Genetic Testing Market by Product (Consumables & Equipment, Software & Services), Test Type (Carrier Testing, Diagnostic Testing, New Born Screening), Technology, Application, Distribution Channel, End-User - Global Forecast 2024-2030

Genetic Testing Market by Product (Consumables & Equipment, Software & Services), Test Type (Carrier Testing, Diagnostic Testing, New Born Screening), Technology, Application, Distribution Channel, End-User - Global Forecast 2024-2030


The Genetic Testing Market size was estimated at USD 11.89 billion in 2023 and expected to reach USD 13.55 billion in 2024, at a CAGR 14.01% to reach USD 29.79 billion by 2030.

Genetic testing comprises a diverse range of products and services to analyze an individual's DNA to identify specific genes, chromosomes, or proteins linked to inherited traits, disease predispositions, or therapeutic responses. Various sectors, including clinical diagnostics, pharmaceutical research and development, biotechnology innovation, forensics, nutrigenomics, and direct-to-consumer services, are important business sectors in this market. Several factors have contributed to the significant growth of the genetic testing market in recent years. These include advancements in DNA sequencing technologies such as next-generation sequencing (NGS), increased awareness about early diagnosis benefits through genetic testing, growing prevalence of genetic disorders, an aging population, rising demand for personalized medicine, expanding use of direct-to-consumer genetic testing services, and supportive government policies coupled with favorable reimbursement scenarios. Emerging opportunities within the genetic testing market involve integrating with other cutting-edge technologies such as artificial intelligence (AI), big data analytics, and telemedicine platforms; entering high-growth markets such as Asia-Pacific; fostering public-private partnerships to bolster genomic research initiatives; applying precision medicine programs tailored to individual genetic profiles; and using liquid biopsy technology for early cancer detection via circulating tumor DNA (ctDNA) in blood samples. Nevertheless, the growth potential is hampered by several limitations and challenges that include ethical concerns regarding privacy issues and misuse of genetic information; insufficient public awareness about genetic testing's significance; affordability constraints due to high costs of advanced tests for certain segments of the population; inconsistent guidelines and regulations across countries; concerns over false results leading to misinterpretation by healthcare professionals and patients alike; and workforce shortage in areas such as certified genetic counselors.

Innovation and research efforts in the genetic testing market should be geared towards developing novel gene-editing technologies such as CRISPR-Cas9 for precision editing capabilities, enhancing bioinformatics tools for better interpretation of vast genomic data generated by high-throughput sequencing platforms, exploring new applications in non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA); discovering unique biomarkers for disease conditions that can be targeted through pharmacogenomics approaches; and expanding into fields such as environmental genomics to assess individual responses to various environmental factors.

Regional Insights

The advanced healthcare infrastructure and strong government support for research and development in the Americas have led to a thriving genetic testing market. However, regulatory challenges remain as manufacturers must adhere to strict guidelines set by agencies such as the Food Drug Administration (FDA). Europe presents a diverse landscape with varying regulations across its member countries. The UK's Brexit has caused uncertainty in its regulatory framework. Manufacturers or providers must tailor their strategies to each country's specific requirements. The Middle East & Africa have potential for genetic testing providers due to growing populations and the increasing prevalence of chronic diseases. However, limited healthcare infrastructure and a lack of awareness about genetic testing services create challenges for entry into these markets. The APAC region offers major growth opportunities within China, Japan, and India as their large patient populations require accurate diagnosis and proactive management of hereditary conditions. Despite regulatory hurdles similar to those in developed countries, there is room for innovation catering to local context needs. Genetic testing is becoming vital to personalized medicine and preventive healthcare in developed countries; however, navigating complex regulations is crucial. In emerging countries, where potential lies for market expansion investment in local partnerships, educational initiatives, and infrastructure development. Recent news highlights collaborations aimed at improving offerings within the genetic testing market. Global genetic testing offers numerous opportunities to stay informed about regional trends and adapt strategies accordingly, ultimately contributing meaningfully to public health outcomes worldwide.

