Human Gene Sequencing Markets, Strategies & Trends. Forecasts by Application, by Technology, by Workflow, by Product, and by Country. With Executive and Consultant Guides and Impact of Artificial Intelligence. 2025 to 2029

Table of Contents

1. Market Guides

• 1.1. Human Gene Sequencing Markets - Strategic Situation Analysis
• 1.2. Guide for Executives, Marketing, Sales and Business Development Staff
• 1.3. Guide for Management Consultants and Investment Advisors
• 1.4. Impact of Artificial Intelligence on Gene Sequencing Market

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. Methodology
  • 2.4.1. Methodology
  • 2.4.2. Sources
  • 2.4.3. Authors
• 2.5. Perspective: Healthcare and the IVD Industry
  • 2.5.1. Global Healthcare Spending
  • 2.5.2. Spending on Diagnostics
  • 2.5.3. Important Role of Insurance for Diagnostics
• 2.6. Chromosomes, Genes and Epigenetics
  • 2.6.1. Chromosomes
  • 2.6.2. Genes
  • 2.6.3. Epigenetics
  • 2.6.4. Genetic Testing vs. Gene Sequencing
  • 2.6.5. 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. Players in a Dynamic Market
  • 4.1.1. Academic Research Lab
  • 4.1.2. Diagnostic Test Developer
  • 4.1.3. Instrumentation Supplier
  • 4.1.4. Chemical/Reagent Supplier
  • 4.1.5. Pathology Supplier
  • 4.1.6. Independent Clinical Laboratory
  • 4.1.7. Public National/regional Laboratory
  • 4.1.8. Hospital Laboratory
  • 4.1.9. Physicians Office Lab (POLS)
  • 4.1.10. Audit Body
  • 4.1.11. Certification 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
  • 5.3.1. Instrumentation Tenacity
  • 5.3.2. Declining Cost of Instruments Changes Industry Structure
  • 5.3.3. Long Reads - Further Segmentation
  • 5.3.4. Linked Reads
  • 5.3.5. 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. Adaptive Biotechnologies MRD Testing Grows
• 6.3. GeneDx to Acquire Fabric Genomics
• 6.4. Inclusive Newborn Sequencing Shows Potential
• 6.5. Delve Bio: Delve Detect
• 6.6. Caris CDx Assay Approval
• 6.7. Ambry Genetics: ExomeReveal
• 6.8. WGS Improves Pediatric Cancer Care
• 6.9. Cancer genomes identify candidate driver genes
• 6.10. Genetic Dx a game changer
• 6.11. Nonacus Galeas Tumor
• 6.12. Lucence LiquidHallmark Assay Gets Coverage
• 6.13. Garvan Institute Gets Gramt to Develop Genomics Tests
• 6.14. Arima Genomics, Protean BioDiagnostics Launch Joint Venture
• 6.15. Geneseeq Nabs CE Marks for Cancer Test Kits
