Global Genetic Testing Market to Surge to USD 77.64 Billion by 2034, with DNA Sequencing & Genetic Disorder Testing Leading the Way

Genetic Testing Market Overview:

Genetic testing is a medical process that examines a person's DNA to identify changes or mutations in genes, chromosomes, or proteins. It helps detect inherited disorders, assess the risk of developing certain diseases, and guide decisions about prevention, treatment, or family planning. Genetic testing can be used for various purposes, including diagnosing genetic conditions, screening newborns, determining ancestry, and predicting how a person might respond to specific medications. The results can provide valuable insights into an individual's health and support personalized healthcare approaches.

According Straits Research, the global genetic testing market size is estimated at USD 14.49 billion in 2025 and is anticipated to grow from USD 17.41 billion in 2026 till USD 77.64 billion in 2034, growing at a CAGR of 20.55% from 2026 to 2034.

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Market Drivers

Expanding Use of At-Home & Digital Genetic Testing: The report identifies a growing consumer and clinical appetite for at-home and digital genetic testing kits, which democratize access and extend usage beyond hospital settings. These tools empower individuals with personal health insights and facilitate preventive health strategies.

Clinical Guidelines Shift toward Universal cfDNA Screening: Prenatal care standards are evolving. Cell-free DNA (cfDNA) screening,g also known as noninvasive prenatal testing (NIPT), is increasingly being recommended for all pregnancies, not just high-risk ones. The report notes that some clinical guidelines now advocate offering cfDNA screening universally, leading to higher test adoption across geographies.

Reimbursement and Policy Reforms Lowering Barriers: One of the historic constraints on genetic testing was cost and ambiguity in reimbursement. However, recent policy shifts are reshaping this landscape. For example, in March 2024, the U.S. Centers for Medicare and Medicaid Services (CMS) finalized coverage for next-generation sequencing (NGS) in patients with inherited cancers and solid tumors. Additionally, new billing pathways for pharmacogenomic testing (PGx) have emerged. These developments are facilitating greater uptake by converting out-of-pocket expenses into structured reimbursements.

Integration with Advanced Therapies & Precision Medicine: Genetic testing is gaining importance as a gateway to advanced therapies. Gene therapies approved for conditions such as sickle cell disease and spinal muscular atrophy depend on genetic diagnostics to identify eligible patients. Meanwhile, pharmacogenomics testing is increasingly adopted in oncology, cardiology, and neurology to tailor drug treatments; this symbiotic relationship amplifies demand for sequencing and variant analysis.

Growing Investments in Genomics Infrastructure: National genome mapping programs, biobanks, and large-scale population studies are enriching reference datasets and lowering barriers to broader adoption. These initiatives support improved test accuracy, variant interpretation, and clinical relevance, helping to drive genetic testing deeper into healthcare systems.

Market Segments & Trends

Technique: DNA Sequencing Dominates

In 2025, the DNA sequencing segment accounted for 48.72 % of the total market share, making it the leading technique. Its primacy is largely attributable to its essential role in oncology diagnostics, especially in identifying tumor mutations to guide targeted therapies.

Other techniques covered in the report include polymerase chain reaction (PCR), cytogenetics, microarrays, and "others," each serving niche roles based on sensitivity, cost, and operational complexity.

Application: Genetic Disorders & Oncology Lead

The genetic disorders segment is forecasted to grow at the highest CAGR (22.78 %) over 2026-2034, driven by expansion in carrier screening, prenatal diagnostics, and early detection of inherited diseases.

Oncology remains a major application domain, with emphasis on the detection of tumor mutations, minimal residual disease (MRD) monitoring using ctDNA (circulating tumor DNA), and guiding precision therapies. The report notes that oncology guidelines are increasingly incorporating ctDNA assays for MRD, a shift away from imaging-only follow-up, adding momentum to genetic testing adoption.

Other application segments include cardiovascular disease diagnosis, neurological disorders, and miscellaneous indications, each contributing incremental growth.

End User: Hospitals & Clinics Lead

In 2025, hospitals & clinics dominated the market as the primary point of interface for genetic testing. Their integration of genetic counseling, clinical interpretation, and direct patient management gives them an edge over standalone laboratories. Diagnostic laboratories and other end-user groups also play critical roles, especially for high-volume or specialized test offerings.

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Geographic & Regional Insights

North America held the largest regional share in 2025, accounting for 45.16 %, owing to advanced regulatory frameworks, early tech adoption, integrated health systems, and the presence of leading genomics and biotech players.