Market Insights
  • Market Dynamics

    The market dynamics represent an ever-changing landscape of the Genetic Testing Market by providing actionable insights into factors, including supply and demand levels. Accounting for these factors helps design strategies, make investments, and formulate developments to capitalize on future opportunities. In addition, these factors assist in avoiding potential pitfalls related to political, geographical, technical, social, and economic conditions, highlighting consumer behaviors and influencing manufacturing costs and purchasing decisions.
    • Market Drivers
      • Prevalence of genetic and oncology disorders and need for precision medicine
      • Government initiatives for genetic testing and rise of self-test kits
      • Market Restraints
        • Concerns associated with false positives & negatives of genetic tests
        • Market Opportunities
          • Ongoing research and new developments in genetic testing technologies
          • Emergence of genetic testing with telehealth and digital health platforms
          • Market Challenges
            • Logistical barriers and privacy concerns to genetic testing
            • Market Segmentation Analysis
              • Product: Penetration of software and services for efficient data management and analysis
              • Test Type: Emphasis on diagnostic testing to perform particular disease dignosis
              • Technology: Increasing shift toward DNA sequencing for precise gene identification and disease diagnosis
              • Application: Rising adoption of genetic testing to detect early signs of cancer
              • Distribution Channel: Deployment of genetic testing products on online platforms
              • End-User: Extensive use of genetic testing solutions in hospitals & clinics for disease diagnosis and treatment planning
              • Market Disruption Analysis
              • Porter’s Five Forces Analysis
              • Value Chain & Critical Path Analysis
              • Pricing Analysis
              • Technology Analysis
              • Patent Analysis
              • Trade Analysis
              • Regulatory Framework Analysis
              FPNV Positioning Matrix

              The FPNV positioning matrix is essential in evaluating the market positioning of the vendors in the Genetic Testing Market. This matrix offers a comprehensive assessment of vendors, examining critical metrics related to business strategy and product satisfaction. This in-depth assessment empowers users to make well-informed decisions aligned with their requirements. Based on the evaluation, the vendors are then categorized into four distinct quadrants representing varying levels of success, namely Forefront (F), Pathfinder (P), Niche (N), or Vital (V).

              Market Share Analysis

              The market share analysis is a comprehensive tool that provides an insightful and in-depth assessment of the current state of vendors in the Genetic Testing Market. By meticulously comparing and analyzing vendor contributions, companies are offered a greater understanding of their performance and the challenges they face when competing for market share. These contributions include overall revenue, customer base, and other vital metrics. Additionally, this analysis provides valuable insights into the competitive nature of the sector, including factors such as accumulation, fragmentation dominance, and amalgamation traits observed over the base year period studied. With these illustrative details, vendors can make more informed decisions and devise effective strategies to gain a competitive edge in the market.

              Recent Developments
              • DNA company Asa Ren raises USD 8M and more briefs

                Asa Ren, a prominent DNA data company in Indonesia, has successfully raised USD 8.15 million in a funding round led by Kejora Capital and esteemed investors Top Harvest Capital and Marcy Venture Partners from Silicon Valley. With this infusion of capital, Asa Ren aims to expand its digital capabilities, develop clinical bioinformatics, create an electronic health passport, and establish a clinico-genomic database focusing on non-communicable diseases. The company is also committed to expanding its distribution network to encompass more than 60 hospitals and clinics by the end of 2023. These developments highlight Asa Ren's commitment to advancing genetic testing, fostering collaborations with renowned investors, and furthering its mission to revolutionize healthcare in Indonesia and beyond.

                Devyser launches two new genetic testing solutions for hereditary cancer

                Devyser introduced two new products: Devyser LynchFAP and Devyser BRCA PALB2. These products are designed to facilitate targeted analysis of genes associated with an increased cancer risk. Devyser LynchFAP is the first commercial library prep kit specifically targeting PMS2 and nine other genes commonly linked to hereditary colorectal cancer syndromes. By incorporating a next-generation sequencing workflow, this test and its dedicated software empowers users to gain a deeper understanding of complex genetics through an intuitive solution. This addition further demonstrates their commitment to providing efficient and accurate genetic testing solutions for the medical community.

                Blueprint Genetics introduces the new Screening Tests family; giving actionable insights for family planning, and future health

                Blueprint Genetics has developed a comprehensive selection of genetic testing solutions to cater to the requirements of medical evaluations concerning family planning. These state-of-the-art tests empower individuals by providing valuable insights and enabling informed decisions regarding their reproductive health and overall well-being.
              Strategy Analysis & Recommendation

              The strategic analysis is essential for organizations seeking a solid foothold in the global marketplace. Companies are better positioned to make informed decisions that align with their long-term aspirations by thoroughly evaluating their current standing in the Genetic Testing Market. This critical assessment involves a thorough analysis of the organization’s resources, capabilities, and overall performance to identify its core strengths and areas for improvement.

              Key Company Profiles

              The report delves into recent significant developments in the Genetic Testing Market, highlighting leading vendors and their innovative profiles. These include Abbott Laboratories, Agilent Technologies, Inc., Becton, Dickinson and Company, Bio-Rad Laboratories, Inc., Blueprint Genetics Oy, Centogene N.V., Color Health, Inc., CooperSurgical Inc., Editas Medicine, Inc., ELITechGroup SAS, Eugene Labs Pty Ltd., Eurofins Scientific SE, F. Hoffmann-La Roche AG, Fulgent Genetics, Inc., Gene by Gene, Ltd., GeneDx, LLC, Illumina, Inc., Invitae Corporation, Laboratory Corporation of America Holdings, Living DNA Ltd., Macrogen, Inc., MyHeritage Ltd., Myriad Genetics, Inc., Natera, Inc., Newtopia Inc., PathogenDx Corporation, PerkinElmer Inc., Qiagen N.V., Sanofi S.A., and Thermo Fisher Scientific Inc..

