Molecular Diagnostics In Pharmacogenomics Market (2025 - 2033) Size, Share & Trends Analysis Report By Product (Kits & Assays, Reagents, Services), By Therapeutic Area, By Technology, By Region, And Segment Forecasts

Molecular Diagnostics In Pharmacogenomics Market Summary

The global molecular diagnostics in pharmacogenomics market size was estimated at USD 699.7 million in 2024 and is projected to reach USD 1, 256.38 million in 2033, growing at a CAGR of 6.84% from 2025 to 2033. This market focuses on rapid and precise genetic testing that enables tailored drug therapy, improving clinical outcomes and reducing adverse drug reactions.

Molecular diagnostics play a central role in identifying patient-specific genetic variations and are widely adopted in areas such as oncology, cardiovascular conditions, infectious diseases, and neurological disorders. Product offerings within the market span across kits, reagents, and specialized testing services, each addressing different stages of pharmacogenomic workflows. Kits and reagents are widely used in clinical laboratories and research institutions for routine and specialized assays. Services are expanding in relevance due to the need for comprehensive interpretation, bioinformatics support, and regulatory-compliant testing. The oncology segment dominates the therapeutic landscape, with lung, breast, and colorectal cancers accounting for significant test volumes, while emerging interest is observed in neurological and immunological disorders.

In terms of technology, polymerase chain reaction (PCR) remains the most widely used method due to its cost-effectiveness and speed. Sequencing technologies, particularly next-generation sequencing (NGS), are gaining ground for their ability to analyze multiple genes simultaneously. Microarrays and other methods like electrophoresis and nucleic acid amplification techniques also contribute to the testing ecosystem. Continuous innovation, along with rising awareness of gene-drug interactions and expanding access to genomic services globally, is expected to reinforce the growth of this market over the forecast period.

Moreover, at AAN’s Annual Meeting in April 2025, leading neurologists underscored the emergent role of pharmacogenomics in neurology. By focusing on genetic drivers across diseases like Alzheimer’s, Parkinson’s, stroke, migraine, and multiple sclerosis, experts envisioned a paradigm shift toward genetically guided treatment selection, with the potential to enhance efficacy and reduce adverse events. These insights point to a growing clinical demand for PGx-enabled molecular diagnostics in neurological care a development reflecting the broader trend of sequencing-based precision diagnostics being adopted beyond traditional therapeutic boundaries.

Overall, the innovation landscape in the molecular diagnostics in pharmacogenomics industry reflects a shift toward faster, more accessible, and clinically actionable testing solutions. The integration of advanced technologies such as AI, point-of-care systems, and multi-omics platforms is expanding the utility of PGx diagnostics beyond traditional hospital settings, supporting broader adoption across diverse therapeutic areas.

Market Concentration & Characteristics

Innovation is high in the molecular diagnostics in pharmacogenomics industry, driven by the demand for rapid, accurate, and gene-targeted testing solutions. Advancements in sequencing technologies, microfluidics, and digital platforms have enhanced multiplex testing and integration with clinical workflows. The market is also witnessing increased interest in portable and decentralized diagnostics that support real-time decision-making and patient-specific treatment selection.

Mergers and acquisitions are moderately active, with larger companies acquiring smaller firms to strengthen their capabilities in pharmacogenomic testing. These activities often focus on accessing proprietary gene panels, expanding bioinformatics resources, or entering new therapeutic areas. Collaborations with pharmaceutical and digital health companies are also rising, aiming to accelerate product development and improve clinical utility.

Regulatory frameworks play a key role in shaping the adoption of pharmacogenomic diagnostics. Agencies such as the U.S. FDA and EMA require stringent validation and clinical evidence for test approval. Global regulatory trends are moving toward structured guidelines for pharmacogenomic reporting and clinical application. Compliance with region-specific standards remains critical for commercialization and reimbursement.

Companies are expanding their molecular diagnostic portfolios to include broader gene panels across multiple therapeutic domains. Test platforms now emphasize modularity, multiplex capability, and ease of use to support diverse clinical environments. Integration with decision-support software and cloud-based analytics is becoming more common, aligning with the shift toward personalized and precision medicine.