Asia-Pacific is forecast to be the fastest-growing region, with a CAGR of 23.54 %, fueled by government initiatives, scaling local capabilities, and increasing demand for genetic testing in populous countries like China, Japan, South Korea, and India.

Within the Asia-Pacific region, India is emerging as a key growth market. The report highlights India's expanding biotechnology ecosystem, rising public awareness of preventive genetic screening, and supportive policy developments, including updates in National Rare Disease policy that promote subsidized genetic testing. Collaborations between global sequencing firms and Indian diagnostic labs are further catalyzing uptake in tier-2 and tier-3 cities.

Market Restraints & Challenges

While the outlook is strongly positive, the report acknowledges several impediments:

Data Privacy & Security Concerns: Genetic information is deeply personal and immutable. The report cites surveys in which a significant portion of the public expresses concern about the misuse of genetic data by insurers, employers, or third parties. Past security incidents involving major direct-to-consumer firms have heightened these apprehensions and may slow adoption.

Cost & Infrastructure Barriers: High upfront investment, complex validation and staffing needs, and uneven infrastructure in developing regions may limit penetration, especially for advanced tests.

Regulatory and Standardization Complexity: Variability in regulatory regimes across countries, inconsistent standards for interpretation, and challenges in cross-border data sharing can hinder global scale-up.

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Competitive Landscape & Recent Developments

The genetic testing market is highly fragmented, with numerous established players and emerging specialists. Leading industry participants include:

Illumina, Inc.
Thermo Fisher Scientific Inc.
Hoffmann-La Roche Ltd
Myriad Genetics, Inc.
Quest Diagnostics
Labcorp
Exact Sciences Corporation
MedGenome
Abbott
QIAGEN
MapmyGenome
Tellmegen, Igenomix
others

Some recent developments highlighted in the report:

June 2025: Myriad Genetics introduced early access to its FirstGene Multiple Prenatal Screen, pushing into advanced prenatal diagnostic offerings.

May 2025: Gene Solutions, a prenatal and oncology genetic testing firm, partnered with NEWCL Biomedical Laboratory to establish an NGS facility in Taiwan, expanding capabilities and regional presence.

2024 Acquisition: India-based MedGenome acquired a stake in Odisha's diagnostic chain GenX Diagnostics, increasing penetration into underserved markets, especially tier-2 and tier-3 cities, and integrating genomics into broader clinical networks.

Companies in the sector are actively pursuing collaborations, technological partnerships, product approvals, acquisitions, and geographic expansion to solidify positioning in this fast-growing market.

Outlook & Strategic Opportunities

Looking ahead, the following pathways are expected to define value creation in the genetic testing domain:

Strategic Partnerships & Platform Integration: Alliances combining variant analysis, polygenic risk scoring, and clinical decision tools can deliver more comprehensive, actionable results. For example, recent partnerships aim to integrate rare variant detection with risk stratification.

Scale & Cost Optimization: Achieving economies of scale in sequencing, reagent procurement, and lab automation will be critical to reducing per-test costs and pushing adoption in emerging markets.

Interoperability & Data Ecosystems: Embedding genetic test results into electronic health record (EHR) systems, coupled with AI and decision-support analytics, can enhance clinical utility, cascade screening, and longitudinal health management.

Privacy, Consent & Trust Frameworks: Transparent data governance, consent mechanisms, encryption, and anonymization will help address public concerns and foster trust in genetic medicine.

Market Expansion into Developing Regions: Tailoring pricing models, public-private collaborations, and outreach programs can accelerate adoption in regions with unmet need and rising healthcare investment, particularly in Asia, Latin America, and parts of Africa.

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List of Related Reports:

Rare Disease Genetic Testing Market Size: https://straitsresearch.com/report/rare-disease-genetic-testing-market

Direct-to-Consumer Genetic Testing Market Size: https://straitsresearch.com/report/direct-to-consumer-genetic-testing-market

Cancer Genetic Testing Market Size: https://straitsresearch.com/report/cancer-genetic-testing-market

Preimplantation Genetic Testing Market Size: https://straitsresearch.com/report/preimplantation-genetic-testing-market

Microarray Analysis Market Size: https://straitsresearch.com/report/microarray-analysis-market

DNA Sequencing Market Size: https://straitsresearch.com/report/dna-sequencing-market

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