Global Molecular Diagnostics Genetic Testing Market Research Report Segmented By Technology (Massively Parallel Sequencing, Polymer Chain Reaction, Array, Fluorescent In-situ Hybridization, Isothermal Nucleic Amplification Techniques, Others), By Type (Prenatal & Newborn Testing, Health & Wellness Predisposition, Carrier Testing, Pharmacogenomic Testing, Others), By End User (Diagnostic Laboratories, Hospitals & Clinics, Others), and Region- Size, Share, Growth Analysis | Forecast (2024 2030)

Market Size and Overview:

The Global Molecular Diagnostics Genetic Testing Market was valued at USD 1.33 billion and is projected to reach a market size of USD 2.69 billion by the end of 2030. Over the forecast period of 2024-2030, the market is projected to grow at a CAGR of 10.6%.

The importance of molecular diagnostics holds a crucial role in assessing the prognosis of diseases, monitoring the effectiveness of therapy, and detecting even minimal residual disease. Over the past decade, this field has witnessed substantial growth, propelled by advancements in chemistry and instrumentation, including automation, integration, high throughput capabilities, and flexible instrument utilization.

The global market for molecular diagnostics genetic testing is primarily driven by factors such as the increasing prevalence of chronic and genetic diseases, the emergence of advanced testing kits due to technological advancements, and heightened consumer awareness about sophisticated molecular diagnostic tests. The expanding elderly population is expected to contribute significantly to market growth, and governments worldwide are actively promoting awareness about the benefits of genetic testing. The presence of prominent market players, coupled with substantial investments in research and development, has led to innovations in product design, improved distribution methods, and enhanced product quality. The growing popularity of affordable and accessible direct-to-consumer genetic testing kits is anticipated to further stimulate the adoption of molecular diagnostics and genetic testing on a global scale, boosting the overall growth of the genetic testing market.

Key Market Insights:

The importance of pharmacogenomics testing is increasingly crucial in assisting healthcare professionals in selecting appropriate medications and determining optimal dosage for individual patients. Numerous research studies, endorsed by the Association for Molecular Pathology (AMP) Pharmacogenomics (PGx), advocate for the integration of clinical pharmacogenomics assays to establish a standardized approach among laboratories in this field.

Globally, the frequency of infectious diseases, such as HIV, is on the rise. For instance, the UNAIDS update in August 2022 reported around 38.4 million individuals worldwide living with HIV in 2021, with 36.7 million cases in adults and 1.7 million in children. The growing prevalence of infectious diseases, including HIV, is expected to drive the expansion of the market through increased adoption of molecular diagnostics genetic testing for HIV.

The India TB report for 2022 indicates a notable increase in newly reported and relapse TB patients, with 1,933,381 cases documented in 2021 compared to 1,628,161 cases in 2020. This surge in prevalence and an expanding patient cohort are projected to drive higher demand for molecular diagnostics genetic testing, contributing to market growth.

According to the American Cancer Society, nearly 1.8 million new cancer cases were diagnosed in 2020, resulting in approximately 606,520 cancer-related fatalities in the United States. Globally, cancer stands as the second leading cause of death, with many cancer types having a hereditary component passed down due to genetic factors.

Global Molecular Diagnostic Genetic Testing Market Drivers:

The growth of the Global Molecular Diagnostic Genetic Testing Market is being driven by the increasing incidence of autoimmune diseases worldwide.

The rise in autoimmune diseases necessitates the demand for molecular diagnostics and genetic testing services, with applications in various domains such as oncology, obstetrics, and ancestry analysis. These services serve as valuable tools for clinicians and individuals to identify genetic factors responsible for the onset of medical conditions, aligning with broader factors like population growth and the prevalence of communicable and non-communicable diseases. Collectively, these factors contribute to the expansion of the genetic testing services market.

The market is witnessing growth due to the increasing demand for Molecular Diagnostic Genetic Testing kits in the point-of-care setting.

Molecular diagnostic platforms have gained significant traction in Point-of-Care (PoC) environments, with companies actively creating platforms and assays tailored for PoC or near-patient testing. Ongoing innovation in new assays designed for swift PoC results, such as Abbott's ID NOW COVID-19 test introduced in 2020, is positively impacting market expansion in this sector.

Technological advancements are contributing to the growth of the Molecular Diagnostic Genetic Testing Market.

