Table of Content

1 Market Guides 
1.1 Human Gene Sequencing Markets - Strategic Situation Analysis & COVID Impact 
1.2 Guide for Executives, Marketing, Sales and Business Development Staff 
1.3 Guide for Management Consultants and Investment Advisors 

2 Introduction and Market Definition 
2.1 Gene Sequencing Definition In This Report 
2.1.1 Gene Sequencing 
2.1.2 Hereditary 
2.1.3 Non Invasive Prenatal Testing
2.1.4 Oncology 
2.1.5 Psychology 
2.1.6 WGES
2.1.7 Pharmacogenomic 
2.1.8 Direct to Consumer 
2.1.9 Research
2.1.10 Other 
2.2 The Genomics Revolution
2.3 Market Definition 
2.3.1 Revenue Market Size 
2.4 U.S. Medical Market and laboratory Testing - Perspective
2.4.1 U.S. Medicare Expenditures for laboratory testing 
2.5 Genetic Testing vs. Gene Sequencing 
2.5.1 Cost and Pricing Practice 

3 Global Listing of Sequencer Installed Base - Location & Contacts 
3.1 Notes to Installed Base Listing 
3.2 Illumina Installed Base 

4 Market Overview 
4.1 Market Participants Play Different Roles  
4.1.1 Instrument Manufacturer 
4.1.2 Independent lab specialized/esoteric 
4.1.3 Independent lab national/regional  
4.1.4 Independent lab analytical 
4.1.5 Public National/regional lab 
4.1.6 Hospital lab
4.1.7 Physician lab 
4.1.8 DTC Lab 
4.1.9 Sequencing Labs 
4.1.10 Audit body 
4.2 Human Gene Sequencing -Markets, Examples and Discussion 
4.2.1 Inherited Disease - Not what it used to be 
4.2.1.1 Clinical and Research Lines Blur 
4.2.1.2 Genetic Counselling - Not so simple anymore 
4.2.1.3 The Genetic Blizzard - Issues of Access and Payment 
4.2.2 Newborn Screening - The Standard of Care
4.2.2.1 Newborn Screening - Do Parents Want to Know? 
4.2.3 NIPT - We’ve Only Just Begun 
4.2.3.1 NIPT, IVF and the Fertility Practice - PGS, PGD, CCS 
4.2.3.2 NIPT in the Future - Beyond Inherited Disease 
4.2.4 Oncology - Understanding Two Worlds 
4.2.4.1 The Tumor - A Sequence of Sequencing
4.2.4.2 The Tumor - Biopsy and Liquid Biopsy 
4.2.4.3 The Human Genome - Predisposition and Prognosis 
4.2.5 Pharmacogenomics
4.2.5.1 Sequencing Not the Only Player
4.2.5.2 New Roles for Old Drugs - A Research Bonanza?
4.2.6 Direct To Consumer - More Than Meets the Eye 
4.2.6.1 DTC - How Many Segments? 
4.3 Industry Structure 
4.3.1 Hospital’s Testing Share 
4.3.2 The Rise of the Sequencing Lab 
4.3.3 Sequencing as a Commodity 
4.3.4 Informatics 
4.3.5 Instrument Manufacturer Role
4.3.6 Healthcare Industry Impacts - Still Struggling 
4.3.7 Can the Healthcare Industry Adapt?
4.3.8 Genetic Counselling as an Industry 
4.3.9 Sequencing Adoption and Cannibalization

5 Market Trends
5.1 Factors Driving Growth 
5.1.1 New Diagnoses 
5.1.2 Wellness and Prevention 
5.1.3 Fertility Technology 
5.1.4 Cancer - Screening, Management and Monitoring 
5.2 Factors Limiting Growth 
5.2.1 Increased Competition Lowers Price
5.2.2 Lower Costs 
5.2.3 Healthcare Cost Concerns Curtail Growth 
5.2.4 Wellness has a downside 
5.3 Sequencing Instrumentation 
3.3.1 Instrumentation Tenacity
3.3.2 Declining Cost of Instruments Changes Industry Structure
3.3.3 Listing of Current Instrument Specifications 
5.3.1 Long Reads - Further Segmentation 
5.3.2 Linked Reads 
5.3.3 New Sequencing Technologies 