• 6.16. Viome Life Sciences Announces Gut Intelligence Test
• 6.17. Quest Diagnostics Announces Genetic Insights
• 6.18. Exact Sciences Releases Next-Gen Cologuard
• 6.19. BGI Genomics Forges Partnerships in Latin America
• 6.20. 4bases Bets on NGS Diagnostics
• 6.21. Guardant Health Submits Colorectal Cancer Screening Test
• 6.22. Universal DX Eyeing Approval for Colorectal Cancer Screening Test
• 6.23. Natera Files Suit Against NeoGenomics
• 6.24. Genomics England to Sequence 100K Newborns
• 6.25. Novigenix Raises $14M for NGS based Liquid Biopsy
• 6.26. LetsGetChecked Launching New PGx Service
• 6.27. Qiagen, Neuron23 Partner for NGS Diagnostic
• 6.28. Harbinger Health Technology Focused On Oncogenesis
• 6.29. Delfi Diagnostics to Develop Early Detection Test
• 6.30. Dante Labs to Introduce WGS to Italian Healthcare System
• 6.31. Invitae Neurodevelopmental Disorders Testing Service
• 6.32. Thermo Fisher Obtains CE Mark for Ion Torrent Genexus
• 6.33. Myriad Genetics Launches Suite of Cancer Tests
• 6.34. Oncocyte and Thermo Fisher Strike Partnership Deal
• 6.35. Illumina Partners With Precision Medicine to Assess Liquid Biopsy
• 6.36. Sysmex Inostics Develops Ultra-Sensitive Liquid Biopsy
• 6.37. Twist Bioscience, Centogene Partner on NGS-Based Rare Disease Testing
• 6.38. Strata Oncology Trial Supports NGS Assay
• 6.39. NYU Gets FDA Clearance for Sequencing Test
• 6.40. NeoGenomics to Acquire Inivata
• 6.41. OncoDNA, Institut Curie Partner on Liquid Biopsy Research
• 6.42. Cancer Heritability Gene Set Expanded
• 6.43. Whole-Genome Sequencing Could Replace Cytogenetics
• 6.44. Twist Bioscience, Berry Genomics Partner on Targeted NGS Assays
• 6.45. Ancestry Shutters Health Offering
• 6.46. Genetron Health Targeting Early Cancer Detection
• 6.47. Pan-European Initiative to Build Tools for Sharing Genomic Data
• 6.48. UK Government Unveils New Genomic Healthcare Strategy
• 6.49. Foundation Medicine Liquid Biopsy Gets FDA Approval
• 6.50. American Heart Association Develops Genetic Testing Guidelines
• 6.51. Yourgene Health Gets CE Mark for Iona NIPT Test
• 6.52. NorthShore Looks to Expand Genomics Integration Into Primary Care
• 6.53. Germline Results From Tumor Sequencing Guides Precision Therapy
• 6.54. FDA Clears Cancer Genomic Profiling From Personal Genome Diagnostics
• 6.55. BillionToOne Closes $15M Series A Follow-on Round
• 6.56. Clinics to Integrate Genomics Into Primary Care