While North America and Europe are mature markets with established infrastructure and clinical integration, growth opportunities are expanding across Asia-Pacific, Latin America, and the Middle East. Factors such as improved healthcare access, rising awareness of pharmacogenomics, and supportive government initiatives are contributing to regional market development. Companies are increasingly forming local partnerships to improve affordability and distribution.

Product Insights

The kits and assays segment led the market with the largest revenue share of 48.05% in 2024, supported by their essential role in enabling accurate, reproducible, and timely pharmacogenomic testing across various therapeutic areas. These products form the backbone of molecular diagnostics workflows, providing standardized consumables for genotyping, sequencing, and amplification processes. Their widespread use across both centralized labs and decentralized testing setups reflects their flexibility, reliability, and compatibility with clinical decision-making protocols. In particular, assay kits tailored to drug-gene interactions help clinicians predict patient-specific drug responses, reduce adverse effects, and support precision prescribing.

In June 2025, Chicago-based Gene Matrix launched its GenePGx pharmacogenomics test in Slovenia, expanding access to AI-enabled kits designed to identify gene variants relevant to medication selection and dosing decisions (source). This launch exemplifies the increasing adoption of commercial pharmacogenomic assay kits outside traditional markets, as healthcare systems in Europe and beyond aim to integrate personalized medicine into routine care. The ongoing shift toward decentralized testing, combined with demand for rapid, scalable, and clinically actionable solutions, continues to strengthen the position of kits and assays within the global market.

The reagents segment is expected to grow at the fastest CAGR during the forecast period, supported by rising demand for consistent, high-performance components used in pharmacogenomic testing workflows. Reagents are essential for sample preparation, amplification, and sequencing processes in both PCR and NGS-based platforms. As molecular diagnostics become more integrated into routine clinical care, particularly in oncology, cardiology, and neuropsychiatry, the need for scalable and reliable reagent solutions has grown. The expansion of personalized medicine initiatives, along with the adoption of multiplex and cartridge-based assays, has further driven the consumption of specialized reagents across centralized labs and decentralized care settings.

Therapeutic Area Insights

The infectious diseases segment accounted for the largest market revenue share in 2024. This dominance is driven by the clinical need for precise, genotype-guided treatments in managing infections such as HIV, hepatitis, and tuberculosis. Pharmacogenomic diagnostics are increasingly utilized to tailor drug regimens, minimize adverse reactions, and support medication efficacy in infectious disease management. Broader integration of these tools across healthcare systems has been supported by the widespread burden of viral infections and the prioritization of genomic-guided care in public health initiatives. Diagnostic laboratories and clinical providers continue to adopt pharmacogenomic approaches to address drug resistance and treatment complexity in infectious diseases.

In February 2025, a report published in The American Journal of Managed Care highlighted the standard use of HLA-B*57:01 screening prior to prescribing abacavir in HIV-positive patients. This pharmacogenomic strategy helps prevent hypersensitivity reactions. This guideline-based testing is increasingly embedded in HIV treatment protocols across multiple healthcare systems. The report emphasized that this integration not only improves patient safety but also demonstrates the expanding role of pharmacogenomics in infectious disease care.

The oncology segment is projected to grow at the fastest CAGR during the forecast period. The segment’s growth is supported by rising adoption of personalized medicine approaches in cancer care, which rely heavily on pharmacogenomic insights to guide therapy selection and monitor treatment responses. Molecular diagnostics are increasingly used to identify actionable mutations across cancer types such as lung, breast, colorectal, and cervical cancers, enabling more precise and effective use of targeted therapies. These tools support early detection and drug efficacy assessment while helping reduce the risk of adverse drug reactions in oncology patients.

The shift toward broad molecular profiling and multi-gene panels is contributing to the segment’s rapid expansion. As healthcare systems prioritize treatment strategies based on individual genetic profiles, pharmacogenomic testing is becoming an integral part of oncology workflows. Continued integration of these diagnostics across hospital settings and outpatient oncology clinics is expected to strengthen the segment's trajectory.