6 Human Gene Sequencing Recent Developments
6.1 Recent Developments - Importance and How to Use This Section 
6.1.1 Importance of These Developments 
6.1.2 How to Use This Section
6.2 Myriad Genetics Projects Return to Profitability 
6.3 NeoGenomics to Acquire Inivata 
6.4 OncoDNA, Institut Curie Partner on Liquid Biopsy Research  
6.5 Cancer Heritability Gene Set Expanded 
6.6 Whole-Genome Sequencing Could Replace Cytogenetics 
6.7 Twist Bioscience, Berry Genomics Partner on Targeted NGS Assays
6.8 Ancestry Shutters Health Offering
6.9 Genetron Health Targeting Early Cancer Detection
6.10 Pan-European Initiative to Build Tools for Sharing Genomic Data 
6.11 UK Government Unveils New Genomic Healthcare Strategy 
6.12 Foundation Medicine Liquid Biopsy Gets FDA Approval 
6.13 American Heart Association Develops Genetic Testing Guidelines 
6.14 Yourgene Health Gets CE Mark for Iona NIPT Test 
6.15 NorthShore Looks to Expand Genomics Integration Into Primary Care
6.16 Germline Results From Tumor Sequencing Guides Precision Therapy 
6.17 FDA Clears Cancer Genomic Profiling From Personal Genome Diagnostics 
6.18 BillionToOne Closes $15M Series A Follow-on Round 
6.19 Clinics to Integrate Genomics Into Primary Care 
6.20 Asuragen Fragile X Diagnostic Test Gets FDA Authorization
6.21 Fluxion Bio Wins NIH Grant to Develop NIPT Assay 
6.22 Illumina, Broad Institute Collaborate on Software 
6.23 Illumina, Adaptive Biotechnologies Partner 
6.24 Menarini Silicon Biosystems, BlueBee Partner 
6.25 Paying cash for elective genomic sequencing 
6.26 NIH funds Color ahead of million-person sequencing
6.27 Veritas Genetics slashes price of WGS to $600 
6.28 Superfast gene sequencing diagnoses critically ill patients 
6.29 Veracyte Details Clinical Utility of RNA Sequencing
6.30 Longas Technologies Launches
6.31 Blood Test Detects Colorectal Cancer Recurrence Earlier 
6.32 PerkinElmer Genomics Introduces Genetic Screening Test 
6.33 Roche Gets CE Mark for Mutation Profiler Software 
6.34 PGDx and PathGroup Enter Co-Development Agreement 
6.35 Newborn genomic sequencing detects unanticipated disease risk factors

