1. Executive Summary
1.1 Situation Analysis
1.2 Market Snapshot
1.3 Key Findings
1.4 Investment & Strategic Thesis
2. Research Methodology & Scope
2.1 Scope & Market Definition
2.2 Relationship to Other Howe Sound Research Reports
2.3 Value Basis
2.4 Market Segments
2.5 Geographic Coverage
2.6 Methodology
2.7 Sources
2.8 Author
2.9 Limitations
3. Introduction to Human Gene Sequencing
3.1 What Is Sequenced: DNA, RNA, Genes and Chromosomes
3.2 From Sanger to Short Reads to Long Reads
3.3 Single Genes, Panels, Exomes and Genomes
3.4 From Library to Report
3.5 The Cost Curve and a Short History
3.6 The Industry and Its Players
4. The Global Market for Human Gene Sequencing
4.1 Global Market Overview by Country
4.2 Global Market by Application - Overview
4.3 Global Market by Technology - Overview
4.4 Global Market by Workflow - Overview
4.5 Global Market by Customer - Overview
4.6 Global Market by Product - Overview
5. Hereditary, Psychiatric & Neurological Testing
5.1 Market Overview
5.2 Hereditary Cancer, Cardiac, Carrier and Rare Disease Panels
5.3 Neurology and Psychiatry
5.4 The Laboratories
5.5 Pricing and Payers
5.6 Outlook
6. Reproductive Genetics & NIPT
6.1 Market Overview
6.2 NIPT in All Pregnancies
6.3 Single-gene NIPT and Carrier Screening
6.4 Preimplantation and Fetal Diagnostic Sequencing
6.5 Companies, Pricing and Coverage
6.6 Outlook
7. Oncology Sequencing
7.1 The Largest and Busiest Application
7.2 Comprehensive Genomic Profiling and Companion Diagnostics
7.3 Minimal Residual Disease and Treatment Monitoring
7.4 Screening: Blood-based Colorectal Tests and Multi-cancer Detection
7.5 Laboratories, Platforms and Business Models
7.6 Volumes, Prices and Outlook
8. Technology & Workflow Landscape
8.1 Four Technologies, Three Workflow Steps
8.2 Sanger Sequencing
8.3 Short-read Next-Generation Sequencing
8.4 Long-read Sequencing
8.5 Sample and Library Preparation, Enrichment and Automation
8.6 Platform Comparison and Outlook
9. Data Analysis, AI & Interpretation
9.1 From Raw Reads to a Clinical Report
9.2 Secondary Analysis: DRAGEN, Parabricks and the Cloud
9.3 Tertiary Analysis, Variant Databases and Reporting
9.4 Artificial Intelligence in Interpretation
9.5 Data Storage, Security and Privacy
10. Regulation, Reimbursement & Policy
10.1 Policy as a Market Driver
10.2 FDA Oversight: Laboratory Tests, Companion Diagnostics and Platforms
10.3 US Reimbursement
10.4 Europe and the Rest of the World
10.5 Data Privacy, BIOSECURE, China and Research Funding
10.6 Policy Outlook
11. Whole Genome & Exome, Pharma, Research & Consumer Markets
11.1 Four Markets Beyond Targeted Clinical Testing
11.2 Clinical Whole Genome and Exome Sequencing
11.3 Pharma and Drug Development
11.4 Research: Growth Under Funding Pressure
11.5 Direct-to-Consumer Genetic Testing
11.6 Asia-Pacific Notes
12. Recent Developments
12.1 EQT Agrees to Take Qiagen Private
12.2 Abbott Completes Its Acquisition of Exact Sciences
12.3 Tempus to Acquire Personalis
12.4 Grail Files for FDA Approval of Galleri and Wins a Positive Panel Vote
12.5 FDA Approves Guardant360 Liquid CDx
12.6 Natera Raises 2026 Revenue Guidance
12.7 Illumina Beats Second-Quarter Expectations and Raises Guidance
12.8 Congress Blocks 2026 Medicare Lab Fee Cuts
12.9 BillionToOne Goes Public and Keeps Growing Fast
12.10 Guardant's Shield Blood Test Volume Quadruples
13. Operations, Laboratory Economics & Supply Chain
13.1 The Laboratory Workflow
13.2 Automation, Turnaround and Batching
13.3 Cost per Test and Laboratory Economics
13.4 Reagent Supply and Platform Dependence
13.5 Staffing, Compute and Data Operations
13.6 Operational Outlook
14. Competitive Landscape
14.1 Structure of Competition
14.2 Tiers of Players
14.3 Leading Players by Role
14.4 Consolidation and Notable Acquisitions
14.5 Competitive Dynamics
