Genetic Testing Market Size & Share Analysis - Growth Trends and Forecast (2026 - 2031)

Global Genetic Testing Market Trends and Insights

Rapid Adoption of NIPT & Newborn Screening

Commercial payers in the United States covered NIPT for trisomies 13, 18, and 21 without prior authorization by 2025, lifting penetration above 80%.^{[1]UnitedHealthcare Editorial Team, “Prior Authorization Requirements for Non-Invasive Prenatal Testing,” UnitedHealthcare Provider, uhcprovider.com} Thirty states simultaneously expanded newborn panels to 35 core conditions, boosting demand for Natera Panorama and PerkinElmer platforms. Updated American College of Obstetricians and Gynecologists guidance designated NIPT as a first-tier option for all pregnancies in 2024, removing risk-based barriers.^{[2]ACOG Advocacy Team, “Non-Invasive Prenatal Testing,” American College of Obstetricians and Gynecologists, acog.org} The shift converted prenatal testing from niche to universal coverage, shortening reimbursement cycles and enabling direct-to-consumer channels. China began reimbursing NIPT in tier-1 cities in 2025, yet rural provinces remain self-pay, creating uneven adoption.

Mainstream Insurance Coverage for Multigene Panels

Medicare added BRCA1/2, PALB2, and ATM to its hereditary cancer panel coverage in 2024, aligning with NCCN guidelines. Commercial payers followed by reimbursing 25- to 80-gene panels for eligible members, pushing Myriad MyRisk and Invitae volumes up 40% year-over-year. Average panel reimbursement settled near USD 250, down steeply from historical levels, making proactive testing financially attractive to payers focused on avoiding late-stage cancer costs. Germany still limits BRCA testing to post-diagnosis use, curbing preventive uptake.

Falling NGS Cost below USD 100/Genome

Illumina’s NovaSeq X Plus reached USD 200 per genome in 2024, and the firm projects sub-USD 100 pricing by 2028 as chemistry and throughput improve.^{[3]Illumina Newsroom, “Illumina's Revolutionary NovaSeq X Exceeds 200th Order Milestone in First Quarter 2023,” Illumina Investor Relations, investor.illumina.com} Competing releases from Complete Genomics and BGI are targeting the same benchmark in 2025. Lower costs enable population-scale projects such as the NHS Genomic Medicine Service, which sequenced 500,000 genomes by 2025 and reported actionable findings in 25% of participants. India’s 10,000-genome pilot launched in 2025 at sub-USD 500 per sample, illustrating the democratization of sequencing.

Cloud-Based AI Genomic Interpretation Ecosystems

Illumina DRAGEN on Microsoft Azure cut variant calling from 24 hours to 30 minutes in 2025, supporting same-day neonatal results. Nvidia Clara Parabricks lowers compute costs by 60% versus CPU pipelines, letting regional labs rent capacity instead of buying servers. The FDA released draft guidance on AI-driven genomic software in 2024, clarifying compliance pathways for cloud platforms. Interoperability hurdles persist because proprietary data formats require middleware for seamless EHR integration in resource-constrained sites.

Cross-Border Data Sovereignty Restrictions

The EU Health Data Space regulation effective May 2025 mandates EU server residency for genomic data, fragmenting multinational datasets. China’s rules likewise require domestic storage and government approval for sharing human genetic material abroad, limiting global collaboration. These policies raise compliance costs as labs must maintain separate infrastructures and navigate conflicting consent frameworks, delaying cross-border assay launches.

Skilled Genetic Counselor Shortages

Only about 7,000 certified counselors serve a global testing volume topping 10 million annually. The American Board of Genetic Counseling graduated 400 professionals in 2025, far short of demand. Tele-counseling expands reach, yet reimbursement remains patchy, especially across U.S. Medicaid programs. Emerging economies such as India have fewer than 50 counselors, forcing labs to rely on clinicians who lack bandwidth for in-depth guidance, thereby prolonging test ordering and elevating misinterpretation risk.

Segment Analysis

By Product & Service: Software Scales Interpretation Bottlenecks

Consumables and reagents held 37.57% of 2025 revenue, reinforcing their role as the consumable backbone of the genetic testing market. Software and services, however, will advance at a 14.57% CAGR to 2031 as interpretation rather than sequencing becomes the primary bottleneck. The genetic testing market size for software offerings is projected to widen as laboratories shift from high-capex servers to cloud subscriptions billed below USD 50,000 per year. EU IVDR rules that require CE-marked interpretation software further drive migration away from in-house pipelines. Equipment sales face semiconductor delays that stretch instrument lead times to a year, but reagent purchases remain recurring and predictable. 

Recurring revenue models improve vendor cash flows while lowering startup costs for mid-tier labs. Each NovaSeq X shipped in 2025 consumes roughly USD 1 million in reagents annually at full utilization, creating annuity-like sales for Illumina. Software vendors monetize variant databases through tiered analytics, enabling community hospitals to run pan-cancer panels without dedicated bioinformaticians. Genetic testing industry players offering bundled counseling, interpretation, and billing support gain a competitive edge with payers that assess total episode cost.