              Market Segmentation & Coverage

              This research report categorizes the Genetic Testing Market to forecast the revenues and analyze trends in each of the following sub-markets:
              • Product
                • Consumables & Equipment
                • Software & Services
                • Test Type
                  • Carrier Testing
                  • Diagnostic Testing
                  • New Born Screening
                  • Pharmacogenomics
                  • Preimplantation Testing
                  • Prenatal Testing
                  • Presymptomatic & Predictive Testing
                  • Technology
                    • Cytogenetics
                    • DNA Sequencing
                    • Gene Expression Profiling
                    • Microarrays
                    • PCR
                    • Application
                      • Autoimmune Disorders
                      • Cancer
                      • Chronic Diseases
                      • Genetic Disorders
                      • Neurodegenerative Diseases
                      • Distribution Channel
                        • Offline
                        • Online
                        • End-User
                          • Diagnostic Laboratories
                          • Home Setting
                          • Hospitals & Clinics
                          • Region
                            • Americas
                              • Argentina
                              • Brazil
                              • Canada
                              • Mexico
                              • United States
                                • California
                                • Florida
                                • Illinois
                                • New York
                                • Ohio
                                • Pennsylvania
                                • Texas
                                • Asia-Pacific
                                  • Australia
                                  • China
                                  • India
                                  • Indonesia
                                  • Japan
                                  • Malaysia
                                  • Philippines
                                  • Singapore
                                  • South Korea
                                  • Taiwan
                                  • Thailand
                                  • Vietnam
                                  • Europe, Middle East & Africa
                                    • Denmark
                                    • Egypt
                                    • Finland
                                    • France
                                    • Germany
                                    • Israel
                                    • Italy
                                    • Netherlands
                                    • Nigeria
                                    • Norway
                                    • Poland
                                    • Qatar
                                    • Russia
                                    • Saudi Arabia
                                    • South Africa
                                    • Spain
                                    • Sweden
                                    • Switzerland
                                    • Turkey
                                    • United Arab Emirates
                                    • United Kingdom


