencing Technologies – Speed and Cost ............. 63
Table 9 Global Market by Country................................. 314
Table 10 Global Market by Application.............................. 316
Table 1 Global Market by Technology .............................. 32
Table 12 Newborn Segment by Country ............................. 329
Table 13 NIPT Segment by Country ................................ 31
Table 14 Predictive Segment by Country ............................. 33
Table 15 Oncology Segment by Country............................. 35
Table 16 DTC Segment by Country ................................ 37
Table 17 Other Segment by Country ............................... 39
Table 18 PCR Segment by Country................................ 342
Table 19 NGS Segment by Country................................ 34
Table 20 Cytogenetic Segment by Country ........................... 346
Table 21 Other Segment by Country ............................... 348
Table 2 2021 CLINICAL LAB FE SCHEDULE............................ 351

Table of Figures
Figure 1 Clinical Lab Spending 2014 to 2024............................ 35
Figure 2 Top Ten Sequencing Companies............................. 52
Figure 3 Percentage of World Population Over 65......................... 5
Figure 4 Country Market Shares................................... 315
Figure 5 Application Share by Year................................ 317
Figure 6 Application Segment Growth Rates........................... 318
Figure 7 Segment Share Shifts................................... 319
Figure 8 Application Segment Share Base Year ......................... 320
Figure 9 Application Segment Share Final Year......................... 321
Figure 10 Technology Share by Year................................ 323
Figure 1 Technology Segment Growth Rates.......................... 324
Figure 12 Technology Segment Share Shifts........................... 325
Figure 13 Technology Segment Share Base Year ........................ 326
Figure 14 Technology Segment Share Final Year......................... 327
Figure 15 Newborn vs. Total Market Growth ........................... 30
Figure 16 NIPT vs. Total Market Growth .............................. 32
Figure 17 Predictive vs. Total Market Growth ........................... 34
Figure 18 Oncology vs. Total Market Growth ........................... 36
Figure 19 DTC vs. Total Market Growth .............................. 38
Figure 20 Other vs. Total Market Growth ............................. 340
Figure 21 PCR vs. Total Market Growth .............................. 343
Figure 2 NGS vs. Total Market Growth.............................. 345
Figure 23 Cytogenetic vs. Total Market Growth.......................... 347
Figure 24 Other vs. Total Market Growth ............................. 349