Note: Segment shares of all individual segments available upon report purchase

By Test Type: Carrier Screening Extends Beyond Ancestry-Based Panels

Prenatal and newborn assays accounted for 36.25% in 2025, yet carrier screening is poised to grow at 13.34% CAGR as guidelines shift toward pan-ethnic panels. The genetic testing market size for carrier screening will broaden because expanded menus now cover over 400 conditions, replacing earlier Ashkenazi-focused offerings. Diagnostic testing remains high-volume but faces price pressure as exome sequencing displaces single-gene assays. Predictive panels continue to benefit from Medicare and commercial payer coverage, although uptake among unaffected adults remains modest due to privacy concerns despite GINA protections.

Expanded carrier screening surged after ACMG recommended universal panels in 2024. Adoption among fertility clinics rose 50% in 2025 for Natera Horizon. Payers, however, increasingly demand evidence of negative targeted tests before approving exome claims, a dynamic that pushes patients through stepwise testing. Pharmacogenomic panels advance at roughly 10% CAGR, but lack of EHR decision support slows physician adoption. Direct-to-consumer ancestry tests saw contraction in 2024 as privacy concerns drove 23andMe to pivot away from therapeutics and cut staff.

By Technology: NGS Dominates While Long-Read Platforms Enter Clinics

Next-generation sequencing captured 46.13% of technology revenue in 2025 and is expected to retain double-digit growth. Cost declines and multi-gene flexibility make NGS the default for oncology and rare disease diagnostics. Polymerase chain reaction retains niches in high-throughput single-gene testing, while microarray use contracts as NIPT supplants it in prenatal care. Cytogenetic techniques and FISH remain standard for certain hematologic disorders due to rapid turnaround and established reimbursement.

Long-read sequencing moved from research to clinics when Pacific Biosciences Revio cut per-genome costs to USD 1,000 in 2024. Oxford Nanopore’s MinION devices, deployed in field outbreaks, underscore NGS versatility in infectious disease surveillance. Guardant360 CDx and similar assays exemplify NGS utility in liquid biopsy, reducing tissue-based turnaround from 14 days to 7 days. The genetic testing market share for NGS will therefore expand as both short- and long-read platforms climb clinical adoption curves.

Note: Segment shares of all individual segments available upon report purchase

By Application: Oncology Surpasses Genetic Disease Diagnosis in Growth Pace

Genetic disease diagnosis topped 39.63% in 2025, yet oncology testing is projected to register a 13.88% CAGR, the highest among applications. Liquid biopsy assays tap large addressable populations; Medicare coverage for Natera Signatera in colorectal and breast cancer scaled eligible patients tenfold in 2024. Early detection tests such as Exact Sciences Cologuard Plus broaden screening beyond colonoscopy.

Reproductive health remains robust but is nearing saturation in developed markets, shifting future growth to emerging regions where reimbursement is debuting. Direct-to-consumer wellness testing declined as consumer trust eroded. Pharmacogenomics lags because clinical decision support integration into EHRs is incomplete, though over 300 drug labels carry FDA pharmacogenomic guidance.

By End User: Research Institutes Lead Population Genomics

Hospitals and clinics generated 42.41% of 2025 revenue by embedding genetic services into integrated care pathways. Diagnostic laboratories face squeezed margins as payers negotiate bundled pricing and hospitals repatriate testing. Research and academic institutes, however, will post a 12.21% CAGR thanks to population genomics projects such as the U.S. All of Us, which enrolled 500,000 participants by 2025.

Hospital systems like Mayo Clinic embed pharmacogenomics into e-prescribing, automatically flagging gene-drug interactions for prescriptions such as warfarin. Research campuses, led by the Broad Institute, sequenced 100,000 genomes in 2025 alone, fueling demand for high-throughput services. Laboratories lacking capital for IVDR compliance are expected to consolidate, redirecting market share to better-funded research centers and large hospital groups.

Note: Segment shares of all individual segments available upon report purchase

Geography Analysis

North America retained 43.13% of 2025 revenue in the genetic testing market and will rise at 9.8% CAGR through 2031. Medicare and major insurers reimburse hereditary cancer, NIPT, and liquid biopsy assays, while employers broaden genomic wellness benefits. The FDA cleared 12 genetic tests in 2024, cutting approval cycles from 18 to 9 months under its Precision Medicine Initiative. Canada reimburses DPYD genotyping in Ontario and British Columbia, whereas Mexico remains largely self-pay, restricting access to urban private facilities.

Asia-Pacific is forecast to log a 12.63% CAGR, underpinned by China’s national sequencing infrastructure and India’s expanding diagnostics network. BGI runs the world’s largest sequencing hub, processing over 1 million samples monthly and launching a USD 100 genome service in 2025. Japan reimburses comprehensive genomic profiling for advanced cancer; India’s leading chains offer NIPT at USD 300, one-third U.S. prices. South Korea added BRCA testing in 2024, and Australia reimburses pharmacogenomics for thiopurine drugs at AUD 150 (USD 100).

Europe reshapes the laboratory landscape. Germany reimburses hereditary cancer panels at EUR 1,500 (USD 1,650); the U.K. NHS sequenced 100,000 cancer genomes with 30% actionable findings. France invested EUR 670 million (USD 737 million) in its Genomic Medicine Plan. Middle East and Africa will grow 11% CAGR, led by the UAE’s plan to sequence 1 million Emirati genomes by 2030. South America advances at 10.5% CAGR, with Brazil’s Fleury and Dasa introducing hereditary panels at BRL 3,000 (USD 600).