7. Profiles of Key Companies

• 7.1. 10x Genomics, Inc.
• 7.2. 23andME Inc.
• 7.3. Abbott Laboratories
• 7.4. AccuraGen Inc.
• 7.5. Adaptive Biotechnologies
• 7.6. Admera Health, LLC
• 7.7. Advanced Biological Laboratories
• 7.8. Agilent
• 7.9. Akonni Biosystems
• 7.10. Amoy Diagnostics Co., Ltd.
• 7.11. Ancestry.com LLC
• 7.12. Anchor Dx
• 7.13. Arrayit Corporation
• 7.14. ARUP Laboratories
• 7.15. Astrid Bio
• 7.16. Azenta
• 7.17. BaseClear
• 7.18. Baylor Miraca Genetics Laboratories
• 7.19. Beckman Coulter Diagnostics (Danaher)
• 7.20. Becton, Dickinson and Company
• 7.21. BGI Genomics Co. Ltd
• 7.22. Bioarray Genetics
• 7.23. BioBam
• 7.24. Biocept, Inc.
• 7.25. Biodesix Inc.
• 7.26. BioFluidica
• 7.27. BioGenex
• 7.28. Biolidics Ltd
• 7.29. bioMerieux Diagnostics
• 7.30. Bioneer Corporation
• 7.31. Bio-Rad Laboratories, Inc.
• 7.32. Bio-Techne
• 7.33. Burning Rock
• 7.34. C2i Genomics
• 7.35. Cantata Bio
• 7.36. CareDx
• 7.37. Caris Molecular Diagnostics
• 7.38. Celemics
• 7.39. CellMax Life
• 7.40. Centogene
• 7.41. Cepheid (Danaher)
• 7.42. Circulogene
• 7.43. Clearbridge Biomedics
• 7.44. Clinical Genomics
• 7.45. Color Genomics
• 7.46. Complete Genomics (MGI Tech)
• 7.47. CosmosID
• 7.48. Dante Labs
• 7.49. Datar Cancer Genetics Limited
• 7.50. Diasorin S.p.A.
• 7.51. Easy DNA
• 7.52. Element Biosciences
• 7.53. Epic Sciences
• 7.54. Epigenomics AG
• 7.55. Eurofins Scientific
• 7.56. Excellerate Bioscience
• 7.57. Fabric Genomics
• 7.58. Freenome
• 7.59. FUJIFILM Wako Diagnostics
• 7.60. Fujirebio
• 7.61. Fulgent Genetics
• 7.62. GE Global Research
• 7.63. Gene by Gene, Ltd.
• 7.64. Genedrive
• 7.65. GeneDx Holdings
• 7.66. GeneFirst Ltd.
• 7.67. GeneFluidics
• 7.68. Genetron Holdings
• 7.69. Genewiz
• 7.70. Genomics England
• 7.71. Genomics Personalized Health (GPH)
• 7.72. GenomOncology
• 7.73. Genzyme Corporation
• 7.74. Grifols
• 7.75. Guardant Health
• 7.76. Guardiome
• 7.77. Helix
• 7.78. Hologic
• 7.79. HTG Molecular Diagnostics
• 7.80. Human Longevity, Inc.
• 7.81. iCellate
• 7.82. Illumina
• 7.83. Incell Dx
• 7.84. Inivata
• 7.85. Invitae Corporation
• 7.86. Invivoscribe
• 7.87. Karius
• 7.88. Letsgetchecked
• 7.89. Lucence Health
• 7.90. Lunglife AI Inc
• 7.91. Macrogen
• 7.92. MDNA Life SCIENCES, Inc.
• 7.93. MDx Health
• 7.94. Medgenome
• 7.95. Meridian Bioscience
• 7.96. Mesa Laboratories, Inc.
• 7.97. Metabiomics Corp
• 7.98. miR Scientific
• 7.99. NantHealth, Inc.
• 7.100. Natera
• 7.101. Nebula Genomics
• 7.102. NeoGenomics
• 7.103. New England Biolabs, Inc.
• 7.104. NGeneBio
• 7.105. Norgen Biotek Corp.
• 7.106. Novogene
• 7.107. Omega Bioservices
• 7.108. Oncocyte
• 7.109. OncoDNA
• 7.110. OpGen
• 7.111. Origene Technologies
• 7.112. Oxford Nanopore Technologies
• 7.113. Pacific Biosciences
• 7.114. Panagene
• 7.115. PathoQuest S.A.
• 7.116. Personalis
• 7.117. PGDx (Labcorp)
• 7.118. Precipio
• 7.119. PrecisionMed
• 7.120. Predictive Oncology
• 7.121. Promega
• 7.122. Qiagen
• 7.123. QuantuMDx
• 7.124. Regeneron Pharmaceuticals
• 7.125. Revvity
• 7.126. Roche Diagnostics
• 7.127. Roswell Biotechnologies
• 7.128. Seegene
• 7.129. SeLux Diagnostics
• 7.130. Sequencing.com
• 7.131. Siemens Healthineers
• 7.132. simfo GmbH
• 7.133. Singlera Genomics Inc.
• 7.134. Singular Genomics
• 7.135. SkylineDx
• 7.136. Standard BioTools
• 7.137. Sysmex
• 7.138. Sysmex Inostics
• 7.139. Tempus Labs, Inc.
• 7.140. Thermo Fisher Scientific
• 7.141. Ultima Genomics
• 7.142. Unchained Labs
• 7.143. Variantyx
• 7.144. Vela Diagnostics
• 7.145. VolitionRX
• 7.146. Zymo Research Corp

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. Growth of Approved IVD Test Menu
• 14.2. Growth of Approved Average IVD Test Fee
• 14.3. The Most Used IVD Assays
• 14.4. The Highest Grossing Assays
• 14.5. Laboratory Fees Schedule
• 14.6. The Whole Genome Sequence of SARS-CoV-2