7 Profiles of Key Companies 
7.1 10x Genomics, Inc 
7.2 23andME Inc
7.3 Abbott Diagnostics 
7.4 AccuraGen Inc
7.5 Adaptive Biotechnologies
7.6 Admera Health, LLC 
7.7 Agena Bioscience, Inc
7.8 Agilent 
7.9 Akonni Biosystems  
7.10 Ancestry.com LLC  
7.11 Anchor Dx 
7.12 Aperiomics 
7.13 Arc Bio 
7.14 ArcherDx, Inc
7.15 ARUP Laboratories 
7.16 Asuragen
7.17 Baylor Miraca Genetics Laboratories
7.18 Beckman Coulter Diagnostics 
7.19 Becton, Dickinson and Company 
7.20 BGI Genomics Co. Ltd 
7.21 Bioarray Genetics
7.22 Biocept, Inc
7.23 Biodesix Inc
7.24 BioFluidica 
7.25 BioGenex
7.26 Biolidics Ltd
7.27 bioMérieux Diagnostics
7.28 Bioneer Corporation 
7.29 Bio-Rad Laboratories, Inc
7.30 Bio-Techne 
7.31 C2i Genomics 
7.32 Cancer Genetics
7.33 Caris Molecular Diagnostics
7.34 CellMax Life 
7.35 Centogene 
7.36 Cepheid (now Danaher)
7.37 Chronix Biomedical 
7.38 Circulogene 
7.39 Clinical Genomics  
7.40 Color Genomics 
7.41 Complete Genomics, Inc. - A BGI Company 
7.42 Cynvenio
7.43 Dante Labs
7.44 Datar Cancer Genetics Limited 
7.45 Diasorin S.p.A
7.46 Epic Sciences
7.47 Epigenomics AG
7.48 Eurofins Scientific 
7.49 Excellerate Bioscience
7.50 Exosome Diagnostics 
7.51 Fabric Genomics 
7.52 Fluidigm Corp 
7.53 Foundation Medicine 
7.54 Freenome
7.55 FUJIFILM Wako Diagnostics
7.56 Fujirebio 
7.57 Fulgent Genetics 
7.58 GE Global Research 
7.59 Gene by Gene, Ltd.  
7.60 Genedrive 
7.61 GeneFirst Ltd
7.62 Genetron Health (Beijing) Co., Ltd
7.63 Genewiz 
7.64 Genomics England 
7.65 Genomics Personalized Health (GPH)
7.66 GenomOncology
7.67 Genzyme Corporation
7.68 Grail, Inc
7.69 Grifols 
7.70 Guardant Health 
7.71 Guardiome 
7.72 HeiScreen 
7.73 Helix 
7.74 Helomics
7.75 Hologic 
7.76 Horizon Discovery 
7.77 HTG Molecular Diagnostics 
7.78 Human Longevity, Inc
7.79 iCellate 
7.80 Illumina 
7.81 Incell Dx 
7.82 Inivata
7.83 Integrated Diagnostics 
7.84 Invitae Corporation
7.85 Invivoscribe 
7.86 Karius 
7.87 Lexagene 
7.88 Macrogen 
7.89 MDNA Life SCIENCES, Inc
7.90 MDx Health 
7.91 Medgenome 
7.92 Meridian Bioscience 
7.93 Mesa Biotech
7.94 MIODx
7.95 miR Scientific
7.96 MNG Labs 
7.97 Molecular MD 
7.98 NantHealth, Inc
7.99 Natera 
7.100 Nebula Genomics 
7.101 NeoGenomics
7.102 Novogene Bioinformatics Technology Co., Ltd
7.103 Omega Bioservices
7.104 OncoDNA 
7.105 OpGen
7.106 ORIG3N, Inc
7.107 Origene Technologies 
7.108 Oxford Nanopore Technologies
7.109 Panagene 
7.110 Perkin Elmer 
7.111 Personal Genome Diagnostics 
7.112 Personalis 
7.113 Precipio
7.114 PrecisionMed
7.115 Promega
7.116 Protagen Diagnostics 
7.117 Qiagen Gmbh
7.118 Quantumdx 
7.119 Regeneron Pharmaceuticals 
7.120 Roche Molecular Diagnostics 
7.121 Roswell Biotechnologies
7.122 Seegene 
7.123 SeLux Diagnostics  
7.124 Sequencing.com 
7.125 Siemens Healthineers 
7.126 simfo GmbH
7.127 Singlera Genomics Inc
7.128 SkylineDx 
7.129 Stratos Genomics
7.130 Sure Genomics, Inc
7.131 Sysmex 
7.132 Sysmex Inostics 
7.133 Tempus Labs, Inc.  
7.134 Thermo Fisher Scientific Inc
7.135 Veritas Genetics 
7.136 Volition 

