Whole Genome & Exome Sequencing Markets 2027–2031

Whole Genome & Exome Sequencing Markets: Market Forecast, Competitive Landscape, Technology and Policy Outlook, 2027–2031 (8th Edition)

Global forecasts by application, technology, sequencing scope, customer and product, for 14 countries and regions, with 53 company profiles.

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Our Take

Everyone asks when whole genome sequencing will take off. Much of the industry expects a hockey stick next year. We don't. A genome now costs a few hundred dollars to sequence, so price is no longer the barrier: payment for healthy people, interpretation, evidence of benefit and health records are. Routine genome sequencing in medical care is at least five years away and still needs a killer app, most likely genomic newborn screening. Meanwhile the market grows strongly but steadily, from $3,140 million in 2026 to $7,600 million in 2031, at 19.3% a year, driven by clear clinical uses.

Market Size 2026: USD $3.14B Market Size 2031: USD $7.6B CAGR: 19.3%

Situation Analysis: what is really happening

• Growth, not take-off. The report sets out why routine genome sequencing of healthy people is at least five years away, the candidate killer apps, and seven signposts that will show when the take-off is starting.
• The price of a genome is falling again. Illumina launched its $395 TruPath genome, Element claims a $100 genome on VITARI, Ultima launched its UG200 series, Roche launched AXELIOS, and PacBio's SPRQ-Nx brings a HiFi genome to $345.
• Long reads come of age. Long-read sequencing grows 32.2% a year and rises from 13.5% to 22.5% of the market, while short-read sequencing by synthesis falls from 69.5% to 57%.
• From the research lab to the clinic. Hospitals and clinical laboratories grow from 25.5% to 34.5% of the market and overtake research institutes. Rapid and critical care genome sequencing is the fastest-growing application at 39.0% a year, and 39 state Medicaid programmes now cover outpatient exome or genome sequencing.
• Geopolitics redraws the supplier map. The BIOSECURE Act and the 1260H list name BGI, MGI and Complete Genomics, whose sale to Swiss Rockets is still pending, while China lifted its export ban on Illumina.
• The US leads, China grows fastest. The US is 41.8% of the market at $1,312 million, and China is the fastest-growing country at 21.9% a year.

Company Analysis: who is positioned, who is exposed

• Illumina: Keeps the largest installed base and clinical position, and answers new rivals with TruPath, a $395 genome with library preparation on the flow cell.
• Element, Ultima and Roche: New high-throughput platforms push the price per genome down, from VITARI and the UG200 Ultra to Roche's AXELIOS.
• PacBio and Oxford Nanopore: Long-read leaders gaining clinical ground as costs approach short-read levels.
• MGI and Complete Genomics: DNA nanoball technology faces US restrictions under BIOSECURE while growing in China and other markets.
• GeneDx, Helix and other clinical laboratories: Volumes grow quickly while prices per test fall; Helix runs whole genome sequencing for Mayo Clinic and Thermo Fisher's Precure venture.

In all, 53 company profiles, each one to two pages with a fact box covering website, headquarters, ownership, revenue, employees and key products.

Questions this report answers

• When will whole genome sequencing take off in routine medical care, and what will start it?
• How fast will long-read and low-cost platforms take share from short-read sequencing?
• Which applications, customers and products will add the most new spending?
• How will BIOSECURE and China change the supplier map?
• Who are the leading platform makers, laboratories and service providers, and how are they positioned?
• How large is each country market, and how fast is China growing?

What's inside

• 323 pages, 23 chapters, 61 tables and 53 figures
• Forecasts for 2027–2031 from a 2026 base year, by application, technology, sequencing scope, customer and product, for 14 countries and regions
• Clinical genomes for rare disease, critical care and newborns, population genomics programmes, the technology landscape, and instruments, reagents, services and bioinformatics
• Regulation, reimbursement and policy, oncology, infectious disease, consumer and agricultural uses, a China and Asia-Pacific chapter, and operations and data
• 10 market-moving developments from 2025 and 2026, SWOT, Porter's Five Forces and strategic recommendations
• 53 company profiles
• Download the Table of Contents (PDF)

Who buys this report

• Sequencing platform and reagent companies: plan capacity, pricing and product strategy for a market that grows steadily before it takes off.
• Clinical laboratory executives and business development teams: size rare disease, critical care, newborn and oncology opportunities and find partners.
• Investors and analysts: judge the timing of the take-off and the effect of price cuts, BIOSECURE and China.
• Health systems and public programmes: plan genomic medicine, newborn screening and population sequencing.

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ABOUT THE LEAD AUTHOR

Mr. Greg Powell, B.Sc., M.B.A., is the President of Howe Sound Research. His education includes:

Finance for Senior Executives - Harvard Business School

Market Research - Burke Institute

M.B.A. (Finance and Policy) - University of British Columbia

B.Sc. (Chemistry) - University of British Columbia

He is an experienced business and clinical professional. He is co-author of the paper "The Radioimmunoassay of Angiotensinogen by Antibody Trapping." He has worked in laboratory testing and management for over 20 years.