14.6 Outlook for Competition
15. SWOT, Porter's Five Forces & Investment Risk Analysis
15.1 SWOT Analysis
15.2 Porter's Five Forces
15.3 Investment Risk Analysis
16. Strategic Recommendations
16.1 Guidance for Executives, Marketing, Sales and Business Development
16.2 Guidance for Management Consultants and Investment Advisors
17. Market Forecast by Application, 2026-2031
17.1 Hereditary Disease
17.2 NIPT & Reproductive
17.3 Oncology
17.4 Psychiatric & Neurological
17.5 Whole Genome & Exome
17.6 Pharma & Drug Development
17.7 Direct-to-Consumer
17.8 Research
17.9 Other
18. Market Forecast by Technology, 2026-2031
18.1 Sanger
18.2 Short-read NGS
18.3 Long-read
18.4 Other
19. Market Forecast by Workflow, 2026-2031
19.1 Sequencing
19.2 Sample & Library Prep
19.3 Data Analysis
20. Market Forecast by Customer, 2026-2031
20.1 Clinical Labs & Hospitals
20.2 Academic & Research
20.3 Biopharma & CROs
20.4 Consumer & Other
21. Market Forecast by Product, 2026-2031
21.1 Instruments
21.2 Consumables
21.3 Software & Services
22. Company Profiles
22.1 23andMe Research Institute (TTAM)
22.2 Agilent Technologies
22.3 Ambry Genetics (Tempus)
22.4 Ancestry
22.5 Azenta Life Sciences (GENEWIZ)
22.6 Baylor Genetics
22.7 Beckman Coulter Life Sciences (Danaher)
22.8 BGI Genomics
22.9 BillionToOne
22.10 Blueprint Genetics (Quest Diagnostics)
22.11 Burning Rock Biotech
22.12 Caris Life Sciences
22.13 Centogene
22.14 Complete Genomics
22.15 DELFI Diagnostics
22.16 DNAnexus
22.17 Element Biosciences
22.18 Exact Sciences (Abbott)
22.19 Foundation Medicine (Roche)
22.20 Freenome
22.21 Fulgent Genetics
22.22 GeneDx
22.23 Genetron Health
22.24 Genomind
22.25 GRAIL
22.26 Guardant Health
22.27 Hamilton Company
22.28 Illumina
22.29 Integrated DNA Technologies (Danaher)
22.30 Labcorp
22.31 Macrogen
22.32 MGI Tech
22.33 Myriad Genetics
22.34 Natera
22.35 Nebula Genomics (DNA Complete)
22.36 NeoGenomics
22.37 New England Biolabs
22.38 Novogene
22.39 Nucleus Genomics
22.40 NVIDIA (Parabricks / Clara)
22.41 Oxford Nanopore Technologies
22.42 Pacific Biosciences
22.43 Personalis
22.44 Psomagen
22.45 Qiagen
22.46 Quest Diagnostics
22.47 Revvity
22.48 Roche (Sequencing Solutions)
22.49 SOPHiA GENETICS
22.50 Tempus AI
22.51 Thermo Fisher Scientific
22.52 Twist Bioscience
22.53 Ultima Genomics
22.54 Veracyte
22.55 Watchmaker Genomics
23. Appendix
23.1 Abbreviations
23.2 Developments Archive
23.3 Report Limitations Restated
List of Tables
Table 1 Key Market Indicators (constant 2026 US$)
Table 2 Global Market by Segment, 2026 and 2031 (US$ millions, constant 2026 dollars)
Table 3 How This Report Relates to the GENWHOLE Report
Table 4 Sequencing Technologies and Market Size, 2026 and 2031
Table 5 Levels of Human Sequencing Tests
Table 6 Milestones in Human Gene Sequencing
Table 7 Market by Customer and by Product, 2026 and 2031
Table 8 Global Market by Country
Table 9 Global Market by Application
Table 10 Global Market by Technology
Table 11 Global Market by Workflow
Table 12 Global Market by Customer
Table 13 Global Market by Product
Table 14 Hereditary and Psychiatric & Neurological Sequencing Markets, 2026 and 2031
Table 15 Leading Laboratories in Hereditary, Neurological and Psychiatric Sequencing
Table 16 Reproductive Sequencing Tests
Table 17 Leading Companies in Reproductive Sequencing
Table 18 Oncology Sequencing Market, 2026 and 2031
Table 19 Leading Oncology Sequencing Providers, 2026
Table 20 Selected Medicare Rates for Oncology Sequencing Tests
Table 21 Human Gene Sequencing Market by Technology, 2026 and 2031
Table 22 Human Gene Sequencing Market by Workflow, 2026 and 2031
Table 23 Main Human Sequencing Platforms, October 2026
Table 24 Data Analysis and Software & Services Segments, 2026 and 2031
Table 25 Main Categories of Sequencing Analysis and Interpretation Tools
