Global Rare Disease Genetic Testing Market Size study, by Disease Type (Neurological Disease, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders (CVDs), Dermatology Disease, Others), by Technology (Next-Generation Sequencing (NGS), Whole Exome Sequencing, Whole Genome Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping), by Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), by End-Use (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories) and Regional Forecasts 2022-2032
The global rare disease genetic testing market size was valued at USD 887.79 million in 2023 and is expected to expand at a compound annual growth rate (CAGR) of 14.30% from 2024 to 2032. Rare disease genetic testing involves analysing an individual's DNA to identify genetic mutations responsible for rare conditions, which affect a small percentage of the population. These tests help diagnose diseases that are often challenging to identify due to their rarity and diverse presentations. Applications of rare disease genetic testing include confirming clinical diagnoses, informing treatment decisions, guiding family planning, and enabling early intervention. It also facilitates research into the genetic basis of rare diseases, potentially leading to the development of new therapies. Additionally, genetic testing can aid in identifying carriers of genetic mutations, helping at-risk families make informed health decisions.
The rising incidence of chronic diseases such as cancer, cardiovascular diseases, and diabetes significantly drives the demand for rare disease genetic testing. With the aging global population, the prevalence of these diseases is increasing, necessitating more pathological examinations and diagnostic tests to guide treatment plans and improve patient outcomes. Advancements in genetic testing technologies, such as next-generation sequencing (NGS) and whole-exome sequencing (WES), enhance the accuracy, speed, and affordability of these tests. These technological innovations facilitate comprehensive analysis of genetic mutations, making it possible to diagnose previously challenging rare diseases accurately. Furthermore, the growing awareness and adoption of personalized medicine, which tailors treatment to individual genetic profiles, are propelling the market. Personalized medicine relies heavily on precise diagnostic information from genetic testing to identify specific genetic mutations responsible for rare diseases, enabling targeted and effective treatments. Additionally, emerging markets, particularly in Asia-Pacific and Latin America, present substantial growth opportunities due to improving healthcare infrastructure, rising disposable incomes, and increasing awareness of genetic disorders. However, the market faces significant challenges, such as the high costs of genetic testing, which can be prohibitive for many patients, particularly in low-income regions. Limited access to advanced testing facilities and the absence of reimbursement policies further restricts the widespread adoption of genetic testing for rare diseases. Addressing these barriers is crucial to ensure that genetic testing is accessible and affordable for all individuals affected by rare diseases.
In 2023, North America dominated the global rare disease genetic testing market, holding a substantial share of over 47%. This dominance can be attributed to the high incidence of rare diseases, extensive disease registries, a significant number of R&D facilities for ultra-rare diseases, and substantial investments in disease diagnosis. Conversely, the Asia Pacific region is poised to experience the fastest growth, with a projected CAGR of 18% during the forecast period. This growth is driven by increasing healthcare infrastructure development, rising disposable incomes, and growing awareness of genetic disorders in the region.
Major market players included in this report are:Quest Diagnostics Inc.
Centogene N.V.
Invitae Corp.
3billion, Inc.
Arup Laboratories
Eurofins Scientific
Strand Life Sciences
Ambry Genetics
Perkin Elmer, Inc.
Realm IDX, Inc.
Macrogen, Inc.
Baylor Genetics
Color Genomics, Inc.
Health Network Laboratories
PreventionGenetics
The detailed segments and sub-segment of the market are explained below:By Disease Type:
• Neurological Disease
• Immunological Disorders
• Hematology Diseases
• Endocrine & Metabolism Diseases
• Cancer
• Musculoskeletal Disorders
• Cardiovascular Disorders (CVDs)
• Dermatology Disease
• Others
By Technology:
• Next-Generation Sequencing (NGS)
• Whole Exome Sequencing
• Whole Genome Sequencing
• Array Technology
• PCR-based Testing
• FISH
• Sanger Sequencing
• Karyotyping
By Specialty:
• Molecular Genetic Tests
• Chromosomal Genetic Tests
• Biochemical Genetic Tests
By End-Use:
• Research Laboratories & CROs
• Hospitals & Clinics
• Diagnostic Laboratories
By Region:
North America
• U.S.
• Canada
Europe
• UK
• Germany
• France
• Spain
• Italy
• ROE
Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• RoAPAC
Latin America
• Brazil
• Mexico
• RoLA
Middle East & Africa
• Saudi Arabia
• South Africa
• RoMEA
Years considered for the study are as follows:• Historical year – 2022
• Base year – 2023
• Forecast period – 2024 to 2032
Key Takeaways:• Market Estimates & Forecast for 10 years from 2022 to 2032.
• Annualized revenues and regional level analysis for each market segment.
• Detailed analysis of geographical landscape with Country level analysis of major regions.
• Competitive landscape with information on major players in the market.
• Analysis of key business strategies and recommendations on future market approach.
• Analysis of competitive structure of the market.
• Demand side and supply side analysis of the market.
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