Technology Insights

The PCR segment led the market with the largest revenue share of 38.09% in 2024. PCR-based methods remain a preferred choice due to their high sensitivity, specificity, and efficiency in detecting genetic variations that influence drug response. These tools are widely used in both clinical and research settings to analyze gene-drug interactions and support decisions related to medication efficacy and safety. Their compatibility with small sample volumes, ability to deliver quick results, and cost-effectiveness continue to drive their adoption in routine pharmacogenomic screening.

Moreover, PCR platforms are increasingly integrated into automated workflows that enable scalable and standardized testing across hospitals, diagnostic labs, and personalized medicine programs. The availability of multiplex PCR formats and real-time PCR technologies has further strengthened their relevance in pharmacogenomic applications, particularly for genes involved in drug metabolism and transport. The segment’s dominance is also supported by efforts to streamline clinical workflows and make pharmacogenomic testing more accessible across diverse healthcare settings.

The sequencing segment is projected to witness at the fastest CAGR during the forecast period. This trend is driven by the rising adoption of next-generation sequencing (NGS) technologies, which enable comprehensive analysis of gene variants influencing drug response. Sequencing allows clinicians to assess multiple pharmacogenomic markers simultaneously, improving treatment precision and patient outcomes. Its application is expanding across oncology and chronic disease care, supported by declining costs, enhanced throughput, and growing acceptance in clinical guidelines. These factors collectively contribute to the segment’s accelerated uptake across diverse healthcare settings.

Regional Insights

North America molecular diagnostics in pharmacogenomics market dominated the global industry with the largest revenue share of 38.72% in 2024, supported by widespread clinical use of genetic testing and robust healthcare infrastructure. The region benefits from strong regulatory support, increasing focus on personalized medicine, and high adoption of PCR and sequencing-based tests, particularly in oncology and infectious disease diagnostics. Favorable reimbursement for specific gene–drug interactions and availability of pharmacogenomic panels across diagnostic laboratories have contributed to sustained regional leadership.

In June 2025, a review published in Clinical Pharmacology & Therapeutics highlighted that Medicare now provides coverage for pharmacogenetic testing linked to over 100 medications across 40 U.S. states. This reimbursement expansion reflects growing institutional support for molecular diagnostics in pharmacogenomics. The coverage is primarily facilitated through Local Coverage Determinations (LCDs) that reference Clinical Pharmacogenetics Implementation Consortium (CPIC) Level A and B gene-drug pairs. In addition, there are ongoing considerations to extend this reimbursement framework to the remaining ten states, signaling continued progress toward nationwide coverage.

U.S. Molecular Diagnostics in Pharmacogenomics Market Trends

The molecular diagnostics in pharmacogenomics market in the U.S. accounted for the largest market revenue share in North America in 2024, driven by its advanced laboratory infrastructure, integration of pharmacogenomic testing into clinical decision-making, and strong emphasis on precision medicine. Broad availability of next-generation sequencing and PCR-based platforms across hospitals and specialized centers has supported widespread adoption. Government initiatives promoting personalized treatment strategies and streamlined regulatory pathways have further strengthened the country's dominant position in the regional market.

Europe Molecular Diagnostics in Pharmacogenomics Market Trends

The molecular diagnostics in pharmacogenomics market in Europe is anticipated to witness at a steady CAGR during the forecast period, supported by the rising demand for decentralized testing and expanding adoption of personalized medicine strategies. Countries such as Germany, France, and the UK are driving uptake, aided by structured healthcare systems, national screening initiatives, and increasing use of molecular platforms for infectious and chronic diseases. Wider acceptance of self-testing tools, along with integration of digital health technologies, is further facilitating implementation across both hospital and outpatient care environments.

The UK molecular diagnostics in pharmacogenomics market is expected to grow with the expanding adoption of personalized medicine and the integration of pharmacogenetic insights into routine clinical workflows. National programs supporting genomics, such as the NHS Genomic Medicine Service, are facilitating broader access to molecular testing, particularly for oncology and cardiovascular conditions. The market benefits from academic–clinical collaborations and government-backed initiatives that promote the use of sequencing and targeted panels to inform drug response. With regulatory alignment through NICE guidelines and pilot pharmacogenomics services being rolled out across the NHS, the country is progressively incorporating molecular diagnostics into population-scale care models.