Table 26 Key Regulatory, Reimbursement and Policy Factors, October 2026
Table 27 Whole Genome & Exome, Pharma, Research and Consumer Applications, 2026 and 2031
Table 28 Signposts That Whole Genome Sequencing Is Taking Off
Table 29 Recent Developments at a Glance
Table 30 Workflow and Cost Drivers by Type of Sequencing Test
Table 31 Competitive Structure by Application
Table 32 Tiers of Human Gene Sequencing Competitors
Table 33 Leading Sequencing Platform Suppliers
Table 34 Leading Clinical Sequencing Laboratories by Category
Table 35 Notable Acquisitions in Human Gene Sequencing, 2024-2026
Table 36 SWOT Analysis - Strengths and Weaknesses
Table 37 SWOT Analysis - Opportunities and Threats
Table 38 Porter's Five Forces Ratings
Table 39 Investment Risk Matrix
Table 40 Selected Growth Opportunities
Table 41 Hereditary Disease by Country
Table 42 NIPT & Reproductive by Country
Table 43 Oncology by Country
Table 44 Psychiatric & Neurological by Country
Table 45 Whole Genome & Exome by Country
Table 46 Pharma & Drug Development by Country
Table 47 Direct-to-Consumer by Country
Table 48 Research by Country
Table 49 Other by Country
Table 50 Sanger by Country
Table 51 Short-read NGS by Country
Table 52 Long-read by Country
Table 53 Other by Country
Table 54 Sequencing by Country
Table 55 Sample & Library Prep by Country
Table 56 Data Analysis by Country
Table 57 Clinical Labs & Hospitals by Country
Table 58 Academic & Research by Country
Table 59 Biopharma & CROs by Country
Table 60 Consumer & Other by Country
Table 61 Instruments by Country
Table 62 Consumables by Country
Table 63 Software & Services by Country
Table 64 Developments Archive: Items from 2023-2025 in the Previous Edition
List of Figures
Figure 1 Key Graphic - Long Reads Double Their Share: Human Gene Sequencing Market by Technology, 2026 vs 2031
Figure 2 DNA Strands and Chromosomes
Figure 3 Karyogram of Human Chromosomes
Figure 4 Global Market Pareto Chart
Figure 5 Global Market by Application - Base vs. Final
Figure 6 Global Market by Application Base Year
Figure 7 Global Market by Application End Year
Figure 8 Application Share by Year
Figure 9 Application Segments Growth
Figure 10 Global Market by Technology - Base vs. Final
Figure 11 Global Market by Technology Base Year
Figure 12 Global Market by Technology End Year
Figure 13 Technology Share by Year
Figure 14 Technology Segments Growth
Figure 15 Global Market by Workflow - Base vs. Final
Figure 16 Global Market by Workflow Base Year
Figure 17 Global Market by Workflow End Year
Figure 18 Workflow Share by Year
Figure 19 Workflow Segments Growth
Figure 20 Global Market by Customer - Base vs. Final
Figure 21 Global Market by Customer Base Year
Figure 22 Global Market by Customer End Year
Figure 23 Customer Share by Year
Figure 24 Customer Segments Growth
Figure 25 Global Market by Product - Base vs. Final
Figure 26 Global Market by Product Base Year
Figure 27 Global Market by Product End Year
Figure 28 Product Share by Year
Figure 29 Product Segments Growth
Figure 30 Hereditary Disease Growth
Figure 31 NIPT & Reproductive Growth
Figure 32 Oncology Growth
Figure 33 Psychiatric & Neurological Growth
Figure 34 Whole Genome & Exome Growth
Figure 35 Pharma & Drug Development Growth
Figure 36 Direct-to-Consumer Growth
Figure 37 Research Growth
Figure 38 Other Growth
Figure 39 Sanger Growth
Figure 40 Short-read NGS Growth
Figure 41 Long-read Growth
Figure 42 Other Growth
Figure 43 Sequencing Growth
Figure 44 Sample & Library Prep Growth
Figure 45 Data Analysis Growth
Figure 46 Clinical Labs & Hospitals Growth
Figure 47 Academic & Research Growth
Figure 48 Biopharma & CROs Growth
Figure 49 Consumer & Other Growth
Figure 50 Instruments Growth
Figure 51 Consumables Growth
Figure 52 Software & Services Growth