The genetic testing field has experienced notable technological progress, including next-generation sequencing and chromosomal microarray analysis. These advancements have revolutionized the identification of structural and numerical abnormalities in chromosomes, enabling the detection of rare genomic and genetic disorders. Technologies like cell-free fetal DNA (cffDNA) analysis and carrier screening techniques have been developed, enhancing the capabilities and scope of genetic testing in non-invasive prenatal diagnostics.

Global Molecular Diagnostic Genetic Testing Market Restraints and Challenges:

In less economically developed nations, the expansion of the genetic testing market may encounter obstacles due to financial considerations. The cost of genetic testing varies widely, ranging from below USD 100 to exceeding USD 2,000, contingent upon the complexity and type of test conducted. Expenses escalate when multiple tests are required or when samples from various family members are necessary to generate a comprehensive test outcome. Additionally, the turnaround time for result delivery may extend to several weeks. In certain scenarios, health insurance plans may cover the cost of genetic testing, especially when recommended by medical professionals. However, there exists significant variability among health insurance providers in their policies and the extent of coverage.

Global Molecular Diagnostic Genetic Testing Market Opportunities:

Healthcare systems in developing nations such as Brazil, India, and China have experienced substantial increases in investments directed towards healthcare and infrastructure enhancements. Furthermore, emerging economies face the imperative of achieving cost efficiency and scalability to meet the growing demands of their expanding patient population. The demand for genetic testing has surged in scientific circles globally, fueled by an increasing awareness of genetic disorders in developing economies. The accessibility and practicality of genetic testing methodologies have progressively strengthened research and development efforts in regions like Asia and other developing parts of the world. Simultaneously, diverse genome-oriented initiatives, such as China Genome, in these regions have served as catalysts for market growth. The Asia-Pacific region, with its substantial population, decreasing costs of genetic testing techniques, and heightened awareness regarding genetic disorders, is positioned to offer a range of growth opportunities for market participants throughout the forecast period.

Global Molecular Diagnostics Genetic Testing Market Segmentation:

Global Molecular Diagnostic Genetic Testing Market Segmentation: By Technology

• Massively Parallel Sequencing
• Polymerase Chain Reaction
• Array
• Fluorescent In-situ Hybridization
• Isothermal Nucleic Amplification Techniques
• Others

The Massively Parallel Sequencing segment asserted its dominance by holding the highest market share in 2022 and exhibited a noteworthy CAGR of 23.03% from 2023 to 2030. This growth is primarily attributed to the upsurge in genome mapping initiatives, increased healthcare expenditure, continuous technological advancements, and an expanded scope of applications for next-generation sequencing.

DNA sequencing technologies are increasingly employed for the identification and characterization of various cancer types and genetic disorders. The utilization of tumor DNA sequencing in genetic testing or profiling aids in identifying distinct DNA alterations, facilitating the formulation of targeted treatment strategies tailored to the individual's specific genetic makeup. The rising prevalence of cancer and genetic disorders is a key driver behind the growing demand for molecular diagnostics genetic testing in both clinical and research settings.

Array Technology emerges as the fastest-growing segment, expected to hold substantial revenue market share. The prevalence of cancer and other diseases has led to the adoption of DNA-based array technology in molecular diagnosis genetic testing.

Global Molecular Diagnostic Genetic Testing Market Segmentation: By Type

• Prenatal & Newborn Testing
• Health & Wellness Predisposition
• Carrier Testing
• Pharmacogenomic Testing
• Others

The segment focused on prenatal and newborn testing secured the leading position in revenue in 2022, with a projection to maintain its dominance throughout the forecast period. This is attributed to the increasing awareness of healthcare and the rising incidence of mortality rates due to genetic diseases globally. Conversely, the pharmacogenomic testing segment is anticipated to experience the highest compound annual growth rate (CAGR) during the forecast period, driven by the increasing global adoption of personalized medicine.

Global Molecular Diagnostic Genetic Testing Market Segmentation: By End–User

• Diagnostic Laboratories
• Hospitals & Clinics
• Others

In 2022, the hospitals and clinics segment emerged as the leader in market revenue, claiming the largest share at 46.06%. This is primarily attributed to mandatory newborn screenings for genetic disorders and the growing prevalence of cancer worldwide. Additionally, nearly 98% of childbirths in the U.S. occur within hospital settings, contributing to heightened testing demand. The expansion of hospital and clinic capacities, coupled with modern trends like telehealth and on-site hospital services, is projected to foster market growth.