The molecular diagnostics in pharmacogenomics market in Germany is contributing significantly through its robust healthcare infrastructure and commitment to precision medicine. National initiatives such as the Medizininformatik-Initiative and widespread adoption of electronic health records are supporting the integration of PGx data into clinical workflows. In addition, increasing demand for molecular testing in infectious diseases and oncology, combined with active reimbursement pathways and a digitally connected care ecosystem, is reinforcing Germany’s role in expanding pharmacogenomic diagnostics across diverse clinical settings.

Asia Pacific Molecular Diagnostics in Pharmacogenomics Market Trends

The molecular diagnostics in pharmacogenomics market in Asia Pacific is expected to grow at the fastest CAGR of 8.20% during the forecast period, supported by rising healthcare investments, broader access to genomic services, and the growing demand for personalized medicine. Countries such as China, India, Japan, and South Korea are actively strengthening molecular diagnostic capabilities across clinical and outpatient settings. In addition, awareness of pharmacogenomics in the management of chronic diseases, including cancer, psychiatric disorders, and cardiovascular conditions, is contributing to increased adoption. Efforts to expand genomic infrastructure and promote precision medicine across urban and semi-urban healthcare systems are further reinforcing regional market growth.

In October 2024, Agilus Diagnostics introduced India’s first integrated pharmacogenomics testing service designed around a broad exonic variant panel. Covering 59 pharmacogenomic genes and 194 drugs, the service focuses on common genetic variants within the Indian population to guide individualized treatment decisions in areas such as oncology, cardiology, endocrinology, psychiatry, and neurology. This launch highlights the rising clinical and institutional emphasis on minimizing adverse drug reactions and improving treatment outcomes through molecular diagnostics in the Asia Pacific region.

The Japan molecular diagnostics in pharmacogenomics market is witnessing growing, supported by its advanced healthcare infrastructure and government-led precision medicine initiatives. Efforts such as the Implementation of Genomic Medicine project and expanded use of next-generation sequencing in clinical practice are fostering the integration of PGx testing into routine care. The country is focusing on applying molecular diagnostics to optimize therapies for cancer, cardiovascular, and neuropsychiatric conditions. Growing collaborations between academic institutions and diagnostic laboratories are further strengthening the availability of gene-drug interaction data tailored to the Japanese population, reinforcing Japan’s role as a key contributor to the regional market.

The molecular diagnostics in pharmacogenomics market in China is expanding rapidly, driven by government-backed precision medicine initiatives like the China Precision Medicine Initiative and Health China 2030. This has accelerated infrastructure development for genomic diagnostics nationwide. Leading hospitals in oncology and cardiovascular care are now using pharmacogenomic testing, such as CYP2C19-guided antiplatelet therapy, and research efforts are ongoing in neurology. Simultaneously, domestic providers, including MGI (formerly part of BGI), are developing PCR- and NGS-based PGx panels tailored to Chinese population genetics. Together, these developments are boosting the commercialization and adoption of pharmacogenomic testing across the country.

Latin America Molecular Diagnostics in Pharmacogenomics Market Trends

The molecular diagnostics in pharmacogenomics market in Latin America is experiencing gradual growth, supported by rising awareness of personalized medicine and efforts to strengthen diagnostic capacity. Countries such as Brazil and Argentina are incorporating molecular diagnostics in clinical care, particularly for oncology and therapeutic areas like psychiatry and cardiology, where pharmacogenomic applications are gaining relevance. Although infrastructure and reimbursement limitations persist, pilot programs and collaborations with academic and research institutions are facilitating the introduction of PGx testing in both public and private healthcare systems. These initiatives are contributing to the region’s gradual adoption of pharmacogenomics-based diagnostics.

The Brazil molecular diagnostics in pharmacogenomics market is seeing steady growth, driven by national research funding and the integration of genomic tools into select healthcare programs. The country’s Genomas Brasil initiative aims to build a national genomic database, supporting personalized medicine strategies that include pharmacogenomic testing. Public institutions and leading hospitals are applying molecular diagnostics in oncology and cardiovascular care to inform drug selection and improve treatment outcomes. While reimbursement and access barriers persist, ongoing partnerships between academic centers, public health agencies, and private laboratories are gradually expanding the reach of PGx diagnostics across the country.