                                    Please Note: PDF & Excel + Online Access - 1 Year


1. Preface
1.1. Objectives of the Study
1.2. Market Segmentation & Coverage
1.3. Years Considered for the Study
1.4. Currency & Pricing
1.5. Language
1.6. Stakeholders
2. Research Methodology
2.1. Define: Research Objective
2.2. Determine: Research Design
2.3. Prepare: Research Instrument
2.4. Collect: Data Source
2.5. Analyze: Data Interpretation
2.6. Formulate: Data Verification
2.7. Publish: Research Report
2.8. Repeat: Report Update
3. Executive Summary
4. Market Overview
5. Market Insights
5.1. Market Dynamics
5.1.1. Drivers
5.1.1.1. Prevalence of genetic and oncology disorders and need for precision medicine
5.1.1.2. Government initiatives for genetic testing and rise of self-test kits
5.1.2. Restraints
5.1.2.1. Concerns associated with false positives & negatives of genetic tests
5.1.3. Opportunities
5.1.3.1. Ongoing research and new developments in genetic testing technologies
5.1.3.2. Emergence of genetic testing with telehealth and digital health platforms
5.1.4. Challenges
5.1.4.1. Logistical barriers and privacy concerns to genetic testing
5.2. Market Segmentation Analysis
5.2.1. Product: Penetration of software and services for efficient data management and analysis
5.2.2. Test Type: Emphasis on diagnostic testing to perform particular disease dignosis
5.2.3. Technology: Increasing shift toward DNA sequencing for precise gene identification and disease diagnosis
5.2.4. Application: Rising adoption of genetic testing to detect early signs of cancer
5.2.5. Distribution Channel: Deployment of genetic testing products on online platforms
5.2.6. End-User: Extensive use of genetic testing solutions in hospitals & clinics for disease diagnosis and treatment planning
5.3. Market Trend Analysis
5.3.1. Technological advances and presence of established pharmaceutical companies enhance the genetic testing market growth in the Americas
5.3.2. Increasing chronic disorders and expanding healthcare infrastructure supports genetic testing in the APAC region.
5.3.3. Government initiatives and increasing demand for personalized medicine expand genetic testing market growth in the EMEA region.
5.4. Cumulative Impact of Russia-Ukraine Conflict
5.5. Cumulative Impact of High Inflation
5.6. Porter’s Five Forces Analysis
5.6.1. Threat of New Entrants
5.6.2. Threat of Substitutes
5.6.3. Bargaining Power of Customers
5.6.4. Bargaining Power of Suppliers
5.6.5. Industry Rivalry
5.7. Value Chain & Critical Path Analysis
5.8. Regulatory Framework Analysis
6. Genetic Testing Market, by Product
6.1. Introduction
6.2. Consumables & Equipment
6.3. Software & Services
7. Genetic Testing Market, by Test Type
7.1. Introduction
7.2. Carrier Testing
7.3. Diagnostic Testing
7.4. New Born Screening
7.5. Pharmacogenomics
7.6. Preimplantation Testing
7.7. Prenatal Testing
7.8. Presymptomatic & Predictive Testing
8. Genetic Testing Market, by Technology
8.1. Introduction
8.2. Cytogenetics
8.3. DNA Sequencing
8.4. Gene Expression Profiling
8.5. Microarrays
8.6. PCR
9. Genetic Testing Market, by Application
9.1. Introduction
9.2. Autoimmune Disorders
9.3. Cancer
9.4. Chronic Diseases
9.5. Genetic Disorders
9.6. Neurodegenerative Diseases
10. Genetic Testing Market, by Distribution Channel
10.1. Introduction
10.2. Offline
10.3. Online
11. Genetic Testing Market, by End-User
11.1. Introduction
11.2. Diagnostic Laboratories
11.3. Home Setting
11.4. Hospitals & Clinics
12. Americas Genetic Testing Market
12.1. Introduction
12.2. Argentina
12.3. Brazil
12.4. Canada
12.5. Mexico
12.6. United States
13. Asia-Pacific Genetic Testing Market
13.1. Introduction
13.2. Australia
13.3. China
13.4. India
13.5. Indonesia
13.6. Japan
13.7. Malaysia
13.8. Philippines
13.9. Singapore
13.10. South Korea
13.11. Taiwan
13.12. Thailand
13.13. Vietnam
14. Europe, Middle East & Africa Genetic Testing Market
14.1. Introduction
14.2. Denmark
14.3. Egypt
14.4. Finland
14.5. France
14.6. Germany
14.7. Israel
14.8. Italy
14.9. Netherlands
14.10. Nigeria
14.11. Norway
14.12. Poland
14.13. Qatar
14.14. Russia
14.15. Saudi Arabia
14.16. South Africa
14.17. Spain
14.18. Sweden
14.19. Switzerland
14.20. Turkey
14.21. United Arab Emirates
14.22. United Kingdom
15. Competitive Landscape
15.1. Market Share Analysis, 2023
15.2. FPNV Positioning Matrix, 2023
15.3. Competitive Scenario Analysis
15.3.1. DNA company Asa Ren raises USD 8M and more briefs
15.3.2. Devyser launches two new genetic testing solutions for hereditary cancer
15.3.3. Blueprint Genetics introduces the new Screening Tests family; giving actionable insights for family planning, and future health
15.3.4. Kindbody Brings Genetic Testing In-House with the Launch of Kindlabs
15.3.5. Genetic Testing Firm Delve Gets USD 35 Million in VC Funding
15.3.6. FBI approves QIAGEN’s NGS-based ForenSeq MainstAY workflow for the U.S. National DNA Index System (NDIS)
15.3.7. Sema4 to acquire genetic testing firm GeneDx for USD 623 Million
15.3.8. Scribe and Sanofi expand genetic therapy development deal
15.3.9. healthŌme Acquires Kailos Genetics
15.3.10. MapMyGenome launches India’s First DNA Test For Personalized Skin And Hair Care
15.3.11. CENTOGENE Extends Strategic Partnership With Takeda to Continue Providing Access to Genetic Testing for Patients With Lysosomal Storage Disorders
15.3.12. PathogenDx Expands Reach of Its Patented Multiplexed Molecular Testing Technology, Bringing It to the Clinical, Food and Agriculture Sectors
15.3.13. Agilent Announces Acquisition of Avida Biomed, Developer of High-Performance NGS Target Enrichment Workflows for Cancer Research
15.3.14. Invitae Announces Partnership with Epic to Streamline Genetic Testing
15.3.15. Grand Launching Of DNATEST.ID, A Comprehensive Dna Test In Indonesia
15.3.16. MyHeritage Releases cM Explainer to Predict Familial Relationships Between DNA Matches with Greater Accuracy
16. Competitive Portfolio
16.1. Key Company Profiles
16.2. Key Product Portfolio

Download our eBook: How to Succeed Using Market Research

Learn how to effectively navigate the market research process to help guide your organization on the journey to success.

Download eBook
Cookie Settings