Diagnostic Laboratories are poised to be the fastest-growing market, driven by increasing partnerships and collaborations between diagnostic laboratories and genetic testing companies, enhancing their collective ability to offer comprehensive testing services.

Global Molecular Diagnostic Genetic Testing Market Segmentation: Regional Analysis

• North America
• Europe
• Asia-Pacific
• South America
• Middle East and Africa

In 2022, North America established dominance in the global market with a market share exceeding 35%. This achievement is credited to heightened demand for diagnostics due to a surge in chronic illnesses and the availability of cutting-edge diagnostic methodologies. The region also experiences an upswing in infectious diseases, including COVID-19, tuberculosis, HIV, and influenza, which is projected to amplify the need for detection and treatment services. The well-established healthcare infrastructure and government funding for research further contribute to market expansion in North America.

Meanwhile, the Asia Pacific region stands out as the fastest-growing market, driven by the sizable target population in countries like China, India, South Korea, and Japan. The adoption of innovative laboratory techniques, notably DNA sequencing, for swift investigation and diagnosis of both chronic and infectious disorders, serves as a pivotal factor driving market growth in this region.

Impact of COVID-19 on the Global Molecular Diagnostics Genetic Testing Market:

The COVID-19 pandemic has significantly influenced the global molecular diagnostic genetic testing market. This unprecedented event underscored the necessity of swift and precise disease detection, propelling molecular diagnostic genetic testing to the forefront as a vital instrument in managing and curtailing the virus's spread. This situation expedited the adoption of molecular testing technologies, including PCR and massively parallel sequencing, for the detection of the SARS-CoV-2 virus, thereby fostering the market's growth. The pandemic further emphasized the need for a strong healthcare infrastructure and efficient supply chains for the consistent availability of testing kits and equipment. The overall influence of the COVID-19 pandemic on this market has been beneficial, reinforcing the essential role of molecular testing in disease identification and management. The rapid embrace of advanced testing techniques and the integration of genetic data into telehealth practices are anticipated to have a lasting influence on the market's future direction.

Global Molecular Diagnostics Genetic Testing Market Recent Developments:

The global molecular diagnostics genetic testing sector is marked by intense competition with numerous players actively involved in genetic testing. These companies boast a strong market presence, a wide range of products, extensive global reach, and established distribution networks. A significant number of these firms are heavily invested in research and development to stay ahead in the market by offering innovative and advanced testing solutions.

Remarkable advancements are being made in the molecular diagnostic genetic testing industry, particularly in research and innovation. For instance, the CRISPR-Cas9 technology, a groundbreaking development in gene editing, enables precise DNA modification and holds immense promise for treating genetic disorders by altering or correcting faulty genes. Another key area is pharmacogenomics, which examines how a person's genetic makeup influences their reaction to medications. Pharmacogenomic testing is instrumental in assisting healthcare providers to prescribe medications that are both effective and have minimal side effects for specific patients. The Association for Molecular Pathology (AMP) Pharmacogenomics (PGx) has been at the forefront of promoting the use of clinical pharmacogenomics assays to standardize practices across laboratories. In August 2022, AMP issued guidelines on designing and validating clinical genotyping assays for NUDT15 and TPMT. These guidelines are crucial in establishing the necessary genotyping practices for laboratories, ensuring the identification of patients at risk of thiopurine toxicity through the minimum set of alleles for TPMT and NUDT15 genotyping.

Key Players:

• Abbot Laboratories
• Danaher Corporation
• Bio-Rad Laboratories Inc.
• Myriad Genetics
• AmGen Inc
• Eurofins Genoma
• Color Genomics
• AncestryDNA
• F. Hoffman La-Roche Ltd.
• Seimens AG

In March 2023, Invitae, a company specializing in medical genetics testing, revealed a collaboration with Epic, a prominent healthcare software company, aimed at utilizing Epic's diagnostic suite called Aura. Through this partnership, Invitae intends to seamlessly integrate its genetic test outcomes into Aura's regular workflows for healthcare providers within the Epic network.

In September 2022, Eurofins Genoma, which is affiliated with the Eurofins group of firms and recognized for its expertise in genetic, cytogenetic, and molecular analyses, particularly as one of Europe's cutting-edge molecular diagnostics laboratories, introduced niPGT-A. This represents a non-invasive preimplantation genetic aneuploidy screening test, marking a notable addition to their portfolio of services.