Middle East & Africa Molecular Diagnostics in Pharmacogenomics Market Trends

The molecular diagnostics in pharmacogenomics market in the Middle East and Africa (MEA) region is witnessing emerging interest, supported by growing investment in precision medicine and genomic research. Countries such as the UAE and Saudi Arabia are advancing national genomics strategies, which include incorporating pharmacogenetic testing into broader healthcare modernization efforts. Although adoption remains limited across much of the region due to infrastructure and cost constraints, select tertiary care centers and academic collaborations are introducing PGx diagnostics in areas such as oncology and cardiology, contributing to early market development.

Key Molecular Diagnostics In Pharmacogenomics Company Insights

Key participants in the molecular diagnostics in pharmacogenomics industry are prioritizing new product development and obtaining regulatory approvals to diversify their portfolios. In addition, companies are engaging in partnerships, collaborations, mergers, and acquisitions to reinforce their position within the market. These strategies are directed toward expanding technological capabilities, extending geographic access, and improving the availability of pharmacogenomic diagnostic tools across varied care environments.

Recent Developments

• In April 2025, Illumina and Tempus AI announced a strategic partnership aimed at advancing precision medicine through AI-driven genomic innovation. This collaboration focuses on expanding the clinical utility of molecular diagnostics in pharmacogenomics by integrating Illumina’s AI-enabled sequencing platforms with Tempus’s real-world multimodal data. The initiative supports broader adoption of PGx diagnostics across therapeutic areas such as oncology, cardiology, and neurology by generating robust clinical evidence, streamlining regulatory pathways, and enhancing data-informed drug selection strategies.

• In February 2025, Global Precision Diagnostics signed a Memorandum of Understanding with Sunway Multicare Pharmacy and ReGen Rehab Hospital to deliver clinical pharmacogenomic services in Malaysia. The partnership focuses on expanding access to PGx testing through the PRECISE Pharmacogenomics platform, supporting safer and more personalized treatment by integrating molecular diagnostics into both pharmacy and rehabilitation care settings.

• In October 2024, QIAGEN Digital Insights introduced a pharmacogenomics knowledge base named Pharmacogenomic Insights (PGXI). Designed for scientific and medical researchers, PGXI enables interpretation of gene–drug interactions by integrating expert-curated data from sources such as CPIC, FDA, and PharmVar. The tool supports pharmacogenomic diagnostics by streamlining annotation workflows and aiding in the analysis of results from sequencing and array platforms, contributing to the expansion of molecular diagnostics in pharmacogenomics.

Molecular Diagnostics In Pharmacogenomics Market Report Scope

Global Molecular Diagnostics In Pharmacogenomics Market Report Segmentation

This report forecasts revenue growth and provides an analysis on the latest trends in each of the sub-segments from 2021 to 2033. For this report, Grand View Research has segmented the global molecular diagnostics in pharmacogenomics market report based on the product, therapeutic area, technology, and region:

• Product Outlook (Revenue, USD Million, 2021 - 2033)

  • Kits and assays

  • Reagents

  • Services

• Therapeutic Area Outlook (Revenue, USD Million, 2021 - 2033)

  • Oncology

    • Lung Cancer

    • Breast Cancer

    • Colorectal Cancer

    • Cervical Cancer

    • Others

  • Neurological Disorders

  • Cardiovascular Disease

  • Immunological Disorders

  • Infectious Diseases

  • Others

• Technology Outlook (Revenue, USD Million, 2021 - 2033)

  • PCR

  • Microarray

  • Sequencing

  • Others

• Regional Outlook (Revenue, USD Million, 2021- 2030)

  • North America

    • U.S.

    • Canada

    • Mexico

  • Europe

    • Germany

    • UK

    • France

    • Italy

    • Spain

    • Denmark

    • Sweden

    • Norway

  • Asia Pacific

    • Japan

    • China

    • India

    • Australia

    • South Korea

    • Thailand

  • Latin America

    • Brazil

    • Argentina

  • Middle East and Africa (MEA)

    • South Africa

    • Saudi Arabia

    • UAE

    • Kuwait