8 The Global Market for Human Genome Sequencing 
8.1 Global Market Overview by Country 
8.1.1 Table - Global Market by Country
8.1.2 Chart - Global Market by Country 
8.2 Global Market by Application - Overview 
8.2.1 Table - Global Market by Application 
8.2.2 Chart - Global Market by Application - Base/Final Year Comparison
8.2.3 Chart - Global Market by Application - Base Year 
8.2.4 Chart - Global Market by Application - Final Year 
8.2.5 Chart - Global Market by Application - Share by Year 
8.2.6 Chart - Global Market by Application - Segment Growth
8.3 Global Market by Technology - Overview 
8.3.1 Table - Global Market by Technology 
8.3.2 Chart - Global Market by Technology - Base/Final Year Comparison 
8.3.3 Chart - Global Market by Technology - Base Year 
8.3.4 Chart - Global Market by Technology - Final Year 
8.3.5 Chart - Global Market by Technology - Share by Year 
8.3.6 Chart - Global Market by Technology - Segment Growth
8.4 Global Market by Workflow - Overview
8.4.1 Table - Global Market by Workflow
8.4.2 Chart - Global Market by Workflow - Base/Final Year Comparison 
8.4.3 Chart - Global Market by Workflow - Base Year 
8.4.4 Chart - Global Market by Workflow - Final Year
8.4.5 Chart - Global Market by Workflow - Share by Year 
8.4.6 Chart - Global Market by Workflow - Segment Growth  
8.5 Global Market by Product - Overview  
8.5.1 Table - Global Market by Product
8.5.2 Chart - Global Market by Product - Base/Final Year Comparison 
8.5.3 Chart - Global Market by Product - Base Year 
8.5.4 Chart - Global Market by Product - Final Year 
8.5.5 Chart - Global Market by Product - Share by Year
8.5.6 Chart - Global Market by Product - Segment Growth 

9 Market Sizes by Application 
9.1 Hereditary Gene Sequencing Market
9.1.1 Table - Hereditary by Country
9.1.2 Chart - Hereditary Segment Growth 
9.2 NIPT Gene Sequencing Market 
9.2.1 Table NIPT by Country 
9.2.2 Chart - NIPT Growth 
9.3 Oncology Market 
9.3.1 Table - Oncology by Country 
9.3.2 Chart - Oncology Growth 
9.4 Psychology Market
9.4.1 Table - Psychology by Country 
9.4.2 Chart - Psychology Growth
9.5 WGES Gene Sequencing Market 
9.5.1 Table - WGES by Country 
9.5.2 Chart - WGES growth 
9.6 Pharmacogenomics Market 
9.6.1 Table Pharmacogenomics by Country 
9.6.2 Chart - Pharmacogenomics Growth 
9.7 DTC Gene Sequencing Market 
9.7.1 Table - DTC by Country 
9.7.2 Chart - DTC Growth 
9.8 Research Gene Sequencing Market 
9.8.1 Table - Research by Country 
9.8.2 Chart - Research Growth 
9.9 Other Application Market 
9.9.1 Table - Other Application by Country 
9.9.2 Chart - Other Application growth 

10 Market Sizes by Technology
10.1 Sanger Sequencing Market 
10.1.1 Table - Sanger by Country
10.1.2 Chart - Sanger Segment Growth 
10.2 NGS/2G Market 
10.2.1 Table NGS/2G by Country
10.2.2 Chart - NGS/2G Growth
10.3 3G/Long Market 
10.3.1 Table - 3G/Long by Country
10.3.2 Chart - 3G/Long Growth
10.4 Other Technology Market 
10.4.1 Table - Other Technology by Country 
10.4.2 Chart - Other Technology Growth

11 Market Sizes by Workflow 
11.1 Sequencing Market  
11.1.1 Table - Sequencing by Country 
11.1.2 Chart - Sequencing Segment Growth 
11.2 Sample Prep Market 
11.2.1 Table Sample Prep by Country
11.2.2 Chart - Sample Prep Growth
11.3 Analysis Market 
11.3.1 Table - Analysis by Country
11.3.2 Chart - Analysis Growth 

12 Market Sizes by Product 
12.1 Instruments Market 
12.1.1 Table - Instruments by Country
12.1.2 Chart - Instruments Segment Growth 
12.2 Consumables Market
12.2.1 Table Consumables by Country 
12.2.2 Chart - Consumables Growth 
12.3 Software & Services Market 
12.3.1 Table - Software & Services by Country 
12.3.2 Chart - Software & Services Growth 

13 Vision of the Future of Human Gene Sequencing

14 Appendices
14.1 United States Medicare System: January 2021 laboratory Fees Schedule 
14.2 The Whole Genome Sequence of SARS-CoV-2 
14.3 Methodology 
14.3.1 Authors 
14.3.2 Sources