Table of Tables

• Table 1: The Base Pairs
• Table 2: Most Common Traditional Genetic Disorders
• Table 3: The Base Pairs
• 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: Six New Sequencing Technologies
• Table 11: Global Market by Region
• Table 12: Global Market by Application
• Table 13: Global Market by Technology
• Table 14: Global Market by Workflow
• Table 15: Global Market by Product
• Table 16: Hereditary Segment by Country
• Table 17: NIPT Segment by Country
• Table 18: Oncology Segment by Country
• Table 19: Psychology Segment by Country
• Table 20: WGES Segment by Country
• Table 21: Pharmacogenomics Segment by Country
• Table 22: DTC Segment by Country
• Table 23: Research Segment by Country
• Table 24: Other Application Segment by Country
• Table 25: Sanger Segment by Country
• Table 26: NGS/2G Segment by Country
• Table 27 3G/Long Segment by Country
• Table 28: Other Technology by Country
• Table 29: Sequencing Segment by Country
• Table 30: Sample Prep Segment by Country
• Table 31: Analysis Segment by Country
• Table 32: Instruments Segment by Country
• Table 33: Consumables Segment by Country
• Table 34: Software & Services Segment by Country
• Table 35: The Most Common Assays
• Table 36: Largest Revenue Assays
• Table 37: Clinical Lab Fee Schedule

Table of Figures

• Figure 1: Global Healthcare Spending
• Figure 2: The Lab Test Pie
• Figure 3: DNA Strands and Chromosomes
• Figure 4: Karyogram of Human Chromosomes
• Figure 5: Size of Various Genomes
• Figure 6: Global Illumina Installed Base Map
• Figure 7: The Road to Diagnostics
• Figure 8: TruSight Germline Panel
• Figure 9: Historical Cost of Gene Sequencing
• Figure 10: Cost To Sequence a Human Genome
• Figure 11: Base Year Country Market Share Chart
• Figure 12: Global Market by Application - Base vs. Final Year
• Figure 13: Global Market by Application Base Year
• Figure 14: Global Market by Application Final Year
• Figure 15: Application Type Share by Year
• Figure 16: by Application Segment Growth
• Figure 17: Global Market by Technology - Base vs. Final Year
• Figure 18: Global Market by Technology Base Year
• Figure 19: Global Market by Technology Final Year
• Figure 20: Technology Type Share by Year
• Figure 21: by Technology Segment Growth
• Figure 22: Global Market by Workflow - Base vs. Final Year
• Figure 23: Global Market by Workflow Base Year
• Figure 24: Global Market by Workflow Final Year
• Figure 25: Workflow Type Share by Year
• Figure 26: by Workflow Segment Growth
• Figure 27: Global Market by Product - Base vs. Final Year
• Figure 28: Global Market by Product Base Year
• Figure 29: Global Market by Product Final Year
• Figure 30: Product Type Share by Year
• Figure 31: by Product Segment Growth
• Figure 32: Hereditary vs. Total Market Growth
• Figure 33: NIPT vs. Total Market Growth
• Figure 34: Oncology vs. Total Market Growth
• Figure 35: Psychology vs. Total Market Growth
• Figure 36: WGES vs. Total Market Growth
• Figure 37: Pharmacogenomics vs. Total Market Growth
• Figure 38: DTC vs. Total Market Growth
• Figure 39: Research vs. Total Market Growth
• Figure 40: Other Application vs. Total Market Growth
• Figure 41: Sanger vs. Total Market Growth
• Figure 42: NGS/2G vs. Total Market Growth
• Figure 43 3G/Long vs. Total Market Growth
• Figure 44: Other Technology vs. Total Market Growth
• Figure 45: Sequencing vs. Total Market Growth
• Figure 46: Sample Prep vs. Total Market Growth
• Figure 47: Analysis vs. Total Market Growth
• Figure 48: Instruments vs. Total Market Growth
• Figure 49: Consumables vs. Total Market Growth
• Figure 50: Software & Services vs. Total Market Growth
• Figure 51: IVD Test Menu Growth
• Figure 52: IVD Test Average Fees - A Ten Year View