List of Tables
Table 1 The Base Pairs 
Table 2 Most Common Traditional Genetic Disorders 
Table 3 Lab Spending 2014 to 2024 
Table 4 List of GLOBAL SEQUENCING LOCATIONS 
Table 5 Market Players by Type
Table 6 The Different Markets for Human Gene Sequencing 
Table 7 DTC Sub Segments  
Table 8 The Factors Driving Growth 
Table 9 Factors Limiting Growth 
Table 10 Listing of Current NGS Instrument Specifications 
Table 11 Six New Sequencing Technologies
Table 12 Global Market by Region
Table 13 Global Market by Application 
Table 14 Global Market by Technology 
Table 15 Global Market by Workflow 
Table 16 Global Market by Product 
Table 17 Hereditary Segment by Country
Table 18 NIPT Segment by Country
Table 19 Oncology Segment by Country 
Table 20 Psychology Segment by Country 
Table 21 WGES Segment by Country 
Table 22 Pharmacogenomics Segment by Country 
Table 23 DTC Segment by Country
Table 24 Research Segment by Country 
Table 25 Other Application Segment by Country
Table 26 Sanger Segment by Country 
Table 27 NGS/2G Segment by Country 
Table 28 3G/Long Segment by Country 
Table 29 Other Technology by Country 
Table 30 Sequencing Segment by Country 
Table 31 Sample Prep Segment by Country
Table 32 Analysis Segment by Country 
Table 33 Instruments Segment by Country 
Table 34 Consumables Segment by Country 
Table 35 Software & Services Segment by Country 
Table 36 2021 Clinical Lab Fee Schedule

List of Figures
Figure 1 Clinical Lab Spending 2014 to 2024 
Figure 2 Gene Sequencing
Figure 3 Global Illumina Installed Base Map 
Figure 4 TruSight Germline Panel
Figure 5 Historical Cost of Gene Sequencing 
Figure 6 Cost To Sequence a Human Genome  
Figure 7 Base Year Country Market Share Chart
Figure 8 Global Market by Application - Base vs. Final Year
Figure 9 Global Market by Application Base Year 
Figure 10 Global Market by Application Final Year 
Figure 11 Application Type Share by Year 
Figure 12 by Application Segment Growth 
Figure 13 Global Market by Technology - Base vs. Final Year 
Figure 14 Global Market by Technology Base Year 
Figure 15 Global Market by Technology Final Year 
Figure 16 Technology Type Share by Year 
Figure 17 by Technology Segment Growth 
Figure 18 Global Market by Workflow - Base vs. Final Year 
Figure 19 Global Market by Workflow Base Year  
Figure 20 Global Market by Workflow Final Year
Figure 21 Workflow Type Share by Year 
Figure 22 by Workflow Segment Growth
Figure 23 Global Market by Product - Base vs. Final Year 
Figure 24 Global Market by Product Base Year 
Figure 25 Global Market by Product Final Year  
Figure 26 Product Type Share by Year 
Figure 27 by Product Segment Growth 
Figure 28 Hereditary vs. Total Market Growth 
Figure 29 NIPT vs. Total Market Growth
Figure 30 Oncology vs. Total Market Growth 
Figure 31 Psychology vs. Total Market Growth 
Figure 32 WGES vs. Total Market Growth
Figure 33 Pharmacogenomics vs. Total Market Growth
Figure 34 DTC vs. Total Market Growth
Figure 35 Research vs. Total Market Growth
Figure 36 Other Application vs. Total Market Growth 
Figure 37 Sanger vs. Total Market Growth
Figure 38 NGS/2G vs. Total Market Growth
Figure 39 3G/Long vs. Total Market Growth
Figure 40 Other Technology vs. Total Market Growth
Figure 41 Sequencing vs. Total Market Growth  
Figure 42 Sample Prep vs. Total Market Growth 
Figure 43 Analysis vs. Total Market Growth 
Figure 44 Instruments vs. Total Market Growth 
Figure 45 Consumables vs. Total Market Growth  
Figure 46 Software & Services vs